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List of Studies

The table below shows the current NIMH studies, both released and in-process. For in-process studies that are not yet released for distribution, the table shows the expected number of subjects, marked with an orange superscript.

Study Title Distributions PIs Grants Sites Subjects GWAS Notes
0 NIMH Bipolar Genetics Initiative Bipolar Disorder DEPAULO, NURNBERGER, REICH

5U01MH046282, 5U01MH046280, 5U01MH046274

10, 12 1353

PIs: Nurnberger, Reich, DePaulo, Gershon Sites: 10-13 175 in dbGaP BP GAIN; 112 in NIMH BP-DS11 phase1; 174 in NIMH BP-DS11 phase2

0 NIMH Schizophrenia Genetics Initiative Schizophrenia CLONINGER, KAUFMANN, TSUANG

5U01MH046318, 5U01MH046276, 5U01MH046289

30, 31, 32 877

0 NIMH Alzheimers Genetics Initiative Alzheimer's Disease ALBERT, BASSETT, GO

5U01MH046281, 5U01MH046290, 5U01MH046373

50, 51, 52 1411

1 A Collaborative Genomic Study of Bipolar Disorder Bipolar Disorder BERRETTINI, BYERLEY, CORYELL, DEPAULO, NURNBERGER

R01MH059545

20, 21, 22, 23, 24, 25, 26, 28, 29 1880

2953 subjects released across BP dist 2, 4, and 8. Last release dist 8.01 04-May-2015

2 Molecular Genetics of Bipolar Disorder Bipolar Disorder BARON

R01MH059602

15, 16 843

Site 15-US; Site 16-Israel 1072 subjects released in BP dist 3.0 - release date recorded (2006-01-01) is an estimate

3 Genetic Linkage Study of Schizophrenia Schizophrenia TSUANG

R01MH059624

34, 35 2328

Site 34-China; Site 35-Taiwan. 2622 subjects released in SZ dist 2.0.

4 Collaborative Linkage Study of Autism Autism FOLSTEIN, PIVEN

R01MH055135

60, 61, 89 652

746 individuals released in autism dist 3.0. release date above (2007-01-01) is an estimate

6 Molecular Genetics of Schizophrenia Schizophrenia BYERLEY, CLONINGER, GEJMAN

R01MH059571

40, 41, 42, 43, 44, 45, 46, 47, 48, 49 1383

20 May 2020 - Dave Keller of RUCDR informed us of a request to eliminate data and biosamples for 06C60529. No data or biosamples had been released for this subject, so the elimination is occurring soley at RUCDR. 2041 inds released in SZ dist 3.0 on 03-Aug-2007

7 Genetics of Early-Onset Major Depression Depression DEPAULO, WEISSMAN, ZUBENKO

R01MH060912

80, 81, 82, 83, 84, 85 2238

8 Genetic Analysis of Bipolar Disorder Bipolar Disorder PATO

R01MH058693

38 223

342 inds released in BP dist 4.0 on 31-Jul-2007

9 A study of Schizophrenia Schizophrenia BERMAN, WEINBERGER

NA

39 830

2023-07-13 Study replied, said that their consent documents changed multiple times over the course of the study so they need to review ALL of their consents to make sure things can be shared. 2023-06-15 JTS: Old study consent form found that clearly indicates study was consented for wide sharing. Natasha sent a message with a copy and pointing out relevant text to investigators. 2023-05-10 JTS: Got consent form from NIMH. Uploaded to SRTP. These appear to indicate wide-sharing was part of the consent for this study even from the beginning. 2023-04-04 JTS: Sent study slides, checklist and link for genetic data. Study needs to review currently released data for accuracy, provide data for unreleased samples, assess dx_study and IND_ID discrepancies, confirm no revoked consents. 2023-03-27 AG: Met with study 3/27/23 for training. The study will submit a new title, and ack text. The study site is incorrect, site 39 is where Daniel Weinberger went - the study only collected data from the NIMH clinical center. They are working with Natasha to fix this on SRTP. They are not currently sharing data at other repositories, but will be in the future (they have imaging data). 2023-03-22 BGR: added AQC submission number from 2019; it was recorded in this notes section by Sherri but not recorded in the submission # field above. Contained only 235 subjects and only a _sub and _dx in the submission. Will incorporate into training slides on Monday. 2023-03-21 JTS: training scheduled for Monday 2023-03-27. 2023-03-17 JTS: Training availability poll sent to study. Natasha provided hx about this study: Some samples in study predate the current PIs, but current PI cares very much about these samples. Original data manager may have retired. Some of this data is probably only on paper. We need to work in batches starting with most recent data (most likely to be electronic) and work backwards. 2023-03-16 JTS: Daniel Weinberger replied saying he is no longer at NIH and has no role with this study any longer, said to work with Karen Berman on this. 2023-03-16 JTS: Sent follow up due to no response. Follow up weekly until 2023-04-13 then reach out to NIMH for alternative contact. 2023-03-13 JTS: sent study personnel outreach email for training and reminding of agreement with NIMH about data submission. Included preliminary N review and prior communication regarding subject/sample counts. 2022-08-10 BGR: Communicated to study via helpdesk ticket # 4485 updates required to complete their data submission and proceed with biosample shipment request. This will be their final exception extended as an intramural study and they must agree to the conditions we set out, and be up to date for data submissions before any further samples are distributed in the future. 2021-3-8 NLS: Many if not most of this study's participants have to travel to the NIH from afar, sample collection is at the mercy of COVID and of the rules at the NIH Clinical Center in planning for how many patients the study can expect. At most, the study guesstimates that it will receive no more than 50-75 blood samples by 3/1/2022. The study end sate is 2035. 2020-01-07, SW- Study 9's first submission (on 2019-11-22) to NRGR after the decision was made to send information in "batches" can be found here: 5dd81a56a6b54 (help desk ticket #3846). 2019-07-02, SW: Study requested samples from RUCDR. Study was informed that we are missing data on ~3,965 samples (a more accurate number would be the amount of subjects in the event that we have more than one sample on one individual, which might be ~4,769). NIMH asked that study/PI give a timeline for data submission before releasing samples. Study stated, "By the end of the summer 300 participants. Approximately 100/month thereafter." NIMH approved sample request given this information. 830 inds released in SZ dist 12.0 This is an IRP study protocol. Original PI was Egan, then Weinberger, the most recent PI on record for it is Dr. Karen Faith Berman. Contact: Phone: +1 301 496 7603; Fax: +1 301 480 7795; bermank@mail.nih.gov). As an IRP study they don?t have an end date. The protocol is ongoing. There were at least 3000 samples as of 2015. We expect 5-10 samples a year. We should be receiving data from those samples within 6 months of submission. Periodic releases would be expected. We expect to get the same individual level data that we received on prior samples. There is genomic data on these samples that should be available through dbGaP or other sources. There is EEG, MEG and MRI data for some of these subjects which may be at NDA or another database. We should ask for links to any data stored somewhere else publicly.

10 Collaborative Linkage Study in Autism Autism FOLSTEIN

R01MH055135

62 4

4 individuals released in Autism dist 3.0. Release date above (2007-01-01) is an estimate

12 Genetic Analysis of Psychosis Schizophrenia PATO

R01MH052618

33 233

374 inds released in SZ 4.0 on 01-Sep-2007

13 Genetics of Schizophrenia in Latino Populations Schizophrenia ALMASY, CANIVE, ESCAMILLA, GLAHN, NICOLINI, RAVENTOS

R01MH060881

17, 53, 54, 55, 56, 57, 58, 59 1241

09/26/2022, NLS: From page 102 of the grant: "All written consent forms (and verbal assent summaries) will describe the plan to deposit blood and blinded clinical data in an NIMH-sponsored repository for sharing with other scientists for use limited to studies of SC and related disorders and will describe the procedures employed to prevent violation of confidentiality."

14 Molecular Genetics of Infantile Autism Autism RISCH

R01MH052708

63 563

719 inds released in Autism 2.0. Release date above (2006-01-01) is an estimate

15 A Neurobehavioral Family Study of Schizophrenia Schizophrenia NIMGAONKAR

R01MH042191

70, 71 645

Released in SZ Dist. 5.0; Future Action: WU plans to process the data from this study. We will report on our progress in December.

16 Collaborative OCD Genetic Study Obsessive-Compulsive Disorder NESTADT

R01MH050214

164, 64, 65, 66, 67, 68, 69 1351

17 CLINICAL ANTIPSYCHOTIC TRIALS OF INTERVENTION EFFECTIVES (CATIE); Replication of Schizophrenia Associations in CATIE Alzheimer's Disease, Schizophrenia LIEBERMAN, SULLIVAN

N01MH090001, R01MH074027

75, 76 926

741 inds from Site 76 (SZ) released in Schizophrenia 4.0 on 01-Sep-2007; 185 inds from Site 75 (AD) released in AD Dist. 3.0 on 10-Mar-2010 Project start date listed for N01MH090001; Project end date listed for R01MH074027 22-Jul-2019 BGR: Added NDA collection numbers (different for AZ and SZ)

18 Sequenced Treatment Alternatives to Relieve Depression (STAR*D) Depression RUSH

N01MH090003

77 1942

site 77 - 1942 inds released in Depression 2.0

19 Systematic Treatment Enhancement Program for Bipolar Disorder (STEP-BD) Bipolar Disorder, Controls NIMGAONKAR

N01MH080001

14, 78, 86, 88 2365

Site 88=Controls, site 86=Relatives

20 Treatment of Adolescents with Depression (TADS) Depression MARCH

contract RFP-NIH-NIMH 98-DS-0008

79 171

171 inds released in Depression 5.0 ClinicalTrials.gov Identifier: NCT00006286 site 79 22-Jul-2019 BGR: Added NDA collection number and title

21 AGRE; A Genomewide Search for Autism Susceptibility Loci Autism GESCHWIND

R01MH064547

72, 74 3909

19-Sep-2022 BGR: data not in geschwind's possession, in AGRE's possession. Jennifer Lowe does not have access to this. Vicki Litz needs to prep this for submission.

22 Project among African-Americans to explore risks for schizophrenia (PAARTNERS) Schizophrenia GO, NIMGAONKAR

R01MH066181

101, 102, 103, 104, 105, 106, 107, 108, 109 1739

23 Genetic Susceptibility in Schizophrenia Controls, Schizophrenia NIMGAONKAR

R01MH056242

73 489

24 Genetics of Anorexia Nervosa Eating Disorders BERRETTINI, HALMI, KAYE

R01MH066122

110, 111, 112, 113, 114, 115, 116, 117, 118, 119, 120 1208

2020-06-03, SW: This was a multi-center collaborative study. The PI was Walter Kaye and all data was sent to his center at the time. He is now at UC San Diego (wkaye@ucsd.edu)

25 International Multi-Center ADHD Genetics Project (IMAGE) Attention-Deficit Hyperactivity Disorder FARAONE

R01MH062873

19, 90, 91, 92, 93, 94, 95, 96, 97, 98, 99 4959

27 The Genetics of Endophenotypes and Schizophrenia (COGS) Schizophrenia BRAFF

R01MH065571

122, 123, 124, 125, 126, 127, 128, 253, 254, 255, 256, 257 1347

2023-06-15 JTS: After multiple rounds of emails detailing the missing data and what we expect from him, Dr. Braff is working on finding staff to put together a submission. Follow up every few weeks and schedule training once the staff have been found. 2023-05-12 JTS: Braff replied asking what we are looking for. Sent message showing what we received in past and requesting to schedule training. 2023-05-11 JTS: Sent follow up outreach due to no response. 2023-04-26 JTS: Study has ~3000 samples in storage at Sampled unreleased due to no subject data. Sent outreach to PI about getting missing data and training. COGS1 (sites 122-128) released in SZ Dist. 14.0; COGS2 (sites 253-257) still need data

28 A study of ADHD (CHOP) Attention-Deficit Hyperactivity Disorder ELIA

5K23MH066275-05

130 1500

2023-04-20 JTS: our internal will review what is available on ZORK and try to come up with something suitable for release. We did follow up with Natasha about trying to confirm consent status, but until that is sorted out this is not a high priority. Sherri contacted Elia (who is in private practice now - Linda found her email via google) - but no response. Gillian contacted John because they had sent phenotypic data on 200 individuals, but the updated distribution file they had sent (but we did not publish) had 1241 entries with 1229 biosamples. What little data they were able to generate for this file came from what they found at PGC. Sherri was going to see if Elia could provide the fields we typically try to require from studies who don't follow the submission packet (Sherri has these from other studies we have done this with, but I can provide again if need be).

29 Molecular Genetics of Schizophrenia Controls, Schizophrenia BYERLEY, GEJMAN

R01MH059571

139, 140, 141, 142, 143, 144, 145, 146, 147, 148, 149, 150 8989

2023-07-19 JTS: Alan has been working on providing data for the subjects who we included in the GWAS from this study. Those are the only subjects whose data he has access to. Alan sent a _DX, _ID, and _SUB file for these via email. After reviewing we sent him updated versions of these files and some feedback via email. Updated dbGaP collection numbers. 2023-06-23 JTS: Sent outreach attempts to Alan. Alan said he is the go to guy for this study since Gejman retired, will take a look through the accounting I sent. Alan Sanders (alan.sanders.md@gmail.com) 2023-06-08 JTS: After multiple outreach attempts with no response, I reached out again and copied in Natasha for assistance. 2023-04-26 JTS: Sent outreach to both PIs about getting missing data and scheduling training. We recently tried to reach Gejman about his NRGR account but he never replied after multiple attempts. Study has ~1000 samples in storage at Sampled unreleased due to no subject data. Site 150=Controls

30 A study of Autism Autism RODIER

1P50HD055753-01, 5U19HD035466-08

158 50

52 inds released in Autism 5.0 start and end dates estimated based on samples received dates site 158 25-Feb-2019 BGR: Per Tara and Lora, "Study 30: Patricia M. Rodier Study 31 PI: Unknown Grant Numbers: 1P50HD055753-01 & 5U19HD035466-08 Please note that we could not determine which grant belongs to which study. ACTION? Enter both grant numbers for both studies, make a note in the ?notes? field."

31 A study of Autism Autism RODIER

1P50HD055753-01, 5U19HD035466-08

151 79

79 inds released in Autism 5.0 site 151 25-Feb-2019 BGR: Per Tara and Lora: "Study 30: Patricia M. Rodier Study 31 PI: Unknown Grant Numbers: 1P50HD055753-01 & 5U19HD035466-08 Please note that we could not determine which grant belongs to which study. ACTION? Enter both grant numbers for both studies, make a note in the ?notes? field."

32 A study of Autism Autism SZATMARI

152 483

598 inds Released in Autism Dist 5.0 on 01-Jun-2008 Start date and end date estimates based on first and last samples received

33 Longitudinal Study of Language and Theory of Mind in Autism Autism TAGER-FLUSBERG

P01DC003610, 3U19DC003610-08S1

153 210

34 Neurobiology and Genetics of Autism Autism DAWSON

U19HD035465

154 214

35 Molecular and Genetic Epidemiology of Autism Autism PERICAK-VANCE

R01MH080647

155 1221

36 A study of Autism Autism MCINNES

156 310

332 inds released in Autism Dist 5.0 on 01-Jun-2008. Project start date and end date estimates based on first and last samples received

37 Research Units of Pediatric Psychopharmacology (RUPP-PI) Autism MCDOUGLE

U10MH066766

157 133

39 New Jersey Language & Autism Genetics Study (NJLAGS) Autism BRZUSTOWICZ

RC1MH088288

161 391

Released in AU Dist. 13.0

40 Bipolar Genome Study (BiGS) Bipolar Disorder BERRETTINI, BYERLEY, CORYELL, MCINNIS, NURNBERGER

P50CA89392, K02DA021237

170, 171, 172, 173, 174, 175, 176, 177, 178, 179, 180, 181 3934

3934 inds released in Bipolar 5.0 on 22-Jun-2009 P50CA89392 from the National Cancer Institute; K02DA021237 from the National Institute of Drug Abuse ClinicalTrials.gov Identifier: NCT00001174 National Institute of Mental Health (NIMH) Intramural Research Program Project start date and end date estimate based on first sample received and last sample received

41 The Development of the Siblings of Children with Autism: A Longitudinal Study; Heterogeneity in Autism Biomarkers, Trajectories and Treatments Autism BOOKHEIMER, GESCHWIND

P50HD055784

700, 701, 702, 703, 704, 706, 707 438

2023-08-10 BGR: We determined in an email thread to Dr. Bookheimer and all other PIs listed in this study record that Dr. Bookheimer should be responsible for locating the maximum amount of data possible for this study. Initial outreach was done in May 2023 and we've followed up multiple times since then. Dr. Bookheimer last responded on 7/20/2023 that she has a team and they will reach back out when they have preliminary data pulled together. BGR followed up again today 8/10/23. 2023-03-15, NLS: This "study" is confusing because it should have been more than one study. Initially, I think that this "study" was for grant # P50HD055784; Title: The Development of the Siblings of Children with Autism: A Longitudinal Study; Short Title: STAART; PIs: Susan Y Bookheimer, Joseph Piven, and Helen B Tager-Flusberg. However, another project was later added to the study. According to Susan Bookheimer this is the information for the new project added to the study: title: Heterogeneity in Autism Biomarkers, Trajectories and Treatments; PIs: Susan Bookheimer and Dan Geschwind; Organization: UCLA. Dr. Geschwind is head of the biosamples core. Jenny Lowe from the Geschwind lab is also involved. Dr. Bookheimer did not include a grant #. 2023-01-25 BGR: We still do not know who is supposed to be the contact person for data submission for this study. Followed up with NIMH today. SW was trying to get in touch with Jenni Lowe per instruction from Tara Dutka, at one point she did say she assembled most information for the ~200 samples and was confirming consent status before asking programmers to submit, but she emailed SW on 10/3/2022: ...I am not the data manager for Study 41. Please contact PI Susan Bookheimer. I expected to have access to the requested information for ~10% of the samples on your list and have tried to help out as my other responsibilities allow, but I previously conveyed to Dr. Bookheimer that I don?t have the data to assemble a complete deposit. ------------------------------------------------------------------------- 2022-10-03, SW: Per Tara Dutka on 05/17/2022, Dan Geschwind?s manager Jennifer Lowe should be your best contact for the data for this project. Tara asked that team reach out to Study 41 (on 4/5/2022) with this message: As the end date is approaching and the study needs to prepare to submit data to us and provide links to data in NDA, please reach out to Study 41 now. SW emailed to train study from April to August for training; emailed again on 10/8. This study is a center grant P50HD055784, it is still ongoing in year 12, the last renewal was last year so their current incarnation lasts until 2022 and projected enrollment for this term is 531 subjects. 01-Mar-2019 BGR: deleting site 705 per instruction from Geetha 22-Jul-2019 BGR: Added NDA collection numbers and titles based on matching grant numbers 2021/3/12 NLS: The study anticipates recruiting 26 more participants with blood for the repository from Project 4 in the UCLA ACE Center through July 31, 2022. 2021/3/12 NLS: This is an old study that spans several grants. If you reach out to the study personnel and refer to what we have recorded as the study name they will be confused. If we need information about this study, I recommend contacting Susan Bookheimer who is listed as a PI below. If we need info about the samples, I recommend including

42 A Genome Wide SNP Association Study: Schizophrenia Schizophrenia FALLIN, PULVER

R01MH068406

185 197

9-15-2022, NLS: From page 62-63 of the grant: "The consent form documents informed the subjects of the purpose of the study, the procedures (in-person interview, blood drawing, interview with an informant, obtaining psychiatric treatment records, family history interview), the potential risks and the protections against those risks and the potential benefits of the research. Subjects were told that the biological samples (i.e., DNA, lymphoblastoid cell lines) would be used under Dr. Pulver's direction for the specific purpose of identifying and understanding the role of susceptibility genes in schizophrenia and related illnesses. For the control sample, written informed consent will be obtained from the subjects before they are administered the self-report questionnaire and before the blood sample is obtained. Informed consent will be obtained by a senior member of Dr. Pulver's research team. The consent form document will inform subjects of the purpose of the study, the procedures (self-report questionnaire; blood drawing), the potential risks, the protections against those risks and the benefits of participating in the study. The consent form will contain a statement informing the subject that his or her anonymous DNA sample will be entered into a DNA repository that will be made available to other investigators. No identifying information will be linked to the DNA samples or the self-report questionnaires." From page 7 of the grant: "Margaret Daniele Fallin, Ph.D. (Investigator): Dr. Fallin will have overall responsibility for the execution of the statistical analyses. She will engage in weekly meetings of the analytic team (Drs. Pulver and Liang) and will directly supervise the Genetic Analyst (Ms. Lasseter). Dr. Fallin will also participate in the interpretation of results and manuscript preparation."

43 A study of ADHD Attention-Deficit Hyperactivity Disorder TODD, TODOROV

132 800

PI deceased, new PI (todorov) locating data 26-Jul-2018 BGR - Data sent to Rutgers July 2018 by WashU team - Gillian Davis reviewing. 11-Feb-2019 BGR - adding expected # samples and subjects based on received samples; sparse study information available. Expected # subjects will be used to populate list of studies table.

44 Genetic Analysis of 15q11-q13 in Autism Autism SUTCLIFFE

R01MH061009

165 362

45 Detection of Susceptibility Genes in ADHD Attention-Deficit Hyperactivity Disorder LOO

5R01MH058277-10

135 1200

2023-04-20 JTS: Our internal team will review what is available on ZORK and try to come up with something suitable for release. We did try to follow up with Natasha about consent, but until that is sorted out this is not our highest priority. Susan Smalley (original PI retired in 2011) 11-Feb-2019 BGR - adding expected # subjects based on grant description "increase the sample size to 600 ASPs and contribute DNAs to an NIMH cell line repository for DNA sharing" 600 affected sib-pairs = 1200 expected subjects/samples Data processing - final stages WU Finish:WU will finish and distribute before the hand over

46 DM-STAT (data coordinating site for Studies 30, 31, 33, 34 & 41) DAGER, KING

5P50HD055782-03

0

1/25/23 AG: All studies from data coordinating site have been previously released. Studies 30, 31, 33 & 34 were released 2008-06-01 and study 41 was released 2009-09-01. Updating the release date to 2009-09-01, as it is the most recent. 25-Feb-2019 BGR - adding filler start/end dates because they are required Per Tara Dutka & Lora Bingamon: "Unable to determine all the grant numbers for the studies. However, Pierre Dagher should be Stephen R. Dager for study 46. The grant number for study 46 should be: 5P50HD055782-03."

48 Genetic Linkage and Association in Bipolar Disorder / Amish Mennonite Bipolar Genetics Study (AmBiGen) Bipolar Disorder DEPAULO, MCMAHON

PART1: Application Number NA_00038551 (JH IRB #) / pART 2: ZIA MH002843-11 DIRP

186, 187, 188 471

Start and end dates are estimates based upon information found at http://grantome.com/grant/NIH/ZIA-MH002843-11 and due date of 2019 for part 2 found in BioQ: Future Action:Part II will be due in 2019, Rutgers will do. Part 1 released in BP Dist. 12.0 - 701 individuals 2021/3/3, NLS: AmBiGen estimates that they will submit 50 blood samples by March 1, 2022. The project end date is September 2023. 2022-03-25, SW: Updated AutoQC number to most recent package (606c81926c331). Please note there are other packages that exist in the AutoQC that might be more complete/relevant for particular information (e.g., 6047ab45a2ffc).

49 Genetics of Bipolar Disorder in Latino Populations Bipolar Disorder ALMASY, ESCAMILLA, GLAHN, RAVENTOS

R01MH069856

190, 191, 192, 193, 194, 195, 196, 197 2679

9-15-2022, NLS: From page 119 of the grant: ?All written consent forms (and verbal assent summaries) will describe the plan to deposit blood and blinded clinical data in an NIMH-sponsored repository for sharing with other scientists for use limited to studies of genetics of BP and related disorders and will describe the procedures employed to prevent violation of confidentiality.? From page 7 of the grant: "Dr. Glahn is an Assistant Professor at the UTHSCSA Department of Psychiatry. He is an experienced researcher in the field of neurocognitive testing in genetic studies of psychiatric disease. Dr. Glahn will instruct raters on administration of neuropsychological tests and oversee the collection of data for this aspect of the project. In year 5, he will assist Drs. Almasy, Blangero, Soares and Escamilla in analysis of Neuropsychological and Neuroimaging Qls" From page 18 of the grant: "Dr. Laura Almasy, Ph.D., Principal Investigator, (5% effort): will interact with the clinical centers to provide advice on any analytical issues affecting family recruitment and sample collection. She will be in charge of all statistical genetic analyses and will oversee the post-doctoral fellow who will perform the bulk of the day to day analytical work."

50 Genetics of Autism Intermediate Phenotypes Autism COON

R01MH069359

200, 201 1778

51 A study of ADHD MARTIN, TODD, TODOROV

5R01MH071629-02

121 1600

01-23-2023 BGR: Nick Martin confirmed the grant number of 5R01MH071629-02 and had no edits to offer for our study description: "Overview: This study began in 2006 and was interrupted by Dr. Todd?s death in 2008. The study enrolled twins, siblings, and their parents. Probands were identified using the Missouri Assessment of Genetics Interview for Children (MAGIC) PMID: 14627881 OR the SWAN questionnaire (PMCID: PMC4618695). Summary Diagnoses based on these questionnaires are available, but item-level data is not available in this data release. Samples are available for all enrolled family members (N= 1699)." BGR: Sarah Medland provided _sub and _dx file for all subjects/samples in storage for this study. (630de5791819f submitted 8/30/2022) Data is ready to release. We will need to figure out how to write their acknowledgment text and a study description, given the scarcity of information we have in the portal. Data requested; PI deceased, new PI (todorov) locating data. WashU is supposed to complete this submission. Australia data - John Rice put us in contact with Nick Martin (Nick.Martin@qimrberghofer.edu.au) and Sarah Medland (medlandse@gmail.com) to figure out the submission. Sherri should be in touch with them to schedule a training. project start and end dates estimated based on samples received dates 11-Feb-2018 BGR - added expected # subjects and samples based on number received, sparse study information available.

52 Genetics of Early-Onset Major Depression (GenRED II) Depression CORYELL, DEPAULO, WEISSMAN

R01MH060912

280, 281, 282, 283, 284, 285, 286 1902

55 Adolescents at High Risk for Familial Bipolar Disorder Bipolar Disorder MCINNIS, NURNBERGER

R01MH068009

750, 751, 752, 753 325

56 Clinical and Immunological Investigations of Subtypes of Autism Autism AMARAL, ROGERS, THURM, VAN DE WATER

Clinical and Immunological Investigations of Subtypes of Autism

163, 208 1188

LAB - 2020-05-14: Added Dr. Audrey Thurm to study personnel and updated NIMH site 163 PI from Susan Swedo to Dr. Thurm as she is now the PI for this study. deposited demographics, family structure, ADI, ADOS, IQ summary scales

58 Genetics of Brain Structure and Function Brain Function BLANGERO, GLAHN

R01MH078111, R01MH078143

136 1480

Received data Aug 7, 2015, updates Aug 19, 2015, still need family id

59 High-Density Genome-Wide Association Study of Schizophrenia in Large Dutch Sample Schizophrenia OPHOFF

R01MH078075

100 331

60 A study of Autism Autism PIVEN

167 276

351 inds released in Autism 14.0 12-Oct-2016. Project start date estimated based on first sample received date. Project end date estimated based on due date recorded in BioQ

61 Molecular Genetic Studies of Human Anxiety Disorder Fear & Anxiety HEN

P01MH60970

137 380

Released

62 Molecular Genetic Studies of Human Anxiety Disorder Fear & Anxiety FYER

P01MH60970

138 197

197 subjects w/ samples Released in Fear & Anxiety v 1.0 11-Feb-2019 BGR - added expected # subjects, samples based on expected # biomaterials recorded below. Less than half expected received, fewer still released.

63 Interdisciplinary Studies of Insistence on Sameness in Autism Spectrum Disorders Autism COOK

P50HD055751

168 515

Released in AU Dist. 13.0 22-Jul-2019 BGR: Added NDA collection number and title based on matching grant numbers

64 Center for Genomic and Phenomic Studies in Autism Autism LAJONCHERE, ROULLET, SOHL

5U24MH081810, R01MH081754

202, 203, 204, 205, 206, 207, 229 1263

transfer data from the AGRE Repository. Data processing - initial stages; Site 202 Released; Sites 203-207, 229 not released yet; Future Action: WU will update with most recent AGRE catalog; also see NDAR Collection #7. WAshU will finish. 09-19-2022, NLS: The samples from site 204 were funded by R01MH081754 and thus, site 204 should have been part of study 128, but that was discovered in 2022 years after both studies ended. To avoid causing problems in the Sampled's LIMS site 204 will continue to be part of Study 64. The samples from the other sites in this study were funded by 5U24MH081810.

65 Trio Autism Simplex Collection (TASC) Autism NURNBERGER, SZATMARI

Funded by Autism Speaks

210, 211, 212, 213, 214, 215, 216, 217, 218, 219, 220, 221 3384

dbgap list of n=7 gender discrepancies from AGP/TASC study, sent by Veronica Vieland at the AGP DCC in Columbus The TASC consortium collection and genotyping was supported by Autism Speaks. Funding for the sequencing and distribution of TASC samples was provided by the National Institutes of Health (MH094303 and MH100233). PI list: Geschwind, Szatmari, Cook, Dawson, Poustka, Gallagher, Cuccaro, Vicente, McMahon, Sutcliffe, Buxbaum, Nurnberger

66 OCD Collaborative Genetics Association Study Obsessive-Compulsive Disorder FYER, NESTADT

R01MH071507

240, 241, 242, 243, 244 3419

13-Sep-2023 BGR: on 8/30 Natasha informed us that she expects we may need to add an alt_id file for this study for newly generated dbGaP WGS data.

67 Population Based Mapping of Schizophrenia Genes Schizophrenia ESCAMILLA, RAVENTOS

R01MH061884

129 523

released in SZ distribution version19.0

68 Biological Prediction of Psychosis Susceptibility among Adolescent Cannabis Users Schizophrenia DELISI

R01DA021576

131, 18 73

Released in SZ Dist. 14.0

69 Biological and Information Processing Mechanisms Underlying Autism Autism MINSHEW

P50HD055748

209 263

Released in AU Dist. 13.0

70 Consortium for Neuropsychiatric Phenomics Research Domain Criteria BILDER

1UL1RR024911

182 1096

2020-08-16, SW: Genetic data submitted to NDA; dbGaP IDs not needed; GUIDs provided via _id file with submission 2020-03-10, SW: updated SRTP to include check for dbGaP under "Submission to Other DBs". Currently working on getting an _id file from study for what has been submitted to dbGaP. 11-Feb-2019 BGR - Updated expected # subjects/samples fields based on information in Tara's spreadsheet, and fields expected cases + expected controls. Study Information: For Rutgers Site #182 Subjects: 2100 Expected Release: Samples and data released for sharing on an ongoing basis (12 mos. after receipt of a sample and the associated phenotype data); last sample received 1/20/2012 Disease: Neuropsychiatric Phenomics (SZ, BP, ADHD) Best way to contact: Email Dr. Bilder (PI)?s email: rbilder@mednet.ucla.edu ________________________________________________________________________ Outreach Information: 2018-07-16: In contact with PI. PI will notify NRGR if there are questions regarding his submission. -SW Update as of 5/8/2018: Waiting for the NDA call to be rescheduled to explain submission process for PI Update as of 4/11/2018: PI is traveling, will return this week and respond to inquiries Update as of 3/30/2018: Corresponding via email, issues with the University were mentioned/delaying submission ________________________________________________________________________ Phenotypic Data Submission: NDA #2499 ________________________________________________________________________ Data Sharing Details: Samples and data released for sharing on an ongoing basis (12 mos. after receipt of a sample and the associated phenotype data); last sample received 1/2012.

71 Bipolar Endophenotypes in Population Isolates Bipolar Disorder FREIMER

R01MH075007

198, 199 546

2023-06-27 JTS: Nelson Freimer sent confirmation to add Ana as study personnel and May Request Samples.

72 Preventing Relapse in Schizophrenia: Oral Antipsychotics Compared To Injectables: Evaluating Efficacy (PROACTIVE) Schizophrenia KOPELOWICZ, MANSCHRECK, MILLER

U01MH070010

261 186

Received data on 5/18/2015 22-Jul-2019 BGR: Updated title to include abbreviation, added short name, added NDA collection #

73 Combining Medications to Enhance Depression Outcomes (CO-MED) Depression KORNSTEIN, LEUCHTER, PRESKORN, ZISOOK

N01 MH090003-02

287 478

478 inds released in Depression 5.0 on 24-Oct-2014 Clinicaltrials.gov identifier NCT00590863 22-Jul-2019 BGR: Added NDA collection number and title

74 Examination of Genetic and GxE Effects in the Family and Community Health Studies (FACHS) Depression PHILIBERT

R01MH080898

133, 134 800

2023-04-26 JTS: Natasha provided consent documents, see attached below. 2023-04-30 AG: (Wash U Study) We only have about 200 subjects with phenotypic data on Zork. Our issue might be linking - can we link the RC_ID?s or can we contact someone who can link them. There are no consents for this study, but Natasha is looking into whether she has old consent forms or not. 11-Feb-2019 BGR - updated # subjects, samples expected based on Tara spreadsheet Data received, processing and waiting for PI to clarify questions WU in contact with PI requesting answers to our queries. We plan to process and release in the next distribution (prior to the change in February). If the latency of PI response affects the release, we will alert Rutgers before the change in February.

75 Lithium Use for Bipolar Disorder: A Randomized Controlled Effectiveness Trial (LiTMUS) Bipolar Disorder IOSIFESCU, OSTACHER, THASE

Lithium Use for Bipolar Disorder: A Randomized Controlled Effectiveness Trial

189 192

192 inds released in BP dist 11.0 on 02-Nov-2015 Clinicaltrials.gov identifier NCT00667745 22-Jul-2019 BGR: added NDA collection # and title

76 Genomic Psychiatry Cohort (GPC) Controls, Schizophrenia BROMET, ESCAMILLA, MALASPINA, PATO

R01MH104964

251, 262, 263, 264, 265, 266, 267, 268, 269, 271, 351, 352, 844, 869 20294

01-19-2023 AG: Submitted HelpDesk ticket 4136, curation team provided feedback with updates that need to be made on 9/27/22. Waiting to hear back from the study. 2022-03-28, RC: Updated AutoQC number to most recent package (60bf844395530). Please note there are other packages that exist in the AutoQC that might be more complete/relevant for particular information (e.g., 6039164c6032e). 2021-03-01, SW: Added submission UID (6039164c6032e) 2019-09-06 (LAB): Updated the total number of expected subjects projected out to April 2021 when the project is expected to end. 2019-09-04, SW: Added Dr. Tim Bigdeli as personnel. Dr. Bigdeli is the Chief Analyst for Dr. Pato's studies. 2018/11/12: RUCDR was notified in August 2018 to destroy 2 samples due to revoked consent (MH0226581, MH0229606). Both samples were received in 2018 and no data was released for download on these subjects (last data release fro study 76 was in 2015). - BGR Added site 352-Drs. Pato/Pato moved to SUNY and Dr. Knowles took over the USC site 262; Extension of study as per Nikki 4/7/2015; will continue to submit samples using same site IDs Original grant - Grant R01 MH085548 - expected enrollment ~20,000 - ended 2013 (NCE) 2019-07-10 (LAB): Updated new grant: R01MH104964 and project end date: 01/31/2020. The NIMH PO (Dr. Tara Dutka) confirmed that the PI plans to submit a renewal application that would extend the project into 2021. Under the new grant, they have recruited ~7,000 subjects and plan to collect 5,000 more subjects over the next two years. Dr. Dutka is uncertain of the numbers the PI deposited samples from the original grant and the current grant. The estimated total for the original grant was 20,000; however, the PIs did not reach that amount. She recommended adding 5,000 to the current number of samples received, which is 22,053 as of 06/07/2019. The ~7,000 samples should have been received already as the data sharing plan states the PIs would deposit the samples as they were collected. The total number should now be 27,053. 2019-09-05 (LAB): Added expected number of subjects.

77 International Cohort Collection for Bipolar Disorder Bipolar Disorder, Controls BROMET, ESCAMILLA, MALASPINA, SMOLLER

R01MH085542

252, 270, 272, 273, 274, 275, 304, 305, 306, 307, 308, 309, 310, 311, 312, 845, 868 9378

2023-09-11 JTS: As per PI Evelyn Brommet, adding Katherine Jonas as study personnel who can order samples. 01-19-2023 AG: Submitted HelpDesk ticket 4136. Provided updates for study submission 9/29/2022. Waiting for a response with updates. 2019-09-04, SW: Added Dr. Tim Bigdeli as personnel. Dr. Bigdeli is the Chief Analyst for Dr. Pato's studies. Added site 312-Dr. Pato moved to SUNY and Dr. Knowles took over the USC site 270 Original grant - Grant R01 MH085548 - expected enrollment ~18,000 - ended 2013 (NCE) New grant to extend studies 76 and 77 Grant- R01 MH104964-01A1- expected enrollment across 2 studies (77 and 76) ~12525 - Grant began 2015 and ends in 2020/01/31. 2019-07-10 (LAB): Recruitment from this study will depend on study 76 and whether the subjects are also consented for BPD. The total number expected is not known. This study will end when study 76 ends. Study 76's current project end is 01/31/2020, however, the PI plans to submit a renewal application that would extend the project into 2021.

78 Netherlands Twin Register Netherlands Twin Register BARTELS, BOOMSMA, DE GEUS

R01D0042157-01A

169 8540

2023-05-23 AG: Dr. Boomsma requested 3 additional staff be added and marked as "may request samples" (Lannie Ligthart, Meike Bartels, and Eco de Geus). Helpdesk ticket 4747. 19-Jan-2023 BGR: Gillian and Brittany are in contact with Gonneke. Gonneke set up dual factor authentication for a secure method of data transfer with Gillian and Brittany. on 1/9 she said she would submit by 1/13, but we still have not received the data. Gillian will manage re-formatting the data for release once it is received. 26-Jul-18 BGR: Gillian in contact with Dorret for updates to NTR dist 11991 inds released in NTR dist 1.0

79 AUTISM GENETICS: HOMOZYGOSITY MAPPING AND FUNCTIONAL VALIDATION Autism DEMMER, WALSH

R01MH085143, R01MH083565

222, 223, 224, 225, 226, 227 1064

NDAR primary deposit, see collections 2029, 2283 1169 inds released in Autism 11.0 on 23-Apr-2013 FUTURE ACTION - need to collect/release pheno data on subjects collected from 2013-2017 23-Jul-2019 BGR: Added NDA collection 1951 based on grant # match; cannot locate any NDA collection 2283 as indicated above. Typo?

80 Suicidal Behavior in Mood Disorders: Genes and Intermediate Phenotypes Suicide MANN, RUJESCU, TURECKI

R01MH082041

288, 289, 290 181

Data received 6/24/2015; need information about suicide behavior and site 289 data

81 Predictors and Mechanisms of Conversion to Psychosis (NAPLS) Schizophrenia ADDINGTON, CORNBLATT

R01MH082004

291, 292, 293, 294, 295, 296, 297, 298 960

2022-03-28, RC: Updated AutoQC number to most recent package (5c472aef79621). Please note there are other packages that exist in the AutoQC that might be more complete/relevant for particular information (e.g., 5acd1d345a848). 2019-10-03 SW: Notes regardnig submission expectations, as per TD-- "NAPLS2 ? NRGR would get FIGS and demographic data and Best estimate diagnosis (BED). The rest of the phenotype data they would share with the BROAD through their MOU by direct dump(which I think they have done) but they pleaded they didn?t have the resources to clean it for NRGR. NAPLS3 everything is going to NDA and NRGR are just getting the linking GUIDs, demographic data and BED. They are working on an appropriate way to link the longitudinal data in NDA to the samples." 08-Mar-2019 BGR: Per Lora & Geetha: We followed up with the NIMH PO on this and explained that we only have the FIGS, information on diagnosis and conversion to psychosis, and demographic information for NAPLS2, but we have had difficulty in obtaining the rest of the clinical information from Dr. Perkins. The Broad has the detailed clinical interview data, but we doubt we?ll be able to get Dr. Perkin?s to provide this. The PO confirmed that we can close out the NAPLS2 study. 11-Feb-2019 BGR - updated fields expected # subjects, samples based on notes below and tara spreadsheet Study Information: For Rutgers Additional Study Information: Study PIs: Addington, Walker, Seidman, Mathalon, Cannon, Cadenhead, Perkins, Woods, Cornblatt Project Number: 5U01MH082004-05 Former Number: 1R01MH082004-01A1 Grant Number: R01MH082004 Start Date: 30-SEP-2008 End Date: 24-SEP-2014 Study Contact: PERKINS, DIANA Contact email: Diana_Perkins@med.unc.edu Distribution: Training Date: 9/20/2017 8 Sites: 291-298 960 Subjects Samples and data released for sharing 12 mos. after receipt; last sample received 7/24/2014; due 7/24/2015 ________________________________________________________________________ Outreach Information: Notes (confirmed contact, status, etc.): 3/16/18: Submitted, In contact ________________________________________________________________________ Phenotypic Data Submission: Submitted as of 3/2018!

82 Expanding Rapid Ascertainment Networks of Schizophrenia Families in Taiwan Schizophrenia TSUANG

R01MH085560

183 9083

diagnosis data received and released, waiting for English version DIGS data to release.

83 Incomplete Response in Late Life Depression: Getting to Remission Depression MULSANT, TSUANG

R01MH083660

277, 278, 279 437

Data received; waiting for processing

84 Predictors of Antidepressant Treatment Response: The Emory CIDAR; Predictors of Treatment Response, Relaps, and Recurrence in Major Depression Depression CRAIGHEAD, MAYBERG

P50MH077083, R01MH080880

276 231

460 inds released in Depression 7.0 on 08-Feb-2018.

85 Language and Risk in Schizophrenia Schizophrenia DELISI

R21MH083205

260 90

Released in SZ Dist. 14.0

86 Autism-Spectrum Disorder Genetics Autism HAINES, PERICAK-VANCE

Autism-Spectrum Disorder Genetics

230 200

05-Mar-2018 BGG: Start dates and end dates estimated based upon grant history in NIMH Reporter. 210 individuals released in AU dist 14 12-Oct-2016

87 Emory-MSSM-GSK-NIMH Collaborative Mood and Anxiety Disorders Initiative Post-traumatic Stress Disorder MAYBERG

U19MH069056

299, 300, 313, 314 108

RFD send;Data requested; Released in PTSD Dist. 1.0 (11/8/2016); will get clinical trial data from NDCT Future Action: clinical trials Data being submitted to NDA-CT therefore Rutgers will process data

88 Depression Susceptibility Genes and Networks: Expression, eQTL and GWAS Analysis Depression LEVINSON

RC2MH089916

621 463

90 A genome-wide association study of Schizophrenia in Ireland Schizophrenia CORVIN, RILEY

R01MH083094

301, 302 562

clinical data will be released June 2017.

91 Whole-genome sequencing for rare highly penetrant gene variants in schizophrenia Schizophrenia GOLDSTEIN

RC2MH089915

258, 259 226

BGR 23-Apr-2019: In RUCDR records, email is listed as d.goldstein@duke.edu

92 Family-Based Genome-Wide Methylation Scan in Neurocognition and Schizophrenia Induced Pluripotent Stem Cells GUR, NIMGAONKAR

RC2MH089973

320, 321, 322, 323 130

Released in iPSC Dist. 6.0 (1/25/2017)

93 Identifying Intermediate Phenotypes for Compulsive Hoarding Obsessive-Compulsive Disorder MATHEWS

R21MH087748

245 120

94 Common and rare variant genetic screens for clozopine-induced agranulocytosis (CIAC) Schizophrenia SULLIVAN

R01MH080403

324, 325, 326 270

17-Jan-2019 BGR: I am going through and mapping the files per study into the new directory structure for the new website, and part of this process is (quickly) reviewing the submitted phenotypic data to give a short explanation of what the data includes before the user downloads it. I noticed that the data submitted for this study are all about agranulocytosis, and the "short-name" for the study listed on the website is CIAC. I've also been trying to go to SRTP and check that the study names and descriptions are more informative (vs "a study of schizophrenia" for example). In this case, the title did not communicate very well the type of data we have. It also doesn't match the title that WashU had in BioQ or the study description / publication included in the documentation for SZ dist 20.1. The grant number does match the rest of the documentation, I assume because it's a broader grant that a portion of funding was used for this study. I changed the study description to match what is in the documentation posted on the website.

95 Abnormal Sterols in ASD and NIMH HGI Repository Expansion (4000) Autism TIERNEY

RC2MH090027

232, 233, 234 400

2023-04-26 AG: The curation team reformatted study 95's .zip file to our updated formats. Our feedback was sent to Dr. Tierney with the updated file and the updated checklist. 2019-05-19, SW: Study submission details: Study submitted to the AutoQC. The last submission was on 5/13/19. The only difference should be one added individual. AutoQC ID: 5cd9d27743d85. In the original submission there were 19 IDs not accounted for. In the new submission there are 18. Reason for not including information on those 18 include no records/ineligible. PI gave OK to have these samples destroyed. 11-Feb-2019 BGR - adding 400 subjects/samples expected based on tara spreadsheet and notes contained below. Study Information: This project is a partnership in which the NIMH repository provided sample collection supplies and DNA to a privately funded mental health project in return for the samples and data being distributed through the repository in perpetuity. As such, this project is not subject to NIMH grant terms, but they are subject to the agreement they had in place with the repository prior to submitting any samples. This agreement says we get all the data to go with the samples. NIH funded projects on Autism must put their data in NDAR, but other researchers are also encouraged to do so. *PI DOES NOT EXPECT TO SUBMIT TO NDAR* For Rutgers ________________________________________________________________________ Phenotypic Data Submission: Expected number of subjects: 400 3 sites: 232, 233, 234 PIs: Tierney, Porter, Arnold Study Contact: Dr. Tierney, contact information below Original Due Date: 11/30/2013, now expected 6/2018 Data should have been sent to the repository every 6 months, all data was indicated would be provided for the release. These are the data structure we were told should be coming: The structure and sample size of the study are described below. The number of blood samples proposed to be collected on ASD subjects and their parents and siblings is summarized below. Their cholesterol level status will be known prior to the visit during which the blood will be drawn for the NCGS. No child will have been on a medication that is known to lower cholesterol levels for at least 3 months prior to the blood draw. Hypocholesterolemia is defined as being below the 5th centile of age- and sex-specific mean cholesterol levels of individuals who participated in the CDC?s National Health and Nutrition Examination Survey (NHANES) 2005-2006 study. Hypercholesterolemia is defined as being above the 95th centile. From the age- and sex-specific mean cholesterol values, the standard deviation used to calculate the 5th and 95th centiles was 1.646. 1. Data structure ? Year 1 and 2. A. Interview and collect blood on 150 individuals age 4 ? 12 with autism spectrum disorder [60 with hypocholesterolemia (60 hypo), 60 with normal cholesterol (60 normal), and 30 with hypercholesterolemia (30 hyper)]. B. Collect blood on the biological parents of the 60 ASD subjects with hypocholesterolemia. C. Collect blood on the ASD full-siblings and half-siblings of the 60 ASD subjects with hypocholesterolemia. D. Data structure for the collection of blood from ASD subjects and their parents and siblings: ASD Subjects: 30 hyper, 60 normal, ~60 hypo, 150 total Mother of 60 hypo: 0 hyper, 0 normal, ~60 hypo, ~60 total Father of 60 hypo: 0 hyper, 0 normal, ~60 hypo Siblings of 60 hypo: 0 hyper, 0 normal, ~120 hypo Total number of blood samples: 30 hyper, 60 normal, ~300 hypo, ~390 total (Reported in Data Sharing SS that there are 400 subjects) Environmental indices including social economic status will be evaluated. Parental psychopathology and family dysfunction will not be assessed. 1. Structured diagnostic criteria- Rigorous procedures are in place for characterization and direct assessment of ASD. Psychiatric diagnoses of Autistic Disorder, Asperger?s Disorder, or Pervasive Developmental Disorder-Not Otherwise Specified (PDD-NOS) will be assigned by the clinician after careful review of the results from Autism Diagnostic Interview- Revised (ADI-R), Autism Diagnostic Observation Schedule (ADOS), DSM-IV-TR checklist as well as other study assessments. 2. Comprehensive phenotypic assessment- A medical record review will be performed (when available). A Family and Medical History Questionnaire, which includes questions regarding the gastrointestinal history, the family sleep history, the pregnancy history, and the Rochester Obstetrical Scale. From the child with ASD, we will perform an IQ assessment (Stanford Binet-V, Differential Ability Scale, or Mullen Scales of Early Learning), Autism Diagnostic Interview-Revised (Regular and Current state algorithms), Autism Diagnostic Observation Schedule, Physical exam, Physical parameters (height, weight, temperature, respiratory rate, abdominal circumference, hip circumference, calculation of basal metabolic rate, heart rate, blood pressure, and Occipital-Frontal Circumference if not obtained at Screening Visit); Inner Canthal Distance Measurement; Photos [midfacial and both feet (from above)]; Quality of Life Questionnaire; Ohio Autism Clinical Impression Scale (OACIS)- Severity; Aberrant Behavior Checklist-Community (ABC-C); Speech and Language Testing (via Expressive Vocabulary Test-2 Form A and Peabody Picture Vocabulary Test-4 Form A); the Vineland Adaptive Behavior Scales-II, a 3-day dietary log and the MEDFICTS cholesterol dietary questionnaire will be performed. Direct interviews will be conducted by a well-trained assessment team with established expertise in structured research assessment and application of rating scales for measurement of symptoms and function. We have extensive experience of applying structures assessments, training, and maintaining quality control, including monitoring reliability. ________________________________________________________________________ Outreach Information: As of 2018-07-16, in touch with study. Study actively working on submission. Message sent via help desk to study on this date. -SW

96 Olanzapine Versus Placebo in Outpatients with Anorexia Nervosa Eating Disorders ATTIA, STEINGLASS

R01MH085921

395, 396, 397, 398, 399 73

11-Feb-2019 BGR - added expected # subjects, samples 160 based on notes below and tara spreadsheet. Outreach Information: *TRAINED* As of 5/8/2018: In touch with someone from Dr. Attia?s team, scheduling training 5/1/2018: Called Dr. Attia at (646) 774-5000, left message *Still trying to schedule training!* As of 4/11/2018: Dr. Attia is away, will contact next week to ask about status of submission ________________________________________________________________________ Study Information: For Rutgers Additional information: PIs: Attia, Steinglass, Guarda, Marcus, Kaplan Study Contact: Dr. Attia EMAIL ea12@cumc.columbia.edu PHONE (646) 774-8085 FAX (212) 543-5607 Alternative Contact: Barbara Smolik, 646-774-8084 Sites: 5 (395-399) 160 Subjects Clinical Trial Number: NCT01170117 Data will be deposited within 3 months from end of data preparation There is data on clinicaltrials.gov, but it is not individual level ________________________________________________________________________ Phenotypic Data Submission: The outcome measures were BMI and Obsessions subscale of the Yale-Brown Obsessive Compulsive Scale. Minimum score is 0 and maximum score is 20. Higher scores indicate higher levels of obsessions. Measures were taken pre and post treatment. There were two arms of treatment. We are expecting the submission file, dx file, and the treatment and outcomes measures. The study is complete on clinical trials.gov now and they have published.

98 The Effects of Estradiol on Genetic Risk for Disordered Eating during Puberty Eating Disorders KLUMP

R01MH092377

246 362

860 inds released in Anorexia dist 2.0 Yunfei Wu (email: wu.yunfei@gmail.com) is contact provided from BH.

99 Brain-Behavior and Genetic Studies of the 22q11DS 22Q11.2DS GUR

U01MH087626

247, 248 1000

2023-07-31 JTS: Marked ready for release. Study provided with final submission checklist. 2023-07-31 JTS: New submission at AutoQC #64c2cf0f564c9. Looks good. Just need to know what 9 means in the _PHEN files. Then we'll update and have Kosha resubmit. Kosha confirmed 9 indicates "missing". Marco made a new package, Kosha reviewed and resubmitted at AutoQC #64c7ed05da35f. 2023-07-28 JTS: New submission at AutoQC #64c2cf0f564c9. Replacing old AutoQC #64c04f76d68f6. 2023-07-23 JTS: New submission from Kosha at AutoQC #64c04f76d68f6. Replacing old AutoQC #64aeb1af3ad84. Kosha updated the study description with the info about how the DSM4 diagnoses were obtained, and updated the linker subjects. I sent back feedback that linkers should have "NULL" dx_study and asking them to address the question about parents and siblings all being diagnosed 22q. 2023-07-14: Sent feedback to submitter via HD#4773. Study needs to add UNK/UNA diagnosis and fix linker subjects. 2023-07-12 JTS: New submission made at AutoQC #64aeb1af3ad84. Old AutoQC #643f45f6300d1. 2023-06-13 BGR: The study sent in a letter signed by their AOR affirming that they will complete their data submission, including addressing all NRGR feedback, by 01-Sep-2023. Their intent sending this letter is to allow us to release the hold on their samples that is preventing study 210 from receiving samples (HD ticket #4742). We will confirm with NIMH that the letter is acceptable and then release the hold on the samples. 2023-04-28 JTS: Sent submission feedback via HD#4600. Requesting DX info, 1 missing subject/sample, and linkers added for 14 subjects with only one parent. 2023-04-18 JTS: Study made new submission. Updating AutoQC number from 63f58ff716cd3 to 643f45f6300d1. 2023-03-03 JTS: initial review feedback sent to submitter via HD#4600. 2-22-2023 AG: Updated the AutoQC number from 62a8dfabc1ff8 to 63f58ff716cd3. 2022-12-21 BGR: KRuparel is actively submitting to AutoQC and most recently opened helpdesk ticket 4600 asking for help with some error messages. Marco answered their question. Other bacground: 9/21/2022 - BGR Sent comprehensive request for updates to Raquel Gur and KRuparel (submitter of latest package). JV: on 11/4 Kosha responded with pubs/ack. 2022-06-16 RC: Updated AutoQC number to reflect the most recent submission. AutoQC number changed from 60ff76c895325 to 62a8dfabc1ff8. 11-Feb-2019 BGR - added expected # subjects 1000 based on tara spreadsheet and notes below. For Rutgers Status as of 3/30/3018 = submitted Additional Information (Data Sharing SS): PIs: Gur, Emanual Contact: Dr. Raquel Gur (raquel@mail.med.upenn.edu) 2 Sites: 247, 248 1,000 Subjects [note to SW- going to another repository? disorder?]

100 A Longitudinal Imaging Study of Infants at Risk for Autism Autism BOTTERON, PIVEN

R01HD055741

236, 237, 238, 239 0

NIH Reporter Project End Date: 31-MAY-2017 from bioq: WashU will complete curation, RU will release. NDAR primary deposit; Data was shared in C0019, C2027 2009-2014.

101 Pharmacogenomics of Mood Stabilizer Response in Bipolar Disorder Bipolar Disorder BERRETTINI, CORYELL, KELSOE, LOHOFF, MCINNIS, NIEVERGELT, NURNBERGER, ODEGAARD

U01MH092758

420, 421, 422, 423, 424, 425, 426, 427, 428, 429 700

2022-04-08, RC: Updated AutoQC number to most recent package (61f2c2856dfa8). Please note there are other packages that exist in the AutoQC that might be more complete/relevant for particular information (e.g., 605372109c74d). 2021-11-17, SW: Anatasia, after investigation, stated the 65 individuals "missing" data in the submission are either duplicates in our system or the study does not have records on them. 2021-03-22, SW: Anastasia Yocum submitted on behalf of Study 101; as of this date project 101 is mostly complete from the NRGR perspective, but 65 discrepancies are being investigated 11-Feb-2019 BGR - added expected # subjects = 700 based on tara spreadsheet and notes below For Rutgers; https://clinicaltrials.gov/ct2/show/NCT01272531 Additional Information: 10 Sites: 420-429 700 subjects Clinical Trials (as per Data Sharing SS), not going to NDA (there was confusion given Collection Number 2497 at NDA). PIs: Kelsoe, Nievergelt, Calabrese, Nurnberger, McInnis, Gershon, Potash, Zandi, Berrettini, Lohoff, Coryell, Alda, Odegaard Study Contact: Dr. John Kelsoe PHONE (858) 534-5927 FAX (858) 822-1490 EMAIL JKELSOE@UCSD.EDU Subjects will be interviewed using the Diagnostic Interview for Genetic Studies (DIGS4) Collateral information will be obtained from family members and medical records. Diagnoses will be made by review of all information by experienced clinicians using a well established best estimate procedure. Diagnoses will be made using DSM-IV criteria. Verified diagnostic data- Within 12 months of data verification but (best-estimate final diagnoses) no later than 6-30-2015. Would like item level DIGS, they were not specific as to only giving a final diagnosis and we want DIGS data. In addition to the DIGS diagnostic interview, subjects will be extensively assessed during a 2.5 year prospective mood stabilizer trial. Subjects will be stabilized on lithium monotherapy over a 3-4 month period. Those that fail lithium will be crossed-over to valproic acid. Subjects stabilized on mood stabilizer will be followed for two years or until relapse. Survival analysis will be used to detect gene effects on time to relapse. During the stabilization phase, subjects will be assessed approximately every 2 weeks and during maintenance every 2 months. Assessments will include the Quick Inventory of Depression Symptoms, the Hypomania Checklist, the Hamilton Rating Scale for Anxiety, the Montgomery Asberg Depression Rating Scale and the Young Mania Rating Scale. Treatment response data Within 12 months of subject completion and data verification but no later than 6-30-2015 Need at least the ratings, push for as much item level data as possible. GWAS genotypes The genotype data will be made available through dbGAP as soon as appropriate quality control measures are complete and a 12-month period of exclusivity would exist for PI to submit analyses of GWAS datasets for publication. *Need linking IDs to dbGaP*

102 Genomic Studies of Bipolar Disorder in a Large Cohort from the Netherlands Bipolar Disorder OPHOFF

R01MH090553

430, 431 2500

06-01-2023 BGR: BGR met with Annabel Vreeker to help her troubleshoot her most recent data submission. Sent her (via box) an updated submission package that we edited live together, along with a summary of the edits, and instructions to re-submit. Annabel clarified that there are some subjects who revoked their consent, so we removed them, and she instructed the PI to send the destruction request to IBX. She also clarified that "DIS" is the appropriate consent level based upon the language in their consent form. Finally, she confirmed she will add back in the _pubs and _ack files into her next submission, but she can't add the _phen file with additional diagnostic information, because the consent form specified they can only share a limited number of fields (I believe this is why the release was put on hold in the past). She will resubmit soon. 01-19-2023 AG: Marco met with Annabel on 12/22/22 and addressed her concerns. She is speaking with the PI about the dx_confidence field before resubmitting. 2019-09-09, SW: Study requested that release be put ON HOLD. SW will make note of when this study provides permission to resume with release. 11-Feb-19 BGR - added expected # subjects = 2500 based on tara spreadsheet and notes below. Annabel is working on submission Contact information: a.vreeker@umcutrecht.nl Need _id file for dbGaP For Rutgers PIs: Ophoff, Daalman 2 Sites: 430, 431 2,500 subjects Data Expected: Demographic info - _sub & _dx files Alternate IDs (ie dbGaP, linking samples/pheno data to genetic data)- _id Family history & relevant medical history ? especially drugs/response to treatment in clinical trials. Data Dictionaries for Schedule for Clinical Assessment in Neuropsychiatry (SCAN) and NIMH-Life-Chart Method Interviews (NIMH-LCM-I)- _phen_dd

103 Efficacy and Tolerability of Riluzole in Treatment-Resistant Depression Depression FAVA, MATHEW, SANACORA, ZARATE

5R01MH085055, 5R01MH085054, 5R01MH085050

622, 623, 624, 625 275

01-MAR-2019 BGR: Deleting site 625 per instruction from Geetha 11-FEB-2019 BGR - Added expected # subjects = 275 based on tara spreadsheet and notes below For Rutgers

104 Comparison of Long-Acting Injectable Medications for Schizophrenia (ACLAIMS) Schizophrenia BYERLEY, CAROFF, JARSKOG, KONICKI, LAMBERTI, STROUP

R01MH081107

327, 328, 329, 330, 331, 332, 333, 334, 335, 336, 337, 338, 339, 340, 341, 342, 343, 344, 345, 346, 347 174

Data received on 5/18/2015 22-Jul-2019 BGR: Added NDA collection number and title

105 Establishing Moderators/Biosignatures of Antidepressant Response- Clinical Care (EMBARC) Depression MCGRATH, TRIVEDI, WEISSMAN

U01MH092221, U01MH092250

626, 627, 628, 629 400

2023-07-11 AG: Updated AutoQC from 649b5046970c2 to 64ad763ceba32.They address all of our feedback and submitted the destruction letter to Dave on 7/7. (Requested Destruction: Subject (629-MG0024) and samples (MH0159486, MH0159543)). This study is Ready for Release. 2023-06-28 AG: Updated AutoQC from 63f656ee9efe4 to 649b5046970c2. 2023-02-22 AG: Udpated AutoQC submission from 63e3cd4228ada to 63f656ee9efe4. 2023-02-08 AG: Updated Auto QC Submission from 637be08cb26f3 to 63e3cd4228ada. Sent corrections, still missing GUIDs in alt ID file. 2022-11-30 BGR: Thomas Carmody submitted 637be08cb26f3 on 11/21/2022. Curation identified multiple updates that are required, including >1000 missing RUIDs. No GUIDs were submitted in their alternate ID file. Will need to reach out to study to provide additional feedback. added expected # subjects = 400 based on tara's spreadsheet. multiple samples submitted per subject, as is a timepoint study. For Rutgers

106 Collaborative Genomic Studies of Tourette Disorder Tourette Syndrome BROWN, COFFEY, GILBERT, GRICE, HEIMAN, KUPERMAN, STATE, TISCHFIELD, ZINNER

R01MH092293

600, 602, 603, 604, 605, 606, 607, 608, 609, 610, 611, 612, 613, 614, 615, 616, 617, 618, 619, 620 2645

Updated data received 9/15/2016; Received some data on 1/29/2015; not ready for distribution BGR 22-Oct-18: According to abstract description in grant, 5050 subjects/samples were expected. Not sure where the 1548 expected # came from. All sites need investigator information to be added.

107 RAISE - Early Treatment Program (ETP) Genetics Schizophrenia KANE

HHSN-271-2009-00019C

350 400

01-20-2023 AG: Updated AutoQC submission from 5db72d57d568a to 618ed51d04ad8. File was originally submitted from an e-mail and uploaded to AutoQC. 2022-07-19, SW: AutoQC UID has been changed. Previous UID was another study's run. Gillian likely sent this package through after file dump from study (therefore, no AutoQC run from study member). Checklist reflects 5d517506b0cc2 and 5db72d57d568a as AutoQC runs. Updated SRTP to the later submission. 2022-04-08, RC: Updated AutoQC number to most recent package (619820b52b582). Please note there are other packages that exist in the AutoQC that might be more complete/relevant for particular information (e.g., 5d517506b0cc2). 2019-10-07, SW: Input AutoQC number for package curator created (above); this submission was originally an emailed submission. 2019-07-16, SW: NDA collection number changed from 2499 to 2249 11-Feb-2019 BGR - Added expected # subjects = 400 based on tara spreadsheet Responsible Party: John Kane, Chairman, Psychiatry, Northwell Health ClinicalTrials.gov Identifier: NCT01321177 Other Study ID Numbers: HHSN271200900019C, HHSN271200900019C

108 Sustaining Remission of Psychotic Depression Depression FLINT, MEYERS, ROTHSCHILD, WHYTE

5U01MH062518, 5U01MH062624, 5U01MH062565, 4U01MH062446

630, 631, 632, 633 177

109 Discovery Science of Human Brain Function Across the Lifespan Brain Function MILHAM

R01MH094639

303 331

2023-07-06 AG: Updated AutoQC from 60d4b4c90d4dc to 64a5c4b5c83f1. 2023-02-16 JTS: Natasha and Jonathan met with study and provided the following final decisions: The PIs need to get approval from their IRB to provide diagnoses for subjects. They will not share clinical instruments. They will provide an alt_id file so that researchers could link data for a particular subject between NRGR and the study?s website (which will have the instrument data and the imaging data). Natasha agreed that on a study level, we can link to their website, will need to discuss how to do this. 09-Feb-2023 BGR: Alexandre Franco sent email to BGR with some proposed ind_id updates. BGR and Dave Keller reviewed submission paperwork and pictures of blood tubes to try to confirm; 3 ind_id updates will be necessary in LIMS and 3 need further investigation by the study because all of the documentation matches what is recorded in LIMS. Also informed the study they do not need to submit timepoint files as their additional samples per subject are re-draws at random, not clinically significant timepoints. Finally, noted that NIMH is still determining with the study leadership what phenotypic and diagnsotic data will be required at a minimum to store at NRGR. 01-19-2023 AG: the study wants to remove diagnostic data and direct the users to NKI where they plan to keep item level phen data. NIMH is making contact with the study to keep the data with us. 09-NOV-2022 BGR: We sent notification emails to all 3rd-party recipients of samples from study 109 to inform them that demographic and diagnostic changes to released subjects are forthcoming "NIMH Repository & Genomics Resource: Upcoming Data Edits for Brain Function Study 109". Jaclyn Vitanza sent the emails and cc'd BGR. Note on sample: Grant ended 2015 with NCE planned enrollment was 1000, but only reached half of that- however the registration occurred in 2012 and they said it would enroll 1000 over 4 years so that would put its end date in 2016 - no record of more to be sent. The PI registered a new project, Study 187, which they were to start sending data on last year. Check that the samples sent last year were not assigned to an incorrect project. Another possibility is that this grant just applied for a renewal (under review) and may have begun collecting again not realizing they had to alert us to expect more samples.

110 D-Cycloserine Augmentation of CBT for Pediatric OCD Obsessive-Compulsive Disorder GELLER, STORCH

R01MH093402, R01MH093381

249, 250 116

Rachel Porth was working on submission, but left her position as of 6/22. Trained Rachel's replacement (Hannah Smilansky) and the individual now responsible for submitting data (Sandra Cepeda) on 6/27. No NDA submission yet due to consent issue (whether or not the consent explicitly asks participants if they allow their information to be shared-- reference email from Sandra on 6/21, consents were determined to be appropriate). It was determined that this study will submit to us and NDA by 7/15/18. -SW ________________________________________________________________________ For Rutgers; https://clinicaltrials.gov/ct2/show/record/NCT01411774 DUNS Number: 073130411 Project Start Date: 1-JUN-2011 Budget Start Date: 1-MAR-2013 CFDA Code: 242 Project End Date: 28-FEB-2015 Budget End Date: 28-FEB-2014 Data Sharing Plan: ½ and 2/2 D-cyloserine Augmentation of CBT for Pediatric OCD, MGH PI: Dr. Daniel A. Geller; USF PI: Dr. Eric Storch Summary: The purpose of the proposed study is to conduct a double-blind, placebo-controlled trial of D-Cycloserine augmentation of cognitive behavior therapy in pediatric patients with obsessive compulsive disorder, in order to determine whether DCS augments the short-term efficacy of CBT to a greater extent than does placebo Another objective is to collect blood samples, create cell lines and extract DNA for future genetic research, including functional gene studies and sequencing, using results from the Genome-Wide Association study (GWAS) of OCD (MGH is coordinating site for GWAS) to examine specific loci in glutamatergic genes. This study is occurring at two sites, MGH, and the University of South Florida. Over the course of four years, each site will recruit 75 participants. If the participant consents to an optional, additional blood draw, this single draw will take place at the screening visit. Subjects unwilling to provide blood may instead give saliva, which will be sent to the NIMH OCD repository at Rutgers where DNA will be extracted and, from blood samples, lymphoblastoid cell lines established. Genotyping is not part of this proposal. Human Subjects Protection: Samples will come from children aged 7-17 who have a primary diagnosis of OCD. At this time no samples have been collected. All samples obtained will be assigned a coded identification number, the key to which will be kept in a separate locked file. No identifying information will be included on the samples. The coded blood or saliva samples will be sent to the National Institute of Mental Health OCD repository at Rutgers University. All personnel working on the genetic component of the project will be blinded to the clinical data collected from the subjects. Biospecimen Collection and Disbursement: We will be submitting blood samples to the NIMH repository, Rutgers Cell and DNA Repository (RUCDR). Participants will be correctly consented by the study P.I., either Dr. Daniel Geller or Dr. Eric Storch, for the donation of biospecimens samples that will result in the creation of lymphoblastoid cell lines and products derived from them (eg. DNA and RNA). Only participant who are correctly consented for the sharing of information and samples will be sent to the NIMH repository (RUCDR). Such samples and information can be distributed to other research projects dependent on NIMH approval. These samples are under the sole governance of NIMH. The consent form for this study is in compliance with the NIMH sample consent form. Samples will be submitted in accordance to standard operating procedures as directed by RUCDR. Upon request, the PI anticipates DNA samples to be returned for future studies. Up to 35ug of DNA from cell lines and 20ug of DNA from saliva may be requested by the investigator(s) at no cost. Genetic Analysis and Data: The reason for collecting genetic blood samples is to create cell lines and extract DNA for future genetic research, including functional gene studies and sequencing, using results from the Genome-Wide Association study (GWAS) of OCD (MGH is coordinating site for GWAS) to examine specific loci in glutamatergic genes. Genotyping is not part of this study?s protocol. Computerized Database: All data related to the identification and blood samples of this study?s participants will be saved on a password protected Excel spreadsheet. The file will be saved on a shared network, behind the Partners firewall. This shared network will only be accessible to study staff and is further protected by a second password. Files on the server are backed up nightly Data Dissemination: Applicant?s organization must comply with the NIH Grants Policy Statement, pages 115-116; ?Sharing of Unique Research Resources? revised December 1, 2003, related to the distribution of unique research resources produced with DHHS funding. Principal Investigator(s) will endeavor to publish all findings in peer-reviewed journals as soon as possible and provide all supporting data to the public domain. Because the community standard for early data release is evolving, grantee?s data sharing may be reassessed at the end of each funding period. The data generated under the ?Genetic Analysis and Data? section will be submitted and released to the public in accordance with the following schedule. Timelines: Resource / Deadlines for Submission / Resource Released: 1. Blood samples / Submitted as collected on continuous basis /6 months after the last sample is received 2. Phenotypic/clinical assessments / Submitted within 6 months of subject blood sample collection and submission / Assessment data released with biospecimens. 3. GWAS data with accompanying study documents, and phenotype data / NA / NA The following clinical measures were in the project: Schedule for Affective Disorders and Schizophrenia for School-Age Children (K-SADS-PL) WASI IQ score CY-BOCS Clinical Global Impression-Severity (CGI-S) Global Impression-Improvement (CGI-I) Children?s Depression Rating Scale-Revised (CDRS) Family Accommodation Scale (FAS) Child Obsessive Compulsive Impact Scale (COIS) Columbia Impairment Scale (CIS/CIS-P) Obsessive-Compulsive Inventory-Child Version (OCI-CV) Multidimensional Anxiety Scale for Children (MASC) Child Behavior Checklist (CBCL) Brief Symptom Inventory (BSI) Client Satisfaction Questionnaire (CSQ-8) Therapist Alliance Scale?Child/Parent Reports (TAS-C/P) CBT Adherence and Competence Homework Compliance Expectancy Rating Questionnaire (ERQ) Hierarchy Progression Index (HPI) Efficacy and safety measures

111 Biomarkers for Psychosis in Velo-cardio-facial Syndrome 22Q11.2DS KATES

R01MH064824

394 64

112 The Genetics of Autism: Epilepsy as a Biomarker Autism DEVINSKY

The Genetics of Autism: Epilepsy as a Biomarker

724, 725, 740 388

414 individuals released in Autism 14.0 on 12-Oct-2016. Project Start date estimate based on first sample received. Project end date estimate based on due date listed in BioQ. study co sent documentation; clarified duplicate named columns; study co Laze sent data; PI Dr. Devinsky declined to use study resources for automated QC system when offered via conference call

113 Identifying Biomarkers for Post-Partum Depression in African-American Women Depression RUBINOW

R01MH095992

634 2000

2023-08-30 AG: Study provided dbGaP collection # in email response. Added "phs002103.v1.p1" above. 2023-07-18 JTS: Submission had minimal changes, nearly all of the previous feedback was unaddressed. Sent feedback package to Jerry via email. 2023-07-14 JTS: Study made new submission. New AutoQC# 64b18cd9ce4cd. Old AutoQC#: 5cc32b74aa603. 2023-05-02 JTS: Sent feedback to study via email (sent to guinti@email.unc.edu). Compiled all previously submitted files/data, updated formats. Requesting more dx/edx info, subjects with extra samples, linking IDSs, clarification about time points. 2023-04-10 JTS: As per 2017 training slides we are expecting: Linking IDs for dbGaP (GWAS, transcriptome, and methylome going to dbGaP), Phenotypic Data (MINI-Plus 6, Medical Outcomes Survey SF-12 v2, Everyday Stressors Index, Postpartum Bonding Questionnaire). More about Phenotype measures and inclusion criteria in training slides. 11-Feb-2019 BGR - added expected # subjects based on tara spreadsheet For Rutgers Update: 4/2/2018: Actively working on submission- SW 8/28/2018: SW called Jerry after 2 email attempts. Asked when to expect submission. Stated by the end of this week.

114 Mapping the Human Connectome: Structure, Function, and Heritability Brain Function VAN ESSEN

U54MH091657

400 1800

1-31-2023 AG: Updated Auto QC submission from 63c9acb0b2e94 to 63cabbc843a76. Marco adjusted the alt id file submission to reflect the Human Connectome DB ids. 01-20-2023 AG: Updated Auto QC submission from 639cef7bb2484 to 63c9acb0b2e94. Submission failed, because we are waiting for an ind_id to be fixed in the repository. All other corrections were made for the submission. 01-19-2023 AG: Updated Auto QC submission from 610d878c107e6 to 639cef7bb2484. This is a failed submission, but there was a bug causing the pubs file to fail. Submission updates include missing dbGaP ID, one subject missing NDA, dbGaP, & ConnectomeDB IDs. Requests were sent to Sandy 1/12/23. 2022-08-26 BGR: Sent email to Sandy Curtis and David Van Essen to describe how the submission needs to be updated to complete their requirements (missing subjects, samples, linking IDs, dx description needs to be updated). 2021-03-10, SW: Changed collection from iPSC to Brain Function. 11-Feb-2018 BGR - added expected # subjects based on Tara spreadsheet 5/15/2018: S. Curtis submitted via AutoQC for manual curation Tara 4/5/2018- Added dbGaP and connectomedb information For Rutgers

115 Exploring the Neuronal Phenotype of Autism Spectrum Disorders Using Induced Pluri Induced Pluripotent Stem Cells, Phelan-McDermid Syndrome DOLMETSCH, HALLMAYER

R33MH087898

726, 734 188

2023-07-21 AG: Dr. Hallmayer requested the destruction of 5 samples, including the 2 chromosomal abnormality lines (MH0204204, MH0204205, MH0204206, MH0162764, MH0204201). (Letter_JFH.pdf) 2023-06-21 AG: Dr. Hallmayer confirmed that 2 subjects (8343, 2242) with 3 samples (MH0204204, MH0204205, MH0204206) were not consented for sharing. They are controls in this study and were no pursued for re-consenting. We requested that Dr. Pasca add these subjects into his destruction letter for the de novo chromosomal abnormalities. 2023-06-13 JTS: Had meeting with Pasca and Hallymayer regarding clarifying status of samples/data and sharing responsibilities. See meeting notes. 2023-04-13 AG: Completed the submitter form for the Singec lines. We tried to reach out to Dr. Hallmayer about column genetic_dx_variant_1_nt_seq, but he doesn't know any information about the ipsc sequencing. Sent to ISI for release. 08-Feb-2021 BGR: Added file attachment NCAT_SINGEC submission form_2023_01_11.xlsx - iPSC Submitter form filled in by Jen Moore for iPSCs generated by Ilyas Singec using study 115 source material. Ilyas Singec is external to study 115, but these samples will be released into study 115, as he does not have an NIMH study, and it will make the sample accounting and linking to original subject data easier. Jen Moore still needs to follow up with IBX/Sampled IT people to get the RUIDs transferred over to NIMH project #115 in LIMS. 11-Feb-2019 BGR - Added expected # subjects based on tara spreadsheet

116 Cellular and genetic correlates of increased head size in autism spectrum disorder Autism, Induced Pluripotent Stem Cells VACCARINO

R33MH087879

727 19

2023-09-15 JTS: Livia submitted letter from PI to Sampled requesting return of samples with revoked consent. 2023-08-29 JTS: New submission at AutoQC #64ee0f675af26. Old AutoQC #648b5fc630bd8. 2023-07-11 JTS: Sent feedback package to Livia: Changes required: add pub info for originating studies to DX descriptions, fill study_bio_id column in _IPSC_PHEN, provide values for genetic_dx_by_other and genetic_dx_by_other_method, indicate correct YOB for one subject, provide correct age_months/age_intv_months for 5 subjects. Livia is going on a month long vacation in a few days so it may be a while before she makes another submission. 2023-07-06 JTS: Livia provided consent forms, acknowledgements, study description, and NDA collection numbers via HD4572. Files uploaded here. NDA collection numbers updated. 2023-06-15 JTS: Clone IDs were updated in LIMS, Livia was able to make a new submission. Previous AutoQC#: 63fe2d000f8db. New AutoQC#: 648b5fc630bd8. 2023-03-14 JTS: Confirmed with submitter they can't provide more dx info so their _DX file is best as is. I let them know we are working to update LIMS with the correct IND_IDs for clones, once we get confirmation this has been completed I will let them know they can resubmit. 2023-03-07 JTS: Feedback sent to submitter via HD#4572, awaiting new submission. IPSC clones need to be properly represented in _SUB, _ID, and IPSC submitter form. Also expecting Natasha to follow up with study re GDS certificate. 01-19-2023 AG: Opened HelpDesk tickets 4529 & 4572. Currently looking into discrepancies about older released data and newly submitted data. 11-28-2022 JV: Updated AutoQC number from 632b2995d8ca3 to 637bd61fbe093 21-SEP-2022 BGR: Livia Tomassini submitted an updated AutoQC submission package for study 116, after experience updating study 175's data. Some subjects in study 175 have parents that were recruited under study 116 and not previously released in our collection. Livia was instructed to submit those parent records in the same file as the study 175 children so that pedigree validation could occur within the file. We will review this update to study 116 data in light of previous releases from study 116. GUIDs are included in the latest submission, and we did not previously have NDA submission indicated in the SRTP. Adding checkbox now. 11-feb-2019 BGR - added expected # subjects = 40 based on tara spreadsheet

117 Autism iPSCs for Studying Function and Dysfunction in Human Neural Development Autism, Induced Pluripotent Stem Cells LORING

R33MH087925

728 4

11-Feb-2019 BGR - added expected # subjects = 8 based on tara spreadsheet

119 Attaining and Maintaining Wellness in OCD Obsessive-Compulsive Disorder SIMPSON

R01MH045436, R01MH045404

401, 402 133

2020-04-29, SW: Added signed checklist for OCD release. 11-Feb-2019 BGR - Added expected # subjects = 140 based on Tara spreadsheet Start/End dates retrieved from RePORT For Rutgers

120 RDoC Constructs: Neural Substrates, Heritability, and Relation to Psychopathology Research Domain Criteria ZALD

R01MH098098

500 396

Released in RDoC Dist 1.0 (820 individuals; 396 GUIDs; 396 RUIDs)

121 Depression (RAPID LFMS) Depression IOSIFESCU, PAPAKOSTAS, SANACORA

HHSN2712011000061

754, 755, 756, 757, 758, 759 90

2023-08-15 AG: The ind_ids have been udpated in LIMS and the data patch was applied. (study_121_IND_ID_changes.xlsx) 2023-08-04 AG: Bettina confirmed the 17 ind_id updates. These are being updated in LIMS and we will request a data patch so that curation can perform the N review. 2023-07-28 AG: Met with Bettina, we went over the ind_id changes and clarified a few issues for her. She will double check the ind_ids in her system to check for 5 & 0 swaps for s or S. 2023-07-26 AG: Scheduled meeting with Bettina for Friday 7/28 to discuss ind_id changes. 2023-05-25 AG: Sent the study a list of ind_ids that we would like to change at Sampled - waiting for the study's confirmation. Dr. Iosifescu's email bounced back (dan.iosifescu@mssm.edu). 2022-07-20, SW: Note from Tara (08/2017): For Study 121 we were expecting to receive the diagnosis and the treatment outcomes in addition to the basic information like sex and age. As a clinical trial, they were supposed to submitted their data to NDA clinical trial database, which included questionnaires and an ECG. If they have already put all their data on NDA, they would not be required to resubmit to us, but should provide you with a mapping file of RUID to GUID with basic info of diagnosis, sex, age, so that the NDA data might eventually be incorporated into the searchable options on data explorer through our federation process, though the data access would remain with NDA. 2022-07-20, SW: Note from study 121 in help desk: We did not use GUIDs for this study. We discussed this with the NIMH towards the end of the study, and it was determined that revising the database to include GUIDs was not possible with the remaining budget (Martinson, Max Alexander Uhl). 11-Feb-2019 BGR - added expected # subjects = 90 based on tara spreadsheet For Rutgers 4/2/2018: This study was "affiliated" with Study 149. Clearing up details. -SW ClinicalTrials.gov Identifier: NCT01920555 Study Start Date: December 2014 Primary Completion Date: January 2017 Study Completion Date: February 2017 RePORT Start Date: 10/15/2014 RePORT End Date: 10/14/2015 BioQ End Date: 10/15/2016 ...has same NDA# as Study 149? 2022-07-20, SW: Reason to believe ClinicalTrials.gov Identifier is NCT01654796, with official title of Double-Blind, Proof-of-Concept (POC) Trial of Low Field Magnetic Stimulation (LFMS) Augmentation of Antidepressant Therapy in Treatment-Resistant Depression.

122 Characterization of a Mendelian Form of Psychosis in a Population Isolate Schizophrenia ALMASY, GLAHN, RAVENTOS

R56MH097940

319 215

325 inds released in SZ 20.0 on 15-Feb-2018

123 Acute Psychotherapy for Bipolar II Depression Bipolar Disorder SWARTZ

R01MH084831

432 38

124 Multi-pronged genetic studies of schizophrenia in an inbred population Schizophrenia NIMGAONKAR

R01MH093246

349 760

1-20-2023 AG: There are 2 AutoQC submissions. 5b61d3724be44 has dbGap ID's and 5ae88ddf142bd has sub & phen files. Will need to combine files in next submission. 2022-07-13, SW: Changed AutoQC ID to reflect full package; submission with dbGaP IDs is: 5b61d3724be44. 2022-04-08, RC: Updated AutoQC number to most recent package (5b61d3724be44). Please note there are other packages that exist in the AutoQC that might be more complete/relevant for particular information (e.g., 5ae88ddf142bd). 15-Feb-2019 BGR - updated expected # subjects, samples based on notes in biomaterials section. Added study description from grant reporter. For study 124 we expected recruitment of patients with SZ or schizoaffective disorder (SZA, DSM IV criteria, n = 300), control individuals without psychosis matched by age, gender and socio-economic status to the controls (n = 200), first or second degree relatives of the cases (n = 60). All participants were given: the Arabic version of the Arabic version of the Schedule for Clinical Assessment in Neuropsychiatry (SCAN), a structured diagnostic interview schedule. An Arabic version of the Family Interview for Genetic Studies (FIGS) will be completed for each case and control individual. the Arabic version of the Penn Computerized Neurocognitive Battery (CNB) additional Arabic pen and paper questionnaires designed to test intelligence, attention and memory if needed. 3rd RFD email sent 3/7/2017 Updates: 4/2/2018: Actively working on submission

125 Analysis of Glutamatergic Neurons Derived from Patient Specific iPS Cells Induced Pluripotent Stem Cells LACHMAN

R33MH087840

392, 393 13

15-Feb-2019 BGR - updated expected # subjects, samples based on biomaterials notes

126 Autism (ACE Network) Autism CONSTANTINO, GESCHWIND, KLIN, MOLHOLM

R01MH100027

712, 718, 719, 720 1200

2023-05-03 JTS: Study sent description via email. See attachments below. Sent study final submission checklist 2023-04-05 JTS: As per Marco this is ready to release. Message sent to study to get Study Description. 2023-03-30 jTS: Study made new submission all feedback items appear to have been addressed. Just need Study Description and final checks from curators. 2023-03-23 AG: Update AutoQC from 635163623ba17 to 641b8e592347d. 2023-03-14 JTS: Confirmed with submitter to change NA to ASD_parentreport. Submitter also mentioned they are doing a record review and may have to remove subjects from the submission, so we told them to hold off on submitting again until this has been cleared up. 2023-03-03 JTS: Study made new submission. AutoQC #640167f8dc87e is replacing 635163623ba17. Study changed subject types but did not update _DX file. Following up with submitter. 2023-03-02 JTS: followed up with submitter regarding changing NA diagnosis and changing 9 subjects to Secondary. 2023-02-23 JTS: Sent feedback to submitter re 7 removed subjects and 9 subjects who are listed as primary subjects but have dx_study NA. Once these two items are resolved this should be ready to release. 2023-01-19 AG:Updated Auto QC submission from 632d00ad3647d to 635163623ba17. Submitted Helpdesk ticket 4494, updates were made and waiting on confirmation from Marco about release. An important note regarding confusion in the past: This is a grant for Dr. Geschwind, but the actual data collection was done through Autism Speaks Autism Treatment Network (ATN) site, Dr. Geschwind's lab was not involved in data collection. ATN sites through Autism Speaks were paid to do the data collection. These were done at hospitals across the county (~4 different sites), which all have different requirements and data collection requirements; this prevented Autism Speaks/AGRE (the data coordinating center) from being allowed to have PHI. Therefore, what Vicki has in the database are ID numbers, as the sites that did the data collections and are the only ones with names, DOB, etc. for participants. These sites no longer exist, and Vicki is unable to go back and ask for information. Technically, these sites were meant to generate the GUIDs, but this did not seem to be enforced across the board. One site did generate GUIDs, but the rest of the sites did not have the information they needed to generate GUIDs/did not generate GUIDs, which is why only a handful were submitted to us in the end. 2019-11-21, SW: Sample approval request approved by NIMH on 2019-11-19 with the understanding that we will continue to work towards obtaining GUIDs (_id file) from Study 128. 15-Feb-2019 BGR - added expected # subjects based on grant description; says 600 probands but does not specify expected # of family members. assumed 1 family member per proband, bringing # of subjects/samples up to 1200 Updates: 4/2/2018: Still waiting to hear about the outcome of extension request

127 Target Identification and Validation for Negative Symptoms and Social Cognition in Schizophrenia: A Translational Study Induced Pluripotent Stem Cells, Schizophrenia HAHN

funded by Pfizer via University of Pennsylvania ? Pfizer collaborative alliance

717 8

15-Feb-2019 BGR - updated # subjects, samples based on received/released 8 inds released in iPSC dist 9.0 site 717 start and end estimates based on sample receipt dates

128 A Comprehensive Approach To Identification of Autism Susceptibility Genes Autism GESCHWIND, LAJONCHERE

R01MH081754

713, 714, 715, 716 588

2023-07-20 JTS: Curation team confirmed this study is ready for release. It will be released without the submitted _PUBS file as none of the publications relate to the sites that are actually included in Study 128. Submitter informed and final submission checklist sent. 2023-07-19 JTS: Vicki made new submission at AutoQC #64b8281db0a37. Old AutoQC #6483c9cfeba13. 2023-06-14 JTS: Sent feedback to submitter via email. Curation team fixed "299" issue. Study just needs to confirm not sending replacements for redraw requests, make _PUBS file, and make final submission. 2023-06-09 JTS: New submission made with AutoQC #6483c9cfeba13. Previous AutoQC #636a5d5da49c9. 2023-05-08 JTS Study still working on preparing next submission. Study provided study description via email (uploaded to SRTP). I reminded study to provide consent form. 2023-04-06 JTS: Met with study and clarified DX questions, study provided criteria differentiating Autism, Aspergers, and PDD-NOS. ASD and PDD were used for subjects assessed after introduction of DSM5. NRGR Clinical team will review and provide guidance to study for _DX file. See attached. 2023-03-23 JTS: Study responded to feedback. They are gathering consent forms, do no have age_onset_months, looking into criteria used for each dx. Provided a description but it is too long. Agreed to call to discuss DX info. 2023-03-09 JTS: Feedback sent to submitter via email. Requesting consent form/description, age_onset_months data, some DX items and a call to discuss DX items. 2023-02-17 JTS: Curation team completed review. Missing GUIDs explained in HD#4499. Awaiting response from David Keller re unavailable samples. Acknowledgements file is in Sherri's box drive. Can follow up with study re age_onset_months 2023-01-19 AG: Updated Auto QC submission from 632b82e352736 to 636a5d5da49c9. Submitted Helpdesk tickets 4494 & 4499, corrections were made and currently in the curation queue. 09-19-2022, NLS: The samples from site 204 (which is in Study 64) were collected using funds from R01MH081754 and thus, site 204 should have been part of study 128, but that was discovered in 2022 years after both studies ended. To avoid causing problems in the Sampled's LIMS site 204 will continue to be part of Study 64. Study 128 has the other sites at which sample collection was to supplement R01MH081754. 2022-08023 BGR: In contact with Vicki Litz via HD ticket #4499, provided her with re-formatted and combined "master submission" including sites 713-716 and site 204. I also shared with her a list of RUIDs missing from the combined master submission (n = 164). Prior submission from 2018 contained subjects from sites 713-716, and more recent emailed submission contained sites 202 and 204. Site 202 will remain under study 64 as study of record, even though subjects were "co-recruited" and consented for both 64 and 128. Site 204 must switch from study 64 to study 128 - informed NIMH and DK and need to know how to proceed. An important note regarding confusion in the past: Study 126 has a grant for Dr. Geschwind, but the actual data collection was done through Autism Speaks Autism Treatment Network (ATN) site, Dr. Geschwind's lab was not involved in data collection. ATN sites through Autism Speaks were paid to do the data collection. These were done at hospitals across the county (~4 different sites), which all have different requirements and data collection requirements; this prevented Autism Speaks/AGRE (the data coordinating center) from being allowed to have PHI. Therefore, what Vicki has in the database are ID numbers, as the sites that did the data collections and are the only ones with names, DOB, etc. for participants. These sites no longer exist, and Vicki is unable to go back and ask for information. Technically, these sites were meant to generate the GUIDs, but this did not seem to be enforced across the board. One site did generate GUIDs, but the rest of the sites did not have the information they needed to generate GUIDs/did not generate GUIDs, which is why only a handful were submitted to us in the end. 2020-11-16, SW: SW contacted study to ask if data submitted to ANVIL will be associated with the 528 GUIDs we already received from them; Jenni Lowe was copied into conversation to answer. Waiting on response. 2019-11-21, SW: Sample request approved by NIMH on 2019-11-19 for Study 126 with the understanding that we will continue to work towards obtaining GUIDs (_id file) from Study 128. 15-Feb-2018 BGR - updated expected # subjects based on biomaterial notes "~196 families" assumed family = trio, meaning 588 expected subjects For Rutgers Updates: 4/2/2081: Still waiting to hear about the outcome of requested extension

129 Anorexia Nervosa Genetics Initiative (ANGI Project) Eating Disorders BULIK

Anorexia Nervosa Genetics Initiative (ANGI Project)

403, 404 5657

2022-04-08, RC: Updated AutoQC number to most recent package (604bc5f7e690c). Please note there are other packages that exist in the AutoQC that might be more complete/relevant for particular information (e.g., 603d31e09e8cc) 15JUN2021 BGR: Added dbGaP collection number phs001541.v1.p1 per instructions from Tara Dutka. We will ask for the linking IDs now that we are aware of this collection. Study description: Anorexia Nervosa Genetics Initiative (ANGI) is an international collaboration that recruited individuals with a lifetime history of anorexia nervosa from the United States (US), Australia/New Zealand (ANZ), Sweden (SE), and Denmark (DK). Matched controls, with no history of eating disorders, were also recruited from the US, SE, and DK. Recruitment avenues included national registers (SE, DK); treatment centers (US, ANZ, SE, DK); and social and traditional media (US, ANZ, SE). Participants provided blood samples and clinical information. Diagnoses were based on DSM-IV or ICD-10 criteria (amenorrhea was not required). Genotype data are available for 12,918 participants. *NOTE: Denmark data cannot be shared openly but require prior and individual permission by the data owner: The Head of the National Center for Register Based Research Aarhus, DK. Genotyping of samples from Denmark was completed using the Illumina PsychArray (data not supplied). 2021-03-01, SW: Changed AutoQC UID from 5d77e0966af9a to 603d31e09e8cc. 5-Feb-2019 BGR - updated expected # subjects, samples based on received data submission. No grant to review or notes about original expectations from NIMH. BGR 20-Dec-2018: Notification from Dave Keller about sample/data elimination request for the following subjects: MH0166112, MH0196927, MH0196967, MH0196974, MH0196975, MH0196987, MH0196988, MH0196989, MH0196992, MH0197005, MH0197006, MH0197012. No data has yet been released for this study. Australian site will send samples in 2 batches (at the end of years 2 and 4). Funding from donation. Status = submitted (5a7a136d4494c) ClinicalTrials.gov identifier (NCT number): NCT01916538 Study information taken from CT.gov: Study Type : Observational Actual Enrollment : 22445 participants Observational Model: Case Control Time Perspective: Retrospective Official Title: Anorexia Nervosa Genetics Initiative Study Start Date : June 2013 Primary Completion Date : July 2016 Study Completion Date : July 2016

130 Genomics-Guided Characterization of iPS Cells from Common Mental Illnesses Induced Pluripotent Stem Cells HAGGARTY, PERLIS

R21MH093958, R33MH087896

433, 434 4

15-Feb-2019 BGR - updated expected # subjects based on received and released, no info on sample size in reporter and no origianl expectations recorded from NIMH 4 subjects (13 RUIDs) released in iPSC dist 7.0 on 08-Mar-2017

131 Chemical genomic approaches to neurobiology of DISC1 Bipolar Disorder, Induced Pluripotent Stem Cells, Schizophrenia TSAI

R01MH091115

317, 318 20

15-Feb-2019 BGR - updated expected # subjects/samples based on grant description and received quantities Data released in iPSC collection 2017-06-12

132 NIMH DIRP Protocol 03-M-0035 Screening, Evaluation, Diagnosis, Treatment Optimization and Follow-Up for Childhood Onset Psychiatric Disorders Induced Pluripotent Stem Cells RAPOPORT

1ZIAMH002581

499, 502 228

15-Feb-2019 BGR - Updated expected # samples, subjects based on receipts and release notes 17-Aug-18 BGR: David Panchision confirmed the PI retired and study is complete, listing end date as 31-May-18 as instructed by Linda 05-Mar-2018 BGG: Project start date and end date not listed in Reporter or BioQ. Estimate of 2007 for start date based on history of grant in NIMH reporter. Seems to be renewed every year - unsure of end date, will follow up with Tara. From BioQ: Site 502 data received 1/30/2018, data will be released in iPSC 10 Feb 2018;site 499 Released in iPSC Dist. 3.0; 229 subjects (some with multiple sample IDs) are in iPSC dist 10.0 for this study

133 Biomarker Discovery in Anorexia Nervosa II Eating Disorders BARDONE-CONE, BULIK

R01MH095860

405 420

2023-08-16 AG: Updated the AutoQC from 628916b260d9b to 64dd07b944650. 2023-08-15 AG: Laura sent a destruction letter to Dave for sample MH0168750 (NRGR biomarkers sample request 23.08.01-1.pdf). 2023-01-19 AG: Laura provided publications, blank consent forms, and acknowledgement text, which were added to SRTP. Linda reviewed dx file, there are also 2 missing RUID's that we are waiting to hear back about. 2022-05-25 RC: Updated AutoQC number to reflect the most recent submission. Updated from 6287910c549d8 to 628916b260d9b. 15-Feb-2019 BGR - updated expected # subjects to match expected # samples that was recorded. not sure if this number should be equal... Funding from a donation. Not yet due (5/31/2018).

134 Genetic Study of Trichotillomania Obsessive-Compulsive Disorder KEUTHEN, SCHARF

Funded by the Trichotillomania Learning Center (TLC).

508, 788, 790 419

2023-04-03 AG: Met with Emily and discussed submission file formats. We suggested that she submit the SCID and MINI as 2 different phen files. Some subjects were diagnosed from the SCID and others were diagnosed from the MINI. The study can create a "SS" diagnosis in the _dx file and identify which instrument the subject was diagnosed with and also add in the description that there is a cutoff prior/post 2016 that determined which instrument was used. 2023-01-19 AG: there was a meeting with study on 10/3/22. Waiting for the study to send updated submission addressing remaining issues and samples not yet accounted for. Followed up with study on 1/11/23 and study said they should be submitting mid-Feb. 2022-05-04, SW: Study submitted package successfully. SW looking at package. Only has _sub and _dx file. Need clarification for diagnoses in _dx file. Looking to determine if we need _id file or clinical data (TBD). Added note: 760 subjects released in total by IBX, ~419 released into collection, and 390 submitted in this submission. Site 788 will be submitting ~100 samples over 3-4 years; Site 790 will submit 22 samples over the course of 1 year Future Action: Given date of Site 788 and 790 expected release date 2020, Rutgers will process data;Site 508 released in Trichotillomania Distribution 1.0 under OCD group; Sites 788 & 790 will be released no later than 6/16/2020

135 Multimodal Developmental Neurogenetics of Females with ASD Autism BOOKHEIMER, PELPHREY

R01MH100028

470, 471, 472, 473 900

09-15-23 AG: Met with Zach and went over a few of his questions about the previous submission package (old & mid) and about the use of Linkers. BGR 2023-04-18: Marco did analysis of previous submissions. One from study in May 2019, one from Sherri Wilson Nov 2021. Marco sent results of analysis today. In short, the study's submission was more complete wrt number of RUIDs and subjects, and Sherri's version from 2021 added a lot of linking IDs (but no parental relationships). I cannot find any more context about the submission from Sherri in 2021. There are still 14 subjects/samples missing from the submission package, 12 of which are subjects that were moved from study 41 to study 135 in Sep 2019 at the request of Jenni Lowe. Marco updated file formats and wrote up a summary of what is required. Jake and Linda still need to review the DX information, then we can come up with an outreach plan. BGR 2022-08-17: Reviewed latest submission. Many issues. 10 NULL subject_type in submission. dx_system, dx_confidence, dx_external_support all NULL. 675 NULL dx_study. in _dx file, they define Control and Unaffected Sibling, but never use those dx's in the submission, control definition in _dx file is inadequate - need to describe how control status was determined. 1 missing subject/2 missing samples. Will need to reach out to study. Study Information: Four sites: 470, 471, 472, 473 Contacts- Zachary Jacokes (Zachary.Jacokes@loni.usc.edu), Carinna Torgerson (Carinna.Torgerson@loni.usc.edu) ________________________________________________________________________ Outreach Information: 2022-04-08, RC: Updated AutoQC number to most recent package (5ce33ac03ee29). Please note there are other packages that exist in the AutoQC that might be more complete/relevant for particular information (e.g., 5cdb583df38d1). 2018-07-18: Emailed to ask how submission was coming along/when the study plans to submit. -SW << Trained 7/3/2018! >> 2018-06-19: Email sent to Zachary Jacokes. -SW 2018-06-19: Second email went out. Received response from Dr. Bookheimer-- OOO until 7/2. Jack Keller gave availability for training, but suggested reaching out to Zachary Jacokes who was responsible for submitting data for the whole project to the NIH biannually. -SW 2018-06-11: First email sent. -SW ________________________________________________________________________ Phenotypic Data Submission: Submitting to NDAR. NDAR study ID is 2021. Asked for _sub, _dx, and _id files. ________________________________________________________________________ Release Information: Will be released 6 mos. after last subject's sample has been received by repository. Project end date = 6/30/2017, last sample = 5/4/2017 ________________________________________________________________________ Updates: 2019-02-18 BGR: Added # subjects = 900 based on notes in biomaterials field 2018-11-19: Dave Keller informed us that the study requested elimination of biomaterials for Subject Code KP.UCL.512.03 / RUID MH0166397. The subject did not request elimination of associated phenotypic, clinical, or imaging data. - BGR 2018-07-18: Study had an issue with IDs. Changes were submitted to RUCDR. Study plans to submit by end of August. SW will follow up with study by middle of August. -SW

136 Integrative Molecular and Phenotype Analysis of 22q11.2 Deletion Syndrome 22Q11.2DS, Induced Pluripotent Stem Cells, Research Domain Criteria, Schizophrenia HALLMAYER

R01MH100900

355 65

2023-07-25 AG: Dr. Hallmayer sent a destruction letter for 2 samples (MH0239189, MH0231700) who have withdrew their consent. (Letter_JFH_July25_2023.pdf) 2023-07-13 AG: Updated the training date from 12/20/2017 to 7/13/2023. Met with study and went over submission package. Dr. Hallmayer will try to follow up with Dr. Pasca to obtain the required documents we need (submitter form/written explanation for the publication table). Dr. Hallmayer does not have access to the NDA GUIDs, Sue Cleveland processed them, but he will reach out if he cannot find any documentation on the outstanding GUID issues. Dr. Hallmayer can fill in the dx file with the diagnoses listed in the publications table - through an edx file. We might have to add qualifiers to this file (low confidence diagnosis). 2023-06-21 AG: Dr. Hallmayer confirmed the update to the ind_ids. We will update these at Sampled. (ID_Answers.xlsx) 2023-06-14 BGR: Sent email to Dr. Pasca and Hallmayer laying out specific actions and decisions taken during our earlier meeting. We still need to schedule a training session to determine what we will ask them to submit at a minimum. The curation team is reviewing the NDA files received in Sep 2021 to determine if they can be used to build out a proper _edx file and/or assign psych nimh_dx values. 2023-06-13 JTS: Had meeting with Pasca and Hallymayer regarding clarifying status of samples/data and sharing responsibilities. See meeting notes. 2023-05-03 AG: Dr. Hallmayer confirmed that the "suspected_alt_ind_id" were matches and that 355-Q0030.4 is a typo and we should remove the .4. He also mentioned that the 18 samples from the paper were not recruited through this study (Manuscript_Unassigned.xlsx). Waiting on acknowledgement from David Panchision and confirmation from Dr. Pasca. 2023-04-25 AG: NRGR created a data reconciliation excel sheet that matches up RUIDs/ind_ids already released in DE and Dr. Hallmayer's list of samples sent in (Study136_data_reconciliation_efforts_17APR2023). This was sent to Dr. Hallmayer and Dr. Pasca on 4/17. 4/25-Dr. Hallmayer confirmed that the "suspected_alt_ind_id" column is correct on the "released_ind_ids_try_match page. He also indicated that he was told not to use the numbers labeled "alternate ID" (starting with 10-, 11-, 12..) and that they should not distribute them. Dr. Hallmayer believes that the 18 samples in the "Paper-Supp Tables1-4" page were not recruited through this study, but Dr. Pasca can confirm. We are now waiting for David Panchision's response on the paper and Dr. Pasca's response. 2023-04-11 AG: During the iPSC meeting, David Panchision is looking for 30 unique subjects with 30 successful iPSC lines that are represented in the study's published paper. We also reached out to the study to confirm that their study_dx should be 22q11.2 del. 2023-03-16 BGR: David Panchision heard back from Sergiu Pasca and Joachim Hallmayer that "a number of the iPSC lines did not pass SNP array quality control (i.e., of 70 iPSC lines originally analyzed for differentiation, 40 passed QC), while some also failed repeatedly to reprogram. I agree that it is not useful to bank iPSC lines that don?t pass QC, so this presumably means about 12 additional donor iPSC lines remain to be submitted in order to reach 40 donor lines in total." He looped BGR, AG, and JS into an email thread with study 136 personnel to arrange for submission of the 12 iPSC lines, and the data associated with the rest of the subjects/samples already in storage. 2023-02-23 AG: On the monthly call 2/13, David determined that 136 should be re-prioritized. We should prioritize the IPSC lines first and then the FCL lines. Attached is a list from Jen Moore of the cell lines progress, study_136summary_2023_02_20.xlsx 2023-01-26 BGR: Jen Moore provided a report on the iPSC cell lines received for study 136. IBX "received a total of 27 subjects over various periods of time. 6 have been completed and should be available. 1 subject failed and needs a replacement (355-Q_0310). 1 subject failed once and we have received another replacement (355-Q_0283). 1 subject failed twice and we have received another replacement (355-Q_0387). 1 subject failed twice and we have received 3 replacements, one of which were successful and the other 2 of which are not needed (355-Q_0391). The rest have not been started. I remember discussions with David P. to de-proritize these due to poor performance of the initial attempts. They are on our list?.please let us know if you want us to re-prioritize." We will discuss with NIMH to determine if these lines should be re-prioritized. See file "NIMH 136 SZ Summary_bgr.xlsx" in file attachments. BGR added a column "nrgr_notes" to indicate which subjects are not yet released in Data Explorer for this study. 2022-12-21 BGR: Released partial data in July 2021 before all samples were received. Since then have received ~20 more iPSC lines from this study. Need to revisit what was released vs what we have in storage and send an outreach email to the study describing what is necessary to finish the data submission requirements. BGR asked DK and JM at IBX about the gap between received EPIPSC and EPFCL vs IPSC and FCL. Need that information before outreach. Plan to send instructions to the study in the new year. 2021-02-17, SW: Updated AutoQC submission # from 5b22e551182a6 to 5e18e97b175f4. 2019-04-25, SW: Spoke with Sue Cleveland about Ns not matching. Study submitted 61, but RUCDR has 65. After submission 3 were recruited at UCLA and 1 was recruited at Standford. Sue will submit information for those 4. Also, one more subject is coming in 5/31 and 6/1 to have a sample taken-- Sue will submit for that as well. 2019-03-28 SW: Sue Cleveland said that after the grant ended UCLA brought in two more people, and they are looking to enroll one more. The cells did not grow in the lab so they're trying to replace them, which is why they pushed for more participants. She also mentioned that these people should be enrolled, biopsied, and assessments should be scored by next month. Will follow up in a couple of weeks to make sure everything is still going as planned. 2019-02-18 BGR: Updated subjects field to 60 based on notes below and in biomaterials section. more samples expected than subjects 2nd RFD email sent 5/10/2017 NDA RDoC collection #2605. Should this be RDoC or SZ for disorder? Was set on SZ. For study 136, they are characterizing patients with 22q11DS ? 20 with a diagnosis of psychotic disorder and 20 without - and 20 demographically comparable controls, for a total of 60 subjects. As part of the study they completed a questionnaire, underwent a clinical diagnostic interview, underwent neurocognitive testing, and had a skin biopsy. We expected all clinical information to be submitted within 2 months of subject blood and/or or skin sample collection and submission. The clinical interviews included: Structured Interview for Prodromal Syndromes (SIPS) Junior Schizotypy Schedule for dimensional measures of schizotypal traits. K-SADSPL or the Structured Clinical Interview for DSM-IV (SCID-P), for subjects over 18, Brief Psychiatric Rating Scale (BPRS) Autism Diagnostic Observation Schedule (ADOS-G) and the Autism Diagnostic Interview ? Revised (ADI-R) Social Responsiveness Scale (SRS) Cognitive assessments- All study participants receive a comprehensive neurocognitive battery, which includes assessment of intellectual function (Wechsler IQ scales 31), language, memory, executive functions and attention, and social cognition. Other measures height weight head circumference relevant medical and developmental history (not sure what is included here) There should be RNA-seq and micro-RNA seq data that should be going somewhere, either to us or dbGaP, so get the linking IDs if they exist now. They aren?t registered with dbGaP, but the study has not finished yet (project end date 2018/07/31)? so that may be coming. Get as much individual level data as you can, it seems like they collected a lot, though it might not have been collected for all subjects. This is a fibroblast/iPSC study.

137 Genomics of Schizophrenia in the South African Xhosa (SAXI) Schizophrenia KING, STEIN, SUSSER

U01MH096754-01A1

356 2200

2023-09-05 JTS: As per Dr Andrews, copy coordinator Kim Fader on all 137 communications (Kim.Fader@nyspi.columbia.edu). 2023-08-14 JTS: New submission at AutoQC #64da34d765314. Old AutoQC #6390f1b08f501. 01-19-2023 AG: Updated AutoQC submission from 5f88868d9dc15 to 6390f1b08f501. Also waiting for Howard to resubmit an updated package. 2022-07-20, SW: Updates UID to include submission with sub and dx file; other submissions can be found under study number in AutoQC 2022-07-13, SW: Multiple submissions in AutoQC, some of which only include phen files. 2021-09-09, SW: 5f88868d9dc15 for study submission, 5fa04ca70bc90 for SCID 2020-09-09, SW: Dr. Stein will be responsible for the submission, study submission has been on hold due to an issue at RUCDR with IDs across sites, NIMH is aware of this delay and Dave Keller is following up. 2020-09-08 LAB: Updated study personnel to include Drs. Mary-Claire King and Ezra Susser may request samples from this study. dbGaP accession number was added with study title. As of 7/18/2018, last sample received was 2/21/2018, but NCE ends 12/2018. Release Information: Will be released 6 mos. after last subject's sample has been received by repository.* ______________________________________________________________________ Phenotypic Data: No cost extension finishes in December. At the moment the project is not submitting anywhere else. In addition to the usual submission data, the project should at least be submitting the computerized neurocognitive battery data and the SCID-I. _______________________________________________________________________ Outreach Information: 2022-04-08, RC: Updated AutoQC number to most recent package (5fa0693ccd5da). Please note there are other packages that exist in the AutoQC that might be more complete/relevant for particular information (e.g., 5f88868d9dc15). 2018-06-19: Contacted (PI and those listed below) on 5/31/2018. Was told that Howard would be in touch. Waiting for Howard to reach out. -SW ______________________________________________________________________ Study Information: ~1100 cases, ~1100 controls 2019-02-18 BGR: Populated # subjects field as 2200 based on notes above The main people dealing with the phenotypes are listed below: Howard Andrews- Andrews@nyspi.columbia.edu Ruben Gur- gur@mail.med.upenn.edu Ezra Susser- ess8@cumc.columbia.edu Kim Hendricks- kim.hendricks@uct.ac.za Adele Pretorius- adele.pretorius@uct.ac.za One site: 356

138 Identification of rare variants of OCD Obsessive-Compulsive Disorder NESTADT

R01MH097993-01A1

406 196

2023-07-18 BGR: Dr. Nestadt reached out asking about the pathway for submitting genetic data to dbGaP. We instructed him that there is no special pathway for us to send his data to dbGaP, and he will have to submit it directly to them. We also informed him that he should share the dbGaP collection number(s) and linking IDs associated with the genetic data when they become available, so that we can add them as a linking ID into his data release. AutoQC Submission Number: Old: 5bfec6a569cf5 New: 5e4ec74311098 2019-12-10, SW: Study not considered "complete" until _id file is submitted; currently have enough information to release; possibly complete without clinical instrument data-- confirming with Geetha Study Information: ~160 blood samples 2019-02-18 BGR: updated subjects field based on note above. this is smaller number compared to what is described in the grant abstract, which also discusses adding 800 unrelated ocd cases and 750 matched controls. One site: 406 ________________________________________________________________________ Outreach Information: 2018-06-19: Contact was made via email on 6/15/18. Dr. Nestadt informed SW about extension. Dr. Nestadt was told on 6/19/18 that an extension does not apply to the phenotypic data, and therefore data is still expected by the end of June 2018. -SW 2018-06-26: Project contacted program about the need for an extension to submit the phenotype data. PO (Miri Gitik) approved an extension until October. PI should submit data by 10/31/2018. - TD(NIMH) ________________________________________________________________________ Phenotypic Data: ________________________________________________________________________ Release Information: Will be released 6 mos. after last subject's sample has been received by repository but no later than 6/30/2018.* Study was granted an extension-- expected to submit data by 10/2018.

139 Addition of OCD to the Genomic Psychiatry Cohort Obsessive-Compulsive Disorder PATO

R01MH103657

407, 417, 783, 787, 805, 822, 881 5000

2022-10-27 BGR: Sent detailed update request to study via helpdesk ticket #4136 2022-10-24 BGR: Reviewed AQC submission and attached checklist with summary of preliminary review. Looks like 83 samples/80 subjects are missing from the submission, passing to curators for detailed report of samples in storage vs submitted. Also missing acknowledgement, publications, study description, blank consent form, and need more details about _phen interview data. 2022-10-21 BGR: Received AutoQC submission from Cole Whiteman, will review for completion. Penelope ("Pennie") Georgakopoulos (penelope.georgakopoulos@downstate.edu) has been alternate contact in the past (2020); might have also moved to rutgers 2021/3/9, NLS: This study just was approved by program for another NCE but it does not appear to have gone through for GM yet, they are supposed to be wrapping things up in the next year, total of 3,500 in enrollment. 2020-03-12, SW: SW changed end date from 1/31/2020 to 1/31/2021; PI informed us of NCE. 2019-09-04, SW: Added Dr. Tim Bigdeli as personnel. Dr. Bigdeli was given permission to access Dr. Michele Pato's study information. 2019-05-15 BGR: Per Lora Bingamon, Site 881 (The Emory site) is contracted for no more than 300 samples, but actual enrollment may be less than that. Again, this part of the total planned collection for the study. They will be collecting blood and saliva samples through January 31st, 2020. 2019-04-17 BGR: Notification from Dave Keller than RUID MH0244549 requested to be removed from the study with sample and phenotypic data destroyed. Dave Keller has submitted the request for elimination and the RUID will be moved to the elimination file. 2019-03-19 SW: Janet Sobell no longer works on this study. Replaced with Cole Whiteman. 2019-02-18 BGR: added # subjects = 5000 based on grant description and notes below Added site 822 (Menchon); Added site 805 (Richter); Added site 787 (Nicolini); Added site 783 (PI: Nurmi); Added site 417-Dr. Michele Pato moved to SUNY and Dr. Knowles took over the USC site 407 4/23/2018- Tara Dutka New institutional multi-site certificate submitted by SUNY on behalf of all submitting sites. Dr. Pato's contact information updated to SUNY. SUNY is now institute of record for submitting the data for all samples. From BioQ: Will be released 6 mos. after last subject's sample has been received by repository but no later than 2/1/2020 04/22/2019 (LAB): The NIMH PO confirmed that the project will go into a NCE. The project end date is now 01/31/2020. Updated the project ended in SRTP.

140 Genome Sequencing in Extended Bipolar Pedigrees Bipolar Disorder FREIMER

3R01MH095454-02S1

435, 436 349

2023-06-27 JTS: Nelson Freimer sent confirmation to add Ana as study personnel and May Request Samples. ~1000 BP samples, ~1000 controls 349 subjects released in BP 12.0 on 18-Sep-2017

141 Genetic Analysis of High-Risk Utah Suicide Pedigrees Suicide COON

R01MH099134

315 3339

2020-04-28, SW: RU team will be releasing the suicide distribution, and will include all samples submitted as of this date. Any samples submitted in the near future will fall into the new study, which is not assigned a study number at this time. (479 samples were in the second submission and will be included as well, once processed.) 2020-04-01, SW: Making note that study was awarded a NCE until 5/31/2019. Original due date was 5/31/2018. 2020-01-07, SW: Study 141's initial submission can be found here: 5c41fbed21f1a, Study 141's second submission can be found here: 5d9b84b157921 (this UID is reflected above). 2019-02-18 BGR: Added # subjects = 5100 based on notes below Study Information: ~5100 DNA samples Study is using postmortem DNA, so they are sending in batches rather than continuously. They had 3,814 suicide cases with DNA samples as of their last progress report and anticipated having 4,500 before they applied for the NCE. (8/20/2018, SW) ________________________________________________________________________ Outreach Information: 2018-08-10: SW had training with study. During training it was determined that we should expect a total of 3,821 samples for 5/31/2019 (2,861 we have currently + 480 (5 plates already requested) + 480 (5 more plates to be requested). PI is following up with PO. 2018-07-18: SW reached out to PI again to follow up from last conversation. Explained that data expected to be released no later than 11/30/2018. 2018-07-09: SW emailed to ask if PI returned. PI did not understand what was being requested. SW explained. 2018-06-19: Contact made on 2018-06-16. PI will be OOO until July 9th. Will schedule a time to do a training with her team when she returns (that week). -SW 2018-07-13: Emailed again on 2018-07-09. Asked for a time to train team members. No response as of this date. -SW ________________________________________________________________________ Phenotypic data expectations: Suicide designation from the Utah Office of the Medical Examiner autopsy, gender, age at death, race, method of death, ICD-9 codes approved for this project indicating co-morbid conditions (currently: affective disorders, drug disorders, alcohol disorders, psychoses, self-injury, seizure disorders, inflammatory bowel syndrome, asthma); pedigree cluster ID indicating which pedigree a sample is part of, if any. One site: 315 ________________________________________________________________________ Release Information: Will be released 6 mos. after last subject's sample has been received by repository but no later than 11/30/2018.

142 Psychosis and Affective Research Domains and Intermediate Phenotypes (PARDIP) Research Domain Criteria CLEMENTZ, KESHAVAN, PEARLSON, TAMMINGA

R01MH096913-01A1, R01MH096957-01A1, R01MH096900-01A1, R01MH096942-01A1

496, 497, 498 194

2019-02-18 BGR: Added # of subjects = 405 based on notes below and # samples. sample size not noted in linked grant description 8/8/2018: As of 8/1 submitted. Asked for Acknowledgements and publications. Was told there are no publications at this time. Consent level for study is RELMH at this moment. -SW For Rutgers; ~405 samples; #2126 RDocdb ClinicalTrials.gov Identifier: NCT02218853

143 Modeling Anorexia Nervosa with Human Pluripotent Stem Cells Eating Disorders, Induced Pluripotent Stem Cells MUOTRI

R21MH093954-02

408 8

2019-02-18 BGR: Added expected number of subjects and samples based on notes below, not sure if the fibroblasts and iPSCs are coming from the same or a different set of subjects though. 5 fibroblasts lines; 5 dental pulps; 20 iPSC lines

144 Modeling Autism with Human Pluripotent Cells Autism, Induced Pluripotent Stem Cells MUOTRI

1DP2OD006495

738 17

2019-03-01 BGR: Deleting site 739 per instruction from Geetha 2019-02-18 BGR: Added expected number of samples and subjects based on notes below. I do not know if the fibroblasts and iPSCs will come from a different set of subjects or overlapping subjects 19 fibroblasts lines; 2 dental pulps; 60 iPSC lines

146 Induced Neuronal Cells: A Novel Approach to Study Neuropsychiatric Diseases Autism, Induced Pluripotent Stem Cells WERNIG

R01MH092931

741 8

2022-04-08, RC: Updated AutoQC number to most recent package (5bd968f6018d1). Please note there are other packages that exist in the AutoQC that might be more complete/relevant for particular information (e.g., 5b42c8ce1d57d). 2019-08-19, SW: Study 146 primarily belongs to the iPSC Collection with a secondary linkage to the Autism Collection. For Rutgers Cells will ship ~4/16/2018 and data will be received early May. PHONE 650-721-2495 FAX 650-498-6505 EMAIL wernig@stanford.edu Thomas C. Sudhof PHONE 650-721 1418 FAX 650-498-4585 EMAIL tcs1@stanford.edu The study aims to test the hypothesis that patient fibroblasts can be converted into induced neuronal (iN) cells that can then be used to study cell biological disease phenotypes. We will primarily focus on synaptic transmission as a phenotypic readout. We propose to study about 6 patients affected with autism spectrum disease and respective controls (i.e., about 12 total human subjects to be recruited). Participants in the study will be asked to donate their cells to the NIMH Repository and Genomics Resource (RGR). We have already recruited 7 human subjects and obtained skin fibroblasts from skin punch biopsies (3 patients and 4 controls); 4 biopsies were collected in Boston by a local physician and sent to the Stanford Hospital Cytogenetics lab, Department of Pathology, where the fibroblasts are being derived and banked according to routine clinical practice. Skin biopsies or fibroblast lines: The PI will send source biomaterials including established fibroblast cultures and/or skin biopsies to the Rutgers Cell and DNA Repository (RUCDR) site of the NIMH Repository. Samples will be submitted in accordance to standard operating procedures as directed by RUCDR. The PI will coordinate with the Repository to ensure that cultures derived by the grantee team are expanded in sufficient quantities to ship to the repository. RUCDR personnel will provide procedures and shipping materials including media for submitting the sample and will work with the PI team on any specifically recommended culture conditions. iPSC lines: Note that this project was originally designed to study iN cell reprogramming directly from fibroblasts in the absence of an iPSC derivation step. However, should any iPSC lines be made from a source sample, those will likewise be submitted to the NIMH Repository. In this case, this will include multiple clonal or colony iPSC lines generated from the same subject. (Note: We will not send iN cells since they are postmitotic and thus not a renewable resource. Rather the end-users are expected to follow our protocols to convert fibroblasts into iN cells themselves.) Clinical/Phenotypic Data: We will not obtain a detail clinical assessment. We will rely on the subjects? self reporting of their diagnosis and specific mutation (if known). We will communicate this information to the Washington University site of the NIMH Repository, coincident with the biospecimens deposited at RUCDR under the timeline listed below. No clinical data, just a best estimate diagnosis and demographic data (the standard file and dx file). There should be fibroblast or iPSC derivation data, consult with Mike Sheldon as to what materials are present and discuss with Mike Sheldon and David Panchision whether they have all the data they want so you can make those requests with the phenotype data request.

147 Longitudinal Family/Molecular Genetic Study to Validate Research Domain Criteria Research Domain Criteria FARAONE, GLATT

1R01MH101519-01A1

501 2800

2021/3/1: According to the PI, this study is no longer active and we will not be submitting any additional samples. 2020-05-01, SW: Trained about on March 17th. NDA collection can be found here: https://nda.nih.gov/edit_collection.html?id=2103 Genomic data should be deposited to NDA as well (not dbGaP). As of today, SW made an update to "Submission to Other DBs" to no longer include dbGaP. Study expected to submit _sub, _dx, and _id (NDA) files 2019-06-20, SW: Updated project end date given confirmation of NCE 2019-02-25 BGR: Dave Keller reported the PI contact as Stephen Glatt (stephen.glatt@psychgenelab.com) in spreadsheet of PI emails for CPL notification. We list Faraone as PI... 2018/11/16: Dave Keller notified us of additional revoked consent for samples MH0177826, MH0177828, MH0179861, MH0180695, MH0180696, MH0181257, MH0181256, MH0181255. No data has been released for these samples. 2018/11/12: Dave Keller notified us of a revoked consent for sample MH0179861 via email on Friday 09-Nov "NIMH Elimination request - MH0179861" -- no data has yet been released for this study. - BGR 2018/08/17: Expected to be complete by the end of September 2018. -SW ~2800 subjects. From bioQ: Will be released 6 mos. after the project end date, 3/31/2019.

148 Identifying regulatory mutations that influence neuropsychiatric disease Schizophrenia GOLDSTEIN, PULVER

U01MH105670-01

357, 358, 359 340

2023-08-21 AG: Found a new contact for Dr. Goldstein (davidg@actiobio.com) at Actio BioSciences. 2023-07-25 AG: On the iPSC call, Dave mentioned that he was in contact with Anna Alkelai from the original Study 148. Dr. Goldstein and Anna are affiliated with Columbia as of 2017. Anna may be affiliated with Regeneron as of Feb 2022. 2023-07-19 AG: iPSC study sent an updated submitter form (64b837b5e0061). They made an edit to the last column. (NRGR_Study_148_final_PHEN.csv). This package is Ready for Release. 2023-07-18 AG: iPSC study sent in their submitter form, ack, and study description (64b6e75f274be). I didn't change the AutoQC number above - since the IPSCs will be moving to their own study. 2023-06-28 AG: Adrianna from the iPSC portion of this study mentioned in an email that "The PI that originally collected these samples has also unfortunately since passed." They have gathered all of the information they can for the iPSCs. 2023-05-24 AG: At the monthly meeting it was decided that NIMH will split this study into 2 separate studies (the original lines & the iPSC lines). 2023-05-09 AG: Anna no longer works at the Broad Institute. Received a returned email saying to contact Felecia Cerrato (fcerrato@broadinstitute.org). 2023-05-08 AG: Updated AutoQC from 5d813d1aef2ea to 6453d20f34c8c. Marco updated package to latest versions. I sent out feedback to Dr. Goldstein, still missing dbGaP Ids. Marco also udpated the iPSC form for the McLean/Levy lines (AutoQC: 645407550bdcf) on 5/4/23. We will send out feedback for the iPSC lines to Anna Neumann (neumann@broadinstitute.org). 2023-04-12 AG: There are currently 2 studies combined in study 148. The original study is with PI Dr. Pulver (Retired) and Dr. Goldstein. The iPSC study with CPLs is with PI Deborah Levy (deceased).These cells have a consent level of GRU. The secondary study is also with Ralda Nehme, that created iPSCs from study 148?s source cells. Ralda Nehme and Anna Neumann (project manager) collaborated with the PI from study 148 and derived 220 iPSCs. They will need to submit linking IDs to the WGS. An addendum was also added to the sharing plan submitted to NIMH and approved on 8/29/2017. On 1/20/22 the secondary study planned to ship 44 lines to IBX. (44 lines x 2 samples per line = 88 sample tubes) Dr. Goldstein provided a letter of release of the original samples, which was sufficient information to release demographic information to Anna before shipping the IPSC samples. An iPSC submitter form was generated for the secondary lines and should be complete. (NRGR_LevyiPSC_submitter_form_FINAL_2022-0531_phen) Study 148?s original lines still need updates with the dx file and dbGaP linking ID?s. We will reach out to Dr. Goldstein for more information. 2022-09-28, NLS: Deborah Levy is deceased. Ann Pulver might be retired, but it is hard to tell. 2022-04-11 RC: Added updated AutoQC number, as it was missing. 2019-02-25: Dave Keller reported the PI contact as dlevy@mclean.harvard.edu (Deborah Levy), we do not have her listed as a main PI for this study only a site PI. 2019-02-18 BGR: added expected # subjects based on notes below Study Information: ~340 subjects From BioQ: "Due 3 mos. after last subject's sample has been received by repository but no later than 11/30/2018" Sites: 357, 358, 359 ________________________________________________________________________Outreach Information: 2018-07-18: SW emailed PI to ask if her questions were resolved. (Internal note: SW will reach out to other sites-- site 359-- to ask about phenotypic data for submitted samples). 2018-07-10: PI was confused about consents and what can be shared. TD followed up on this. 2018-06-19: Outreach attempts on 5/31 and 6/14. No response. -SW 2018-07-13: Response received on 7/10, PI asked a question related to consent/sharing. Referred to Program. -SW ________________________________________________________________________ Phenotypic Data Submission: Clinical/Phenotypic Data: Phenotype data will be submitted for all biospecimens and data files submitted to RUCDR, dbGaP, or NDAR. Because the phenotypic data will differ between study sites, phenotypic data that will be submitted will at a minimum include sex, age, race, diagnosis, and pedigree information for trios. Additional information may include family history, age of onset, and developmental, social, or learning problems. Diagnosis information ascertained for the Duke cohort include the following classifications: Bipolar Disorder, Schizophrenia/Schizoaffective Disorder, Autism or ASD, Epilepsy/Seizure Disorder, Depression (medicated), ADHD, Mental Retardation/Intellectual Disability, Obsessive Compulsive Disorder, Tourette's Syndrome. ________________________________________________________________________ Release Information: Due 3 mos. after last subject's sample has been received by repository but no later than 11/30/2018.

149 Rapidly-Acting Treatments for Treatment-Resistant Depression (RAPID) Depression CUSIN, FAVA, IOSIFESCU, SANACORA

HHSN271201100006I

760, 761, 762, 763, 764, 765 100

2019-10-07, SW: Added AutoQC number (above) for package submitted by curator. This was originally an emailed submission. 2019-02-18 BGR: Added expected number of subjects based on expected # samples, and enrollment of 99 participants described at clinical trials page referenced below For Rutgers Clinical Trial ID: NCT01920555

150 A study of Schizophrenia Schizophrenia EVANS, FARRELL, JOSIASSEN, SHAUGHNESSY, SULLIVAN

none

354 1000

2023-07-19 JTS: We have been working with Dr. Farrell to make an _EDX file. Dr. Farrell provided a file with numerous DSM/ICD9/ICD10 codes (including medical codes). Marco extracted these I went through to clean up the dx_systems/codes/definitions. I put all of our recommendations together, sent to Farrell for approval. 2023-03-01 JTS: Sent complete feedback to submitter with updated _DX and _SUB file and instructions for _EDX file (also requested acknowledgments, consent form, and study description). 2022-09-15, SW: Added email correspondence with Marty discussing diagnoses. 2021-12-07, SW: Recent submission note from study: "Also, there is some complication with some samples ? a prior study led by Drs Sullivan and Josiassen collected samples from this same population. In some instances, it was not possible to obtain a new sample. In these cases, we went back to the old study samples at RUCDR to get a specimen. So, to summarize, this upload is for new samples collected during this project, but not necessarily all of the samples we analyzed. For instance, during the upload QC, there was a sample that had a MH0 repository number, but we had a new study ID, but the repository already had the same MH0 associated with an old ID. Thus, I just deleted that sample from this submission (as the repository already has info on the sample)." Diagnosis information: Briefly, 510 patients with TRS were recruited according to the following inclusion criteria: 1) ability and willingness to give informed consent (or consent of a legal guardian); 2) age ?18 years; 3) a diagnosis of schizophrenia, schizoaffective disorder, bipolar I disorder with psychosis, major depression with psychosis, or psychotic disorder (NOS); 4) continuous psychiatric hospitalization spanning ?5 years (with any discharge during this time lasting less than one month); 5) documented adherence to treatment with at least three different classes of antipsychotic drugs (APDs) of adequate dose and duration. Exclusion criteria were: 1) a psychotic disorder associated with substance dependence; 2) a medical condition known to cause psychotic symptoms; 3) sustained antipsychotic treatment response. Each participant met study criteria for TRS (? 3 adequate APD trials), though a few exceptions were made for cases whose antipsychotic treatment histories could not be verified, but who had extensive histories of prolonged inpatient treatment. We had access to medical records and electronic pharmacy records which allowed us to document and verify the severe status of these individuals. Indeed, our attrition rate was around 22%, as there are around 650 cases that we recruited, and ~140 of them didn?t meet our criteria after review of their records and other data. 2019-05-30, SW: Marty Farrell notified the NIMH about sample submission plans over the next few years. It is estimated that over the next 2 years, they will have a total of 30 additional samples for this study. 2019-02-18 BGR: updated expected # subjects to match expected # samples 2017-09-13: increased samples to 1000 and release date to 2019-07-01 Partial phenotype data received from Auto-QC: #58ece32254754 and #58aca0ccb57cc, project ongoing,still submitting samples. Will be released no later to the public than 2019-07-01 Rutgers WILL DO 2019-05-07 LAB: NIMH has agreed take the additional 30 samples the PIs plan to send over the next 2 years. Updated project end date to reflect this change.

151 Predictors and Mechanisms of Conversion to Psychosis Research Domain Criteria, Schizophrenia ADDINGTON, CANNON, CORNBLATT, MATHALON

2R01MH081902-06A1

486, 487, 488, 489, 490, 491, 492, 493, 494 711

2021-03-02, SW: Site only has 711 samples-- will request for the rest to be destroy. See email attached. 2021-03-01, SW: Added submission UID (60381f17c0024) 2021/2/24, NLS: According to the PO, the PIs: Addington, Cannon, etc.) have been given until the end of February to upload all of their samples. It is the PO's understanding that most of their recruitment goals were met so she would anticipate the number of samples to be close to what is expected. 2019-04-22, SW: A note from Jenna Barbee via email: "I anticipate that we will collect between 140 and 215 additional samples at scheduled visits with the NAPLS 3 cohort from now until the end of the study. The latest scheduled blood draw is scheduled to occur in December 2019 or January 2020 (12 months after the last subject was enrolled). This number does not account for samples that were sent to RUCDR between 3/30/2019 and 4/22/2019. Please note that this estimation also does not account for subjects who may convert during this time. If a subject is found to convert, sites are to have them come in for an additional conversion blood draw. My understanding is that we are following subjects past January 2020, so a conversion blood draw could occur later in the year in 2020 (I don?t have as much knowledge about this ? please correct me if I am wrong!). The total number of samples will be less than 3,240 samples. The total number of NAPLS 3 subjects who will have provided samples will be greater than 540. I can provide more specifics if needed. I will review these figures with Diana and we will let you know of any changes she thinks should be made to these estimates." *When asked if would it be OK to say that we expect no more than 2,381 samples (2,166 samples we currently have + 215 additional samples), Jenna stated, "To the best of my knowledge, yes, that would be an accurate estimate of the expected number of scheduled blood draws. I would like Diana to take a look at it to make sure it aligns with her overall expectations. The conversion visit would be considered an unscheduled visit, so any conversion/unscheduled visits that occur could drive that number up. It is likely that Diana may also have an idea of how many unscheduled visits we can expect. I will check with her to see if she can estimate that for you." 2019-04-16, SW: SW in touch with PI. PI stated that study should be finished sending samples by July of 2019. Need Dr. Diana Perkins to confirm this information and the expected number of samples. Waiting for word from Dr. Perkins. SW changed end date from 6/20/2019 to 2/1/2020 on 10/22/18. The data sharing spreadsheet given to our team form TD states Study 151's end date is 2/1/2020. -SW NAPLS3 is multiple R01s. Grants are MH081984; R01MH081944; R01MH081902; R01MH081857; R01MH076989; R01MH081928; R01MH081988; R01MH082022; R01MH082004;They are only collecting 540 subjects, however this is a longitudinal biomarker study with collections at baseline, 2, 4, 6,8, and 12 months. So, the total number of collections expected to be sent are ~ 3240. (8/07/2018, SW) 540 samples From BioQ: Will be released at time of publication or within 3 mos. of the project's end (2/1/2020), whichever comes first. RDoCdb Collection 2275 per JR 04/26/2019 LAB: PO confirmed that the project will go into a 1-year NCE on 07/01/2019. This would make the end date 06/30/2020. Updated SRTP with new project end date.

152 Control and Reward Circuits as Targets for Repetitive Thoughts and Behaviors Obsessive-Compulsive Disorder MARSH

R01MH104648-01

409 66

2019-02-18 BGR: Updated expected # subjects, cases based on notes below Study Information: 40 samples; 40 matched controls; 80 samples total One site: 409 ________________________________________________________________________ Data Expected: Demographic information (age, gender, race-ethnicity), diagnostic data and clinical ratings of OCD and Depression will be provided (i.e., Structured Clinical Interview for the DSM [SCID], Yale Brown Obsessive Compulsive Scales [Y-BOCS], and Hamilton Depression Scale [HAM-D]). ________________________________________________________________________Outreach Information: Submitted: 8/9/2018 (AutoQC#: 5b6c4a3625095) Please note: SW marked study as "trained" on 2018-07-18. Page is submitting for this study and for another study, and she has already been trained on the process. Submission expectations have already been shared with Page. 2018-06-19: In touch with Study. Page VanMeter will be doing the submission. She has been trained for a previous study. On 6/19 details of what is expected were sent to Page, and it was confirmed that it was possible to prove this (above). Page requested data dictionaries. -SW ________________________________________________________________________ Release Information: Will be released 6 mos. after the end of the grant, 2/28/2019

154 FAST MAS KOR Phase 2a Research Domain Criteria LISANBY, NURNBERGER, SANACORA

HHSN2712011000061

410, 411, 412, 413, 414, 415 78

Submitted via AutoQC and NDA files sent separately -- 5b48e084e5dee, N:Brzustowicz LabNRGR_internal_shareSUBMISSIONSstudy154. Hongqiu Yang was contact person. Clinical Trials #: NCT02218736, but also associated with NDA C# 2277 (above) Don't see 2277 in RDoC db, but in Clinical Trials db. Not sure why it was recorded as RDoC for disorder?.

155 Gene Networks Influencing Psychotic Dysconnectivity in African Americans Schizophrenia GLAHN

R01MH106324-01

360 750

2023-06-26 AG: Dr. Glahn has moved from Yale to Boston Children's and doesn't have any staff onsite. He has to physically go to Hartford, CT to get the data and feedback we requested. He hopes to make the trip at some point this summer. 2023-02-16 AG: Updated AutoQC submission from 612fe83dc26d7 to 63e68dab860fe, to reflect the changes Marco made to the submission package. The study can use that as a starting point for future changes. 2021/2/26, NLS: Grant currently in NCE and has completed recruitment PI has reached 90% of recruitment and will probably be not able to complete all in the time left and the pandemic delay. 2020-11-13, SW: Trained study, study noted NCE until end of this month. Study submitting for another NCE to end next year. Study is assigning an RA to be responsible for the submission, and will train again with SW in the near future. Current end date updated in SRTP, but no additional NCE confirmed at this moment. 2019-04-16, SW: SW reached out to study, study is actively recruiting patients and will likely be doing so until at least the end date. Study reported that internal numbers are higher than 467, but this might be due to newest samples not being accounted for (perhaps anything sent in April?). 2019-02-18 BGR: Updated expected # subjects based on grant text and notes below 750 blood samples

156 Transferred from Coriell Collection Bipolar Disorder, Schizophrenia GERSHON

735, 736 2000

2023-04-20 JTS: Our internal team will review what is available on ZORK and try to come up with something suitable for release. There is no obvious way to tie samples to the data. 2019-02-25 BGR: Confirmed with Tara we should expect 2000 samples. Confirmed with Dave Keller that we did receive "Yes, I know about these. We do have them in house. I?ll need to get feedback regarding the status of their associated validation, as I believe there were some problems with this aspect at the time of receipt. The other main challenge was not knowing which of the received samples belonged to which collection: bipolar (site 735) or schizophrenia (site 736). There appear to be about 2,014 unique RUIDs associated with this." Linda forwarded some emails from John, Lingwei to Drs DeLisi and Gershon, suggests there is data somewhere on Zork. We need to follow up. ~2,000 individuals; ~500 families

157 Neuroinflammation and Aggression (RDoC) Research Domain Criteria COCCARO

1R01MH104673-01

503 150

2023-08-30 AG: Met with Josh Cermak to go over the training slides. Updated training date from 9/23/22 to 8/30/23. 2022-10-03, SW: uploaded checklist. Study expected to submit minimum of sub, dx, id (for additional samples); Josh is study contact (joshua.cermak@osumc.edu) and will be submitting package to us. At time of training, Josh was new to project and could not confirm if there will be a submission to another database or if we're expecting assessment/item-level data (neither is noted in SRTP). 2022-09-23, SW: SW updated training date from 2021-08-12 to 2022-09-23. Trained with a new member of the team (Josh) who is expected to submit data. 2020-05-17, SW: PI changed institutions; new email is: emil.coccaro@osumc.edu 2021/3/12, NLS: This study is inactive and will not send any more samples. 2021-03-08, SW: PI now at Ohio State; new email: emil.coccaro@osumc.edu 2019-02-18 BGR: Updated expected # subjects based on notes below 150 samples 2019-04-22 LAB: NIMH Progam Officer confirmed on 2019-04-11 that Dr. Coccaro's study will go into a NCE. This would make the project end date 2020-07-31. The project end date has been updated in SRTP.

158 Modeling schizophrenia using iPSC neurons Induced Pluripotent Stem Cells BRENNAND

Supported by private funds

361 11

2019-02-19 BGR - updated expected # subjects, samples based on Tara spreadsheet. Used to say expected 50 samples but this is contradicted by notes below and tara spreadsheet from may 2018. 14 iPSC lines 11 inds with 13 RUIDs released in iPSC dist 5.0 start date is a total guess, end date is based on last sample received date

159 A chimeric brain model to study human neurological diseases Autism, Induced Pluripotent Stem Cells MUOTRI

1R21MH10777-01

742 6

For Rutgers 2019-08-19, SW: Study 159 primarily belongs to the iPSC Collection with a secondary linkage to the Autism Collection.

160 Contrasting causal microRNAs in forebrain and midbrain COS hiPSC neural cells Induced Pluripotent Stem Cells BRENNAND

5R01MH101454-02

504 22

10-aug-2021 BGR: 11 additional subjects released into iPSC versions 10.2 and 11.0 on 28-Jul-2021 Study Information: Released in iPSC Dist. 6.0 (1/25/2017) One site: 504; 11 subjects ___________________________________________________________________ Outreach Information: 2018-07-17: Training on 6/25 was not an official training. Need to get demographic information from Study 132. Emailed Study 132 and in touch. On 7/16 asked Study 160 PI to supply IDs used from Study 132. 2018-06-19: Training scheduled for 6/25 at 4:00 pm. -SW ________________________________________________________________________ Phenotypic Data Submission: From DSP: "In order to associate these samples with de-identified fibroblasts and clinical data independently submitted by the Rapoport lab, these particular COS iPSC lines will be labeled with the RUCDR site number followed by the de-identified code (?NSB number?) that the Rapoport lab provided us for each sample. Where more than one iPSC line per patient is submitted, we will place an additional digit/character to the code to distinguish them? We need this code (mentioned above) and demographic information. iPSC study that is using fibroblast from other studies. We expected 2-3 replicate lines/subject for 21 subjects (i.e., 21 subject-lines), so approximately 50 biospecimens total, linked to study 132. Only expecting iPSC data and the data to link these samples back to the original study data (Study 132). Generated these from Fibroblasts they stored on site so linking is the key. *Study 132 has phenotypic data- SW in contact* PI alternate email: kristen.brennand@yale.edu

161 iPSC-derived human cortical interneurons as developmental model of Schizophrenia Induced Pluripotent Stem Cells, Schizophrenia CHUNG

1 R01 MH107884-01

362, 363, 807 6

2023-08-22 AG: On the iPSC call, it was determined that we can try one more time to get successful lines. If the new lines are not successful, we can stop at this point. For the 1 subject who cannot be traced back to study 132 - we can try to see if they minimal subject data and we can release the line with what they have. 2023-08-08 BGR: Updated the file with Linking ID attempts to take Jen Moore's updates into account. We need to plan outreach to the study but want to confirm with NIMH if they want us to request additional vials and attempt to generate iPSCs. 7/14 subjects provided now have a successful line, 5 of those required shipment of additional sample from separate freeze lot. 2023-07-25 AG: iPSC improvement call- the 5 replacement lines that were sent in January 2022 are complete and look good (MH0288323, MH0288324, MH0288325, MH0288326, MH0288327). 2022-01-25 BGR: uploading study161_linking_id_attempt_bgr_04MAY2022 to the file attachments section. The study submitted 2 sets of iPSC lines generated from source cells obtained from (1) NRGR Study132 Judy Rappoport fibroblasts and (2) Weinberger/Lieber fibroblasts that are not already banked with NRGR. For the lines with source cells from study 132, the study will need to submit linking IDs and submit information in the iPSC_submitter_form_phen_dd. For lines with source cells from Weinberger/Lieber, the study will be treated as the originating study and will need to submit both iPSC_submitter_form_phen_dd data and the standard _sub, _dx, _id information. Only 2 out of 14 lines were successful at IBX; the rest did not retain pluripotency. 5 replacement lines were received in Jan 2022 - we need to confirm if they were successful with IBX staff. 1 of the 2 successful lines does not have a clear source cell in our set of study 132 lines based on IDs, and has no matching SNPTrace hits, either. ----------------------------- McLean Hospital will be submitting the samples for Lieber Institute New email: schung8@nymc.edu 2021/2/25 NLS: No anticipated delays.

162 Bipolar-Schizophrenia Network for Intermediate Phenotypes 2 (BSNIP2) Bipolar Disorder, Schizophrenia TAMMINGA

2R01MH077851-05A1

364, 365, 366, 367, 368 3600

2023-08-07 AG: Met with Dr. Tamminga & Vishal. We went over the feedback documents and the study is going to reach out to their PO to try to get funding for a data submission position. As of right now Vishal & Dr. Tamminga will meet to work out how/if Vishal can work this into his schedule. 2023-08-01 JTS: Dr. Tamminga was a no show for meeting to discuss submission expectations. We'll try to reschedule. 2023-06-15 BGR: Feedback for most recent submission was sent on 31-Oct-2022 via helpdesk ticket 4546. Vishal Takkar said he would review and send an updated submission. ~monthly follow up from our team, and eventually he told us to expect the submission in May 2023. We did not receive the submission in May, so we followed up in June. Vishal asked some follow-up questions, we responded, and then Dr. Tamminga replied that they do not have the resources to address our questions and remedy missing data. This is not acceptable, so we escalated to NIMH including the PO for this study today. 2022-10-27 BGR: Received submission from Vishal Thakkar 63599332c86c5. Reviewing for completion. 2021/12/08, NLS: According to the PO: The PI the blood/DNA collection didn?t match the RMR targets for BSNIP2. Apparently, one site inadvertently stopped drawing bloods in their volunteers for 2 years, but they eventually got back on track. Also, they have many volunteers refuse blood draws ?regularly,? and consented participants reported in RMR didn?t always make it completing the study (many were ineligible due to exclusionary factors). The PI said there were only N=1481 samples for DNA and N=1212 samples for lymphocytes. The PO doesn't think we are going to be able to get any further data from the BSNIP2 group. 2021-03-09, SW: After outreach, Dr. Tamminga stated, "I just requested from our Program office, Andrea Wijtenburg, that she would grant us another year before we make our BSNIP2 material public. I believe that this would include the NRGR as well. We have not yet fully analyzed and published our finding, but we are not far away." Waiting for confirmation. 2021/2/24 NLS: According to the PO, 2 sites of the 5 that are serial underperformers (only met 50-60% of recruitment goal) prior to the pandemic. The PO expects that the study will be submitting less than the expected 3600 samples. She thinks it will be more like ~3000 samples. 2020-05-20 (LAB): Confirmed with NIMH PO that the grant is in a NCE. The project end date is 03/31/2021. Updated Project End date to reflect this date. 2019-06-26: SW reached out to study regarding submission expectations. SW asked, "I see that we expect 3,600 subjects/samples, and we currently have 899 samples. Do you foresee collecting the full 3,600 samples by your end date? Is there a chance that recruitment or expectations have changed?" Dr. Tamminga replied by stating, "I checked on the plasma samples that I have received and am in the ball park of what you have. We are still collecting. Please keep in touch."

163 Neuropsychiatric Genome-Scale and RDoC Individualized Domains (N-GRID) Induced Pluripotent Stem Cells KOHANE, PERLIS

5P50MH106933

416 134

BGR 09/29/2020: Per Tara Dutka on 09/22/2020, this study does not hae data at NDA or dbGaP 133 subjects released in iPSC distribution 7.0 2019-02-18 BGR: I have no way of knowing what the expectations for number of subjects and samples were for this study, I only can see what was received and released

164 The Autism Biomarkers Consortium for Clinical Trials (ABC-CT) Autism MCPARTLAND

1U19MH108206-01

474, 475, 476, 477, 478 600

2023-01-19 AG: Updated Auto QC submission from 5efe0df5ad570 to 63039f80eb68f. Ready for Release. 2022-08-11 BGR: Emailed laura.simone@yale.edu (AQC submitter email) with requests to update all subjects to have non-NULL dx_study values. They likely need to add a definition/description for "unaffected" subjects in the _dx file to do so. 2021/3/1 NLS: The study is complete, and no additional samples will be collected or submitted. According to the PI, Jamie McPartlan, the study has been renewed, and samples will be collected in the coming years, but he believes these will, however, be designated as a separate collection. 2019-04-30 LAB: Added Deliverable 1 (Whole Blood) information provided by the PI data sharing plan. 2019-04-22 LAB: The NIMH Program Officer confirmed that Dr. McPartland's study will go into a NCE on 2019-04-11. The project end date is now 2020-06-31. Updated the project end date in SRTP. BGR 22-Oct-18 - unclear sample size. Assuming 200 trios are expected, ie 600 samples and subjects, based upon description and received # of samples. from bioQ: Will be released 3 mos. after the end of the project period, 9/30/2019. NDA C2288.

165 Neural development of human induced pluripotent stem cells from schizophrenia patients Induced Pluripotent Stem Cells, Schizophrenia SONG

R21/R33MH087874

369 4

2019-02-19 BGR - updated # expected subjects, samples from 13, 13 to 5, 18 based on Tara spreadsheet from May 2018. Fibroblasts and iPSCs (13 samples) 11/12/2018: PI is now at UPenn. shongjun@pennmedicine.upenn.edu is PI email, and Kim is the contact: kchristi@pennmedicine.upenn.edu. -SW Information from the study: 2/22/19: We have data on four lines, but nine samples. The lines that are data are said to be isogenic lines and therefore all of this information is the same. The D2, D3, C1, and C2 descriptors are the Donor IDs and the subsequent numbers are the clonal lines and whether it was gene edited. For example "369-D3-2" is one line from our D3 donor with the DISC1 mutation. "369-D3-2-6R" is a line from the same donor individual in which we rescued the mutation (indicated by "R"). The "M" lines are the control lines in which we introduced the mutation. In other words, D2, D3, C1, and C3 refer to the 4 different donors and the study submitted multiple lines for some of them. Please reference email from Kimberly Christian for further clarification. -SW

166 Juvenile Onset Schizophrenia iPSCs Induced Pluripotent Stem Cells, Schizophrenia FINDLING, MILLER, TESAR

R21/R33MH087877

370 13

2021-03-10, SW: PI emailed submission, RU curation team ran through AutoQC: 6048eae5213b7 19-Mar-2019 BGR - Moved 2016-02-16 date from released to data due date, we have not yet released this data Not yet trained as of 4/16/18 For Rutgers Robert Miller PHONE 202-994-6988 FAX (216) 368-4650 EMAIL rhm3@gwu.edu Robert Findling PHONE 410.614.3225 EMAIL RFindli1@jhmi.edu Paul Tesar PHONE 216-368-6225 FAX 216-368-0491 EMAIL paul.tesar@case.edu Summary of Project: The goal of our project was to develop a cell-based system whereby neural cells from afflicted individuals could be functionally assayed to interrogate the molecular mechanisms underlying juvenile-onset schizophrenia. Led by Dr. Robert Findling and colleagues, we have collected skin biopsies from 14 juvenile onset schizophrenia patients and controls for induced pluripotent stem cell (iPSC) line generation, which will be submitted immediately. Our clinical colleagues have a recruitment protocol in place for the possibility of acquiring additional biospecimens through March 1, 2017, which would be submitted as a ?second site? ? this will be negotiated with NIMH Program at a later date as an addendum to this Sharing Plan. Established source cell lines for iPSC reprogramming (e.g., fibroblast cell lines): ? Sample type: skin fibroblast cell lines from juvenile onset schizophrenia patients and controls ? Sample number: 14 (8 patients, 6 controls) ? Collection site(s): University Hospitals Case Medical Center, Case Western Reserve University ? Submission start date: 2/1/2016 ? Submission end date: 4/1/2016 ? Submission frequency: 1-2 submissions ? Disposition: each fibroblast line will be sent in 1-2 cryovial(s) using shipping kits provided or recommended by RUCDR. PI is not requesting any cells in kind. Immediate Reprogrammed cell lines (e.g., iPSCs, iNSC, iGPC, iOPC): ? Sample type: iPSC ? Sample number: 5 patients + 4 controls x 1 replicate lines/subject = 9 total iPSC lines ? Reprogramming site(s): Case Western Reserve University ? QC data: each iPSC line will be sent in 1-2 cryovial(s) using shipping kits provided or recommended by RUCDR. PI is not requesting any cells in kind. The iPSC lines will be accompanied by relevant culture information to inform the use of cells (e.g., reprogramming factors, vectors, media, passage number); this will be entered into a form supplied by RUCDR. ? Submission start date: 2/1/2016 ? Submission end date: 4/1/2016 ? Submission frequency: 1-2 submissions Immediate Clinical assessments and Phenotypic data (specify types): ? Data type: Demographic information (gender, ethnicity, age at time of assessment), relevant medical history such as medications at time of biopsy, and CGS score. ? Submission start date: 2/1/2016 ? Submission end date: 4/1/2016 ? Submission frequency: Single submission Released with associated biospecimens. Sequence data (e.g., DNA sequence alignments to a reference sequence or de novo assembly, RNA: ? Data type: Genotyping ? Sample number: 9 SNP (5 cases, 4 controls); 9 exome (5 cases, 4 controls) ? Platform: Illumina Omni5 SNP, Illumin Exome ? Performance site(s): Case Western ? File formats: processed genotypes, fastq ? Submission start date: 2/1/2016 ? Submission end date: 2/1/2017 ? Submission frequency: After data cleaning and quality control, data will be submitted at 6 month intervals. Released according to NIMH Genomic Data Sharing Policy. This is an iPSC study. They should have submitted the clinical assessments listed (Demographic information (gender, ethnicity, age at time of assessment), relevant medical history such as medications at time of biopsy, and CGS score) and a best estimate diagnosis. So that is the two standard submission files. They have genotype and exome data which should have gone to dbGaP. If it did, we need the accession number and linking IDs, if it hasn't been submitted to dbGaP yet they are out of compliance with GDS, so we need to know that too. Consult with Mike Sheldon as to what materials are present and discuss with Mike Sheldon and David Panchision whether they have all the data they want so you can make those requests with the phenotype data request.

167 Biomarker Assessment of Pomaglumetad on Glutamate Targets: Proof of Clinical Mechanism of Action (POCM) Controls LIEBERMAN

HHSN271201200007I, HHSN27100003

793, 794, 795, 796 91

Released into controls v9.0 with 91 subjects/samples 29-Jul-2020 As of 8/8/2018, submitted to NDA. Submitted via AutoQC on 5/22/18. -SW Schizophrenia study, but clinical trials involving controls.

168 Mapping the Human Connectome During Typical Aging Brain Function ANCES, BOOKHEIMER, SALAT, TERPSTRA, VAN ESSEN

U01 AG052564

797, 798, 799, 800 1500

2023-06-06 JTS: Adding Angela Oliver as Senior Personnel and "May Request Samples" as per HD#4758 from Dr. Van Essen. Removing Cynthia Hernke as per the same ticket, preserving her contact information below just in case: Cynthia Hernke, Senior Personnel hernkec@wustl.edu 314-362-3775 Washington University 2023-04-04: Study informed data is ready for release. 2023-03-23 AG: Updated AutoQC from 63f7e2a9b8f52 to 641b776896b7f. 2023-03-17 JTS: Study attempting to resubmit. Updated _DX file, informed no specific screening tool was used. Stated subjects have not been removed from NDA because reported data cannot be withdrawn. Confirmed unavailable samples are expected. Confirmed 40 subjects do not have Connectome IDs. They added 38 subjects with extra RUIDs to sub file, but it got caught in AutoQC for having having duplicate IND_IDs. I informed to use alt_id file. They should be able to get through AutoQC now. 2023-03-09 JTS: Sent submission feedback to submitter via email. Requesting small DX description updates, inclusion of 38 missing subjects. 2023-02-24 JTS: study made new data submission. Updating AutoQC# from 62321eb2e29d7 to 63f7e2a9b8f52. 2023-01-24 BGR: Adding Beau Ances as Co-PI after a biosample submission request from his group. Confirmed he is listed as Co-PI in NIH Reporter for grant U01 AG052564. Note that Sandy Curtiss is still working on completing the submission for study 168 so the samples are on hold until the submission is complete. 2022/03/16, SW: Study submitted data package 2021/6/25, NLS: Currently, there is a small amount of SNP data (i.e., analysis of 8 SNPs) that will or has gone to the Connectome database. Other than that this study does not have any funding for genetic analysis. They had hoped to propose and secure funding to do further genetic analysis via a future grant. Since they haven't, I deleted the deliverable for genetic data. 2021/2/24, NLS: Between now and the end of summer, the study expects to send at most a few 10s of samples for HCP-A. 2020-11-04, SW: Study reports 5-31-2021 end date. 2018/11/12: RUCDR was notified in September of one subject (798-HCA9985722) who was ineligible for the study and requested the sample (MH0221868) be destroyed. No data has been released for this study as yet. - BGR Cynthia Hernke, Senior Personnel hernkec@wustl.edu 314-362-3775 Washington University 2018/11/12: Adding notes for previous revoked consent (March 2017) for subject 798-HCA6880490. Subject 798-HCA8257784 was ineligible for the study, so samples were requested to be destroyed (Aug 2017). Again, no data has yet been released for this study. - BGR

169 Genomics of Postpartum Depression. Depression MELTZER-BRODY, SULLIVAN

There is no grant number for this study

669, 769 25000

2022-07-11, RC: The PI provided a new contact for the study. The new contact is Dr. Jerry Guintivano (guinti@email.unc.edu). Dr. Guintivano reported that the study is expecting to recruit participants for another 2 years. 2021-3-17, NLS: This study is not currently submitting additional samples to the Repository. They have put in a request for continued access to the samples to perform further analysis on samples they currently have from the Repository. 2020-11-18, SW: Trained with Jerry; study is not working on a grant and there is no end date-- will end when samples (n=10,000) are all sent to IBX. 2019-02-19 BGR - updated expected # of subjects to 25,000 (was 0) based on Tara spreadsheet from may 2018.

171 Genetic Contributions of Negative Valence Systems to Internalizing Pathways Research Domain Criteria ROBERSON-NAY

R01MH101518

771 110

2023-04-28 AG: Updated AutoQC from 644ae126643d8 to 644bd3c982e9b. Marco updated the submission package to get rid of 276 blank lines at the bottom of the _sub file. This is the final submission package and Ready for Release. 2023-04-28 AG: Updated AutoQC from 6440388b7c424 to 644ae126643d8. Roxann submitted the new pseudo GUID in this submission. 2023-04-24 AG: Updated AutoQC from 643d8866d9757 to 6440388b7c424. Marco updated this submission package to exclude 276 blank rows at the bottom of the submission form. Roxann is also looking to getting a pseudo GUID for 1 individual. 2023-04-17 AG: Updated AutoQC from 63c95f2527eee to 643d8866d9757. Roxann made the updates to the race/ethnicity, parental linker ids and the pseudo GUID. 2023-01-31 AG: Study is Ready for Release*. Roxann will send us a pseudo GUID for the duplicate twin GUID issue. 2023-01-19 AG: Updated AutoQC submission from 5b57d0cc9da55 to 63c95f2527eee. 2022-09-11 BGR: Updated AutoQC number to most recent 63654cd0884df (prev: 5b57d0cc9da55). Note this submission did not pass AutoQC because of 4 ind_id errors that must be corrected at IBX (apparent typos based on paperwork). Initial review of submission is ongoing, will need to do comparison of previously released data vs new submission. 2022-04-08, RC: Updated AutoQC number to most recent package (5b57d0cc9da55). Please note there are other packages that exist in the AutoQC that might be more complete/relevant for particular information (e.g., 5b576d64bdf12). Renamed Study 176 to 171 to fix numbering error 2016-04-08. As of 4/2/2018, in contact, waiting on submission...

172 A Clinical Study to Establish a Metabolic Biomarker-Based Test to Diagnose Autism Spectrum Disorder in Early Childhood Autism BURRIER

1R44MH107124-01

772, 773, 774, 775, 776, 777, 784, 786 1500

2023-05-04 AG: Updated AutoQC from 6436c84646365 to 6453c0a70071c. This package includes the updated dx file that Dr. Burrier confirmed. We are waiting on NIMH to discuss how to respond to Dr. Burrier's comment about not submitting to NDA (a "public repository"). Otherwise, we have everything we need to release the study. 2023-04-12 AG: Marco updated the submission package to include corrections to the alt_id_type column in the _id file (changed to "study_ind_id"), the race in the _sub file (changed to "M"), and the 104 alt_ids that were missing leading 0's. The AutoQC submission # was updated from 6303c73400e7f to 6436c84646365. 2023-04-06 AG: Bob Burrier responded to our requested corrections. The company was forced to shut down the autism department. There has been challenges to fund their work. The autism staff is only tangentially affiliated with the company at this point and they cannot answer or fix our requested questions/corrections. They are trying to revive the autism program through funding opportunities. We are looking into the issues left and discussing with curation whether we can make the changes necessary to close out this study. 2022-08-22 JV: Updated AutoQC number from 62d1a430ef1b3 to 6303c73400e7f to reflect the answers Bob Burrier gave to our questions. Changes are noted in txt document "changes_jv" in submission package. 2022-08-17 BGR: Emailed Bob Burrier today to ask about 8 subjects with NULL dx_study and also twin status (all zygosity indicates twin or multiple birth but no parent IDs given, all family IDs unique). Response from Bob same day saying he will look into it. 2022-07-15, RC: Updated AutoQC number from 61a4f79943746 to 62d1a430ef1b3. Study recently sent in their publications file so I added it to their submission package. The current AutoQC number 62d1a430ef1b3 now includes all expected files from this study. BGR 09/29/2020: Per Tara Dutka on 09/22/2020, this study does not hae data at NDA or dbGaP Study Information: Eight sites: 772, 773, 774, 775, 776, 777, 784, 786 (as reported on sharing ss) ________________________________________________________________________ Outreach Information: 2018-07-13: Study trained as of 7/3. Study stated that due date (to us) is 9/30/2018. 2018-06-19: Lindsay Feuling is out due to injury. Will reschedule training when recovered. ________________________________________________________________________ Phenotypic Data Submission: Specifics on phenotypic and demographic information, diagnostic criteria, primary and secondary diagnosis, medical history, family information); Inclusion criteria for the ASD subjects in this study will include a diagnosis of autism by DSM-IV or V criteria, which will be confirmed by the Autism Diagnostic Observation Schedule (ADOS) and/or Autism Diagnostic Interview-Research (ADI-R) tools, administered by an ASD specialist. We will target a male to female ratio of subjects in the autism group that reflects that of the ASD population (approximately 4:1). TD subjects will be recruited from area school districts and community centers. The Mullens Scales of Early Learning (MSEL) will be used as a screening tool to ensure the absence of symptoms of ASD in the TD control children. Study confirmed during training that _phen and _phen_dd files will be needed for the following: ADOS SCQ MSEL Fam/med history Phys./neuro. exams Additional forms (not known by study during training) ________________________________________________________________________ Data Sharing Details: Study plans to submit by 9/30/2018. -SW Phenotypic data should be submitted within 6 months of biospeciman submissio, to be completed by the project year 3 end date of 3/31/3018. Clinical data is released with associated biospecimens, but not later than 3 months after the project ends assuming the grant is funded for 3 years. Estimated 6/30/2018 (data sharing ss). ________________________________________________________________________ Release Information: Will be released to the public no later than 1/31/2019.

173 Collaboration on preclinical autism cellular assays, biosignatures, and network analyses (Copacabana) Autism, Induced Pluripotent Stem Cells YEO

1U19MH107367-01

778 1

2023-06-15 AG: Updated AutoQC from 64851b68388bc to 648a5b9a51821. This package is good and the study is Ready for Release. 2023-06-12 AG: Updated AutoQC from 644a96492ef60 to 64851b68388bc. 2023-05-23 AG: Sampled informed us that the study submitted 4 additional vials (2 cell lines) in the dewar shipment. The study will need to add these into the submitter form. 2023-05-03 AG: Updated AutoQC from 644858b8ddf19 to 644a96492ef60. Marco expanded the length of the sequencing & free text fields. Waiting on Josh to confirm if the source_cell_type should be IPSCs instead of Fibroblasts. Our records indicate that we have IPSCs in storage. We are also waiting on the description of the maternal/paternal allele conclusion. Dave should be sending out the dewar shipment for the remaining 9 samples soon. 2023-04-26 AG: Updated successful AutoQC submission from 63db012486648 to 644858b8ddf19. 2023-02-02 AG: Added successful AutoQC submission 63db012486648. 2022-11-30 BGR: No data yet received for lines in storage at IBX (13 lines, 3 unmodified?, 10 modified?, all from the same donor - Craig Venter). 62e3fe0d3f773 is an iPSC submitter form submission that includes 6 rows for CNV-edited lines not yet received at IBX. Discussed with NIMH on 11/29 iPSC meeting, and determined we should reach out to request a _sub file containing a single row with demographics/"dx" info for the subject. Include an unmodified parental line as the RUID in the _sub file. Diagnosis file should identify if any interviews or diagnostic instruments were administered. iPSC submitted form should include information for all 13 lines, including the one that is submitted in the _sub file. _pubs file and study description should be included, too. cc David Panchision and nimh.genomics.resources. 2021/2/23, NLS: The remaining lines to be submitted in the coming year. 2019-04-09, SW: As per conversation with NIMH program staff on 2019-04-08, changed end date (from 2019-08-31) in SRTP to match end date on grant (2020-06-30). Study is trained, will reach out again ~January 2020 to receive an update on submission efforts.

174 The Role of Dysmyelination in Cognitive Impairment of Psychotic Disorders Schizophrenia LAZAR

1R01MH108962-01

779 210

22-Jul-2019 BGR: added NDA collection number and title 2021/2/24, NLS: According to the PI in her last RMR from 8/1/2020, the study has 73% enrollment. The PO thinks that the study might be extended, but is not sure if there is enough funding to extend. The PO would anticipate that less than the expected 210 datasets will be submitted.

175 Neurobiology of Autism With Macrocephaly Autism, Induced Pluripotent Stem Cells VACCARINO

R01MH109648

780 72

2023-03-22 BGR: Added iPSC Collection tag as iPSCs are being produced by this study. 2022-11-28 JV: Updated AutoQC number from 63601c4b90a4 to 637bce512c928 2022-11-01 BGR: Received updated AQC submission 63601c4b490a4. Reviewing to verify requested edits were made. Note: Livia Tomassini reports that 5 subjects with consent = "DIS" are not included in this submission while study 175 finalizes GDS paperwork with NIMH. 2022-10-19, SW: updated AutoQC number from 62a8e92d25b02 to 633c8173c14db. 2019-02-18 BGR: Added expected # subjects = 72 based on aim 1 and aim 2 descriptions in genetic data notes sections below 2021/2/25 NLS: No anticipated delays. 2022-03-22, SW: noted consent level as GRU with NAE modifier. Study will submit with GRU if overhaul not complete by time of submission. 2022-06-16, RC: Updated AutoQC Number to reflect the most recent submission. AutoQC Number changed from 625985e35af92 to 62a8e92d25b02. 2022-08-23 BGR: Reaching out to study because their QC submission only includes 1 line of data and appears to be a test of the system, not an actual data submission. I will ask them when we can expect their actual data submission and inform them that consent_modifier is now able to be submitted. 2022-08-24 BGR: Study responded denying that they owed us more data, I responded and looped in NIMH, including David Panchision, to make the requirements clear.

178 Human Connectome Project for Early Psychosis. Brain Function BREIER, SHENTON

U01MH109977

791, 792 400

2023-08-22 AG: On the iPSC call - we should have the study send back the successful iPSCs. We can check to make sure they are adequate, and if so we can then send the remaining CPL vials for the unsuccessful lines. 2023-05-24 AG: Study 178 is Ready for Release, but on an iPSC call it was mentioned that PBMCs were shipped to Dr. DiBiase in Australia from subjects recruited under study 178. We reached out to see if there were successful iPSCs. If so, we will follow up with David Panchision about whether this iPSC study should be separate from the original study 178. 2022-12-13 BGR: Marco made minor updates and compiled all documentation in 6397795deb23d. Ready for release. 2022-11-22 BGR: Received updated AutoQC submission 637bd2c5b77a6. Beginning to review to verify all requested changes were made. 2022-10-20 BGR: Received updated AutoQC submission 63516eaa2aeab. Beginning review to verify all requested changes were made. 2022-08-10 BGR: Communicated via helpdesk ticket #4488 required updates to their submission (N discrepancy, dx clarification, subject_type = "L" issues, and seemingly inappropriate "SS" dx_system designation for DSM-like codes). Study must address before sample shipment can occur. 2021/08/26, SW: email correspondence re: diagnosis information added 2021/3/8, NLS: By March 1, 2022, this study anticipates submitting 340 samples of whole blood. This study is likely to be extended. 2021-03-1, SW: Added Maria DiBiase as study personnel. 2020-03-31, SW: Study end date was changed from 2020-02-29 to 2020-10-31; study was given a NCE; end date date was confirmed by NIMH. 320 cases, 80 controls 2019-04-16, SW: SW in touch with Study PI. PI stated that the study has been extended to 9/30/2020 (SW did not yet confirm this with PO), and will likely recruit up to the very end of the study. Study plans to submit 400 samples.

179 Ultra High Field Strength MRI and MRS Study of Bipolar Disorder in Adolescents Bipolar Disorder BLUMBERG

R21MH108940

789 52

2023-07-26 AG: Updated AutoQC from 64becbefae998 to 64c153e9651d5. This new package is good and Ready for Release. 2023-07-24 AG: Met with study - sent updated medical history & family history phen files that the study can use to fill in and submit to AutoQC. Updated AutoQC from 61ba2c6b9b4f8 to 64becbefae998. 2023-07-20 AG: Scheduled meeting with Susan and Erin to go over the phen & phen dd files, for 7/24/23. 2023-06-06 AG: Susan Quatrano (susan.quatrano@yale.edu) and Erin Carrubba (erin.carrubba@yale.edu) were cc'd on the email chain from the study. They received the feedback and will start on the revisions. 2021/3/12, NLS: The study end date is planned to be August 31, 2021. The PI anticipates that less than 20 samples will be submitted by March 1, 2022. BGR 09/29/2020: Per Tara Dutka on 09/22/2020, this study will not have data in NDA or dbGaP Study Information: One site: 789 ________________________________________________________________________Outreach Information: 2019-09-16, SW: Study applied for NCE. Study reported that it was granted and new end date is 08/03/2020. NIMH was informed. 2018-07-18: SW in touch with study. Clarifying confusion about study end date. 2018-06-19: PI out of country until July.Will schedule training upon return. ________________________________________________________________________ Phenotypic Data Submission: Demographic information (gender, ethnicity, age at time of assessment), results of diagnostic assessment (KSADS/SCID), family psychiatric history, relevant medical history. ________________________________________________________________________ Data Sharing Details: Released with associated biospecimens, within 3 months after last clinical dataset is received but no later than project end date (12/31/2018) or the time of publication, whichever occurs first.

180 Mapping the Human Connectome During Typical Development Brain Function BARCH, BOOKHEIMER, SOMERVILLE, THOMAS, VAN ESSEN

U01MH109589

801, 802, 803, 804 1500

2023-06-06 JTS: Adding Deanna Barch to "May Request Samples" as per Dr. Van Essen's request in HD#4759. Deleting Cynthia Hernke as per the same HD ticket. Preserving Cynthia's contact information below just in case. Cynthia Hernke, Senior Personnel hernkec@wustl.edu 314-362-3775 Washington University 2023-05-22 JTS: Sent study final submission checklist. Ready for release 2023-05-15 AG: Updated AutoQC from 6427370c4063a to 645eabdec07bb. 2023-04-26 JTS: Feedback sent to Sandy via email. Only a couple small items that may require no action from them: confirm UNA description, check whether 1 subject/sample pair should be included, check if 1 subject/sample pair should be removed, and check on replacement samples for 4 subjects. 2023-03-31 JTS: Study made new submission that passed AutoQC. AutoQC# 6427370c4063a replacing 62321eb2e29d7. 2023-03-30 JTS: Study updated _DX file, seems satisfactory. Attempted AutoQC but some provided IND_IDs don't match what we have at Sampled, waiting to hear from study which IND_IDs are correct. 2021/6/25, NLS: Currently, this study does not have any funding for genetic analysis. They had hoped to propose and secure funding to do genetic analysis via a future grant. Since they haven't, I deleted the deliverable for genetic data. 2021/2/24, NLS: Between now and the end of summer, the study expects to send maybe ~50 samples for HCP-D. 2020-11-04, SW: Study reports end date of 4-30-2021. 2018/11/12: RUCDR was provided a list of inds by Cynthia Hodge on 14-May-2018 to destroy samples from studies 180 and 168 -- Data for this study has not yet been released. Per CH "*The majority of these samples were never sent to RUCDR and were destroyed on site prior to shipping, once exclusion/withdrawal happened. BUT, in some cases, consent was later withdrawn or the participant was later withdrawn from the study by the investigator. Therefore, please check samples against this complete list and discard any sent to RUCDR. For questions, contact Cynthia Hodge hernkec@wust.edu" - BGR

181 Development of New therapeutic targets for patients with Bipolar disorder who are resistant to conventional psychotropic medications using induced Pluripotent Stem Cells (iPSC) Bipolar Disorder, Induced Pluripotent Stem Cells CHUNG, GAGE

There is no grant number associated with this study

806 20

2023-07-26 AG: On the iPSC call, David P mentioned that this was an international collaboration and that we are hoping they send iPSCs, but we're not sure. 2023-02-09 JTS: Yeni Kim provided SCID template for Korean translation. We still need to determine if this is an acceptable format. 2022-10-06 BGR: Matt Romanella sent feedback about QC submission on 10/4/2022 and BGR followed up on 10/6/2022 noting the absence of phenotypic, genetic data AND/OR linking IDs to dbGaP or other repositories where the phenotypic data may be stored. Matt Romanella looked closely into sample receipts and notes that the number of samples received recorded in the SRTP (36) is incorrect because 20 of the RUIDs were later re-assigned to other studies (101 and 184). We informed Serban and he will update the records. Also note that the email for Dr. Chung recorded below (ciw@duih.org) is bouncing back. 2022-06-21 RC: Added AutoQC number to reflect recent submission. 2022-04-14 RC: Updated training date - 03/25/2022. 2021/3/4 NLS: No additional samples will be collected for this study. The study has 20 iPSC lines that will be deposited. They were also hoping to clarify whether the parental cell populations used to generate the iPSCs will be needed as well? these are also available. Additionally, for the iPSC lines will more than one clonal line per subject be required? Please advise here. They can clarify with RUCDR if needed as well.

182 Systematic Functional Interpretation of Regulatory Variants in Schizophrenia Induced Pluripotent Stem Cells, Schizophrenia DUAN, PENZES

R01MH106575; R21MH102685

808, 809, 836 20

2023-06-23 AG: Alan Sanders (alan.sanders.md@gmail.com) sent us a sub and dx file for the 2 subjects who were unreleased from study 29. 2023-05-31 BGR: Dr. Duan added multiple GSM IDs per subject into AutoQC submission 647693a99e68c, at our direction. Since some rows have many IDs, they exceeded the length restriction on the alternate ID field, so the AutoQC package failed; however, Marco verified that the only issue in the submission is the length, so we are accepting this package as the final submission and can deal with the ID length issue on the back-end. We should have all required data and metadata to release the iPSCs as secondary samples, excepting that there are 2 lines for which the original subject is not released on our website (147-2333-001/06C52565 and 142-1613-001/07C71166). This is not Dr. Duan's fault; we have reached out to the original PIs of study 29. 2023-05-10 BGR: Dr. Duan submitted a complete package through AQC, adding _pubs, acknowledgement, and study description. 645bca2756131. After prelim review it seems complete but we will look carefully and confirm with Dr. Duan. 2023-05-04 AG: Dr. Duan filled in the submitter form with our corrections and Jen Moore added in the max passage number to rows 2-22. Added in AutoQC # 6453bb408a5cd. We will still need to get metadata from the study (pubs, ack, study description). 2023-03-15 BGR: Sent email to Dr. Duan detailing the updates made to his submitter form and asking for confirmation of our changes, as well as requesting that he provide additional data where needed. I attach the file that we shared with him to SRTP below. Importantly, we added 8 iPSC lines to the file that were previously left off, and there are 2 lines for which the original subject is not released on our website. 2023-03-08 BGR: Meeting scheduled with Jen Moore for 3/10 to go over the iPSC Submitter Form, iPSCs received, edited lines, and make sure all are recorded correctly in the iPSC submitter form. Then we can follow up with the study to confirm our updates and move forward with release. 2021/2/25 NLS: No anticipated delays. 12-Mar-2019 BGR: Moved date from "Release Date" to "Data Due Date" field -- release date is meant to be filled in when the data has been released. Site 808-material derived from Study 6 and site 809-materials derived from Study 29

183 Multimodal analysis of high-risk psychosis mutations in induced neuronal cells Induced Pluripotent Stem Cells, Schizophrenia LEVINSON, SUDHOF, WERNIG

U19MH104172

810, 811 20

2023-04-26 BGR: Jen Moore updated us that in fact, the RUIDs for the Levinson iPSCs that were originally released in study 29 cannot be cross-listed to study 183. We explored the option of updating the RUID to include a suffix, but the RU curation team recommended not to go down that route for a one-off situation. We will maintain the originally released RUIDs, and they will continue to be listed under study 29. 2023-03-08 BGR: Discussed on 28-Feb iPSC Improvement Series and determined that the iPSCs generated for Levinson should all be moved into study 183, including those previously released into study 29. Jen Moore assured us that the other samples originating from study 29 for these subjects will not be impacted by this geneaology change in LIMS. 2022-01-26 BGR: JM provided a report from LIMS about all of the iPSCs generated for Doug Levinson with source cells from Study 6 and Study 29 (see Levinson project cell lines_bgr.xlsx). All source cell RUIDs are released in Data Explorer except for 06C61378. 13 iPSCs retained their original source cell ID, and therefore were released in Data Explorer and SRTP under studies 6 (n=1) and 29 (n=12). 7 iPSCs made from study 29 source cells were assigned new RUIDs with "LE" prefixes and not assigned to an NIMH project. These will need to be moved to an NIMH project to show up in our reports and to allow us to release the iPSCs. I am not sure if they should also be added to study 29 like the others that are already released under that study, if this subset should be added to study 183, or if all iPSCs from the Levinson project should be moved to 183 including those currently residing under studies 6 and 29. We need to discuss with NIMH to determine the path forward. 2020-05-06, SW: SW removed check for "NDA" under "submission to other DBs". Received confirmation from Dr. Panchinsion on 2020-05-01 (via email) that this study is not expected to submit to NDA. Waiting for follow up regarding dbGaP. NIMH will be having have an internal discussion about rheir broader strategy on disposition of iPSC-derived WGS data that would otherwise have gone into dbGaP. Site 810-modified cell lines from Study 29 and site 811-modified cell lines from Study 6

184 iPSC-based platform development for major psychiatric disorder modeling and discovery Bipolar Disorder, Induced Pluripotent Stem Cells, Schizophrenia ALDA, BANG, CHEN, GAGE, MCINNIS, OSHEA, SONG

U19MH106434

812, 813 58

2023-08-15 AG: Anastasia sent a destruction request to Dave for the 2 commercial lines. (Letter2RequestDestruction_Study184_8.15.23.pdf). Updated AutoQC from 647747223a0aa to 64dbc6161160b. 2023-07-26 AG: We have not had a straight forward answer about the commercial lines from Fisher Lab. The study and NIMH agree to drop the lines. We requested the study submit a destruction letter (Subjects: 813-HDFN and 813-COMMERCIAL / Samples: MH0231198, MH0247957, MH0247958) and resubmit their package without these lines. 2023-05-31 AG: The study told us they have no record/knowledge of submitting any information to dbGaP on 5/19/23. Removing the checkbox. 2023-05-31 AG: Updated AutoQC from 64677e50a59c9 to 647747223a0aa. Anastasia submitted a new package with the 2 updated ind_id swaps (MH0285706, MH0285703). 2023-05-26 AG: Cindy DeLong reached out to us about the 2 commercial lines. Their lab (Sue O'Shea lab at UofM) used a commercial HDFn fibroblast line to produce 2 iPSC lines that they call C5G and C5K (813-HDFN and 813-COMMERCIAL at Sampled). She forwarded the product sheet from Invitrogen (MAN0001597_HDFn_PI_.pdf) and they did not need an MTA to buy the fibroblasts. Cindy is still waiting to hear back from Thermo Fisher to get documentation that they are allowed to bank the iPSC lines. 2023-05-19 AG: Updating AutoQC from 63ff9e85302ac to 64677e50a59c9. They study included the ack, study description, and updated the genetic_dx_name column in the _phen file. We are still waiting to hear back about the 2 commercial lines. 2023-03-01 BGR: Replacing previous submission (62d1aa956b047) with 63ff9e85302ac, received from Anastasia Yocum today. We provided preliminary feedback while troubleshooting her failed submission, and will begin reviewing the version that passed AutoQC. 2023-01-18 BGR: BGR sent detailed email including re-formatted submission package to study 184 personnel, including NIMH Program Officer. Anastasia Yocum replied to confirm she is still going to be the main point of contact for this study and will be back to us soon. 2023-01-10 BGR: Natasha notes that they submitted pseudoGUIDs but we need to collect GUIDs for this study. We also need to get them to update their diagnostic definitions. They reference DSM4 as the dx_system, but use non-standard codes (ie 296.70A). 2022-07-15, RC: Updated AutoQC number from (622121160e686) to (62d1aa956b047). Study recently sent in their acknowledgements and publications files so they were added to the submission package. The current AutoQC number (62d1aa956b047) now includes all expected files from this study. 2022-04-08, RC: Updated AutoQC number to most recent package (622121160e686). Please note there are other packages that exist in the AutoQC that might be more complete/relevant for particular information (e.g., 61eadc2d2bca3). 2021/2/23, NLS: No anticipated delays. 2018-02-18 BGR: Moved release date here, expected release date: 2021-11-30. I do not know how to enter expected # of subjects, it is confusing with the different sample type descriptions.

185 Alzheimer?s Disease Connectome Project Alzheimer's Disease, Brain Function BENDLIN, LI

UF1AG051216

814, 815 300

2023-08-16 AG: Ethan messaged the helpdesk -requested 3 participants be sequestered. "We are currently working with an advisory committee on how samples collected from American Indians/Native Americans should be approached for research, with an eye towards respecting data sovereignty." New package is 64dd32cbe4a75. Subjects are listed in "Study185_Sequestered_Samples_8.17.23.xlsx" 2023-08-15 AG: Updated AutoQC from 64d2bceb4404f to 64daaa23cab33. Ready for Release. 2023-08-09 AG: Updated AutoQC from 64cbeb66ba13e to 64d2bceb4404f. 2023-08-03 AG: Updated AutoQC from 648a0675f1233 to 64cbeb66ba13e. 2023-06-14 AG: Updated AutoQC from 6488e27f20d0a to 648a0675f1233. Study does not have any plans to submit to Connectome DB. 2023-06-14 AG: Updated AutoQC from 648892ed6b9e9 to 6488e27f20d0a. 2023-06-13 AG: Updated AutoQC from 63d97cb6cbdd2 to 648892ed6b9e9.Sent back our previous feedback with notes - not everything was addressed. 2023-02-01 AG: Updated AutoQC from 610c36f8c65b6 to 63d97cb6cbdd2. 2023-01-19 AG: There was a training session with Barbara on 10/14/22 about submission instructions. Contacted the study, 1/19, and said they can submit within the next few weeks. 2021-08-26, SW: Study submitted 8/5, UID added to SRTP; additional dx information (obtained via email) added as an attachment. 2021/3/12, NLS: This study is now inactive. The study end date was 9/30/2020. 2019-02-18 BGR: Updated expected samples based on biomaterial notes below, "A total of approximately 600 samples, 150 x 2 each collected at Medical College of Wisconsin & University of Wisconsin ? Madison." Interpreting to mean 2 samples per subject.

187 Healthy Brain Network Brain Function MILHAM

Not associated with an active grant

818 6500

2023-04-12 AG: Attempted to reach out to all study personnel, but Jasmine, Batya, and Alexis' emails are no longer valid. Another contact on the Child Mind Institute's website, Cindy Gil, (cindy.gil@childmind.org) was added to the email chain successfully. 2023-02-08 AG: Sent outreach email and generated a submission checklist, attached below. 2022-10-04, SW: Trained with Spencer (spencer.morenko@childmind.org); might train at a later date with whoever will be submitting files to us. Discussed potential submission timeline as project "ended" but they plan to continue; still determining whether or not more samples are to be sent to us and if we should be collecting assessment data. 2022-07-11, RC: When reaching out to this study, include Dr. Daniel Sebbag (Daniel.Sebbag@childmind.org).

188 Aging and Emotion Regulation Brain Circuitry in Bipolar Disorder Bipolar Disorder BLUMBERG

R01MH113230

819 160

2023-08-17 AG: Study made a submission - added AutoQC number, 64de58637c3b6. 1/31/23 AG: Scheduled training session with Susan and Erin on 1/31/23. Sent out checklist and study slides after meeting. 1/25/23 AG: Reached out to schedule a training session with Dr. Blumberg. They would like to be trained, trying to set up a time next week to meet. 2022/4/27, NLS: The PO confirmed that the study end date has been extended to 2/28/23. 2021/3/1, NLS: This project has resumed enrollment, but with restrictions. Submission of samples will continue to be few and slow.

189 Genetics of Severe Mental Illness -Colombia Schizophrenia BEARDEN, FREIMER, LOPEZ-JARAMILLO

R01MH113078

820 10000

2023-08-03 JTS: Adding Ana Maria Ramirez as study personnel. 2023-06-27 JTS: Nelson Freimer sent confirmation to add Ana Diaz as study personnel and May Request Samples. 2023-05-22 JTS: LIMS changes have been made. Major feedback package provided to study via HD#4746. Study cannot resubmit until data patch is complete. 2023-02-17 JTS: curation team reformated and merged their submission at AutoQC #63ef9f6f0403e. Awaiting response from Dave Keller re withdrawn consents/redraw requests. 2022-6-30, RC: Study 189 submitted their package in two parts, the first AutoQC number is 62b4037fe16c4 but the most recent submission's AutoQC number is 62b55cff6ab6f. 2022-06-23, RC: Added AutoQC number to reflect recent submission from 2022-06-22. 2021/2/26, NLS: Recruitment/sample collection delayed due to COVID BGR 20-Dec-2018: DK informed of request to destroy 2 samples due to sample swap (MH0240696, MH0240697). No data has yet been released for this study.

190 MicroRNA Dysregulation in Psychiatric Disorders and Cognitive Dysfunction. Induced Pluripotent Stem Cells, Schizophrenia GOGOS, MARKX

R01MH097879

821 12

2023-08-29 AG: Met with Bin to go over training slides. He will check with the PIs to see if they are submitting to dbGaP and if the DIGS & whole genome array data is going to NDA. The expected number of samples should be 20 (8 WB + 12 iPSC lines). 2023-08-07 AG: Bin Xu reached out to Dave to deposit 6 pairs of 22q11.2 microdeletion syndrome patient iPSC lines. Dave sent the iPSC submitter form and manifest form to the study and gave directions on how to proceed before shipping the cell lines to Sampled. 2023-07-25 AG: David P reached out to the study, they should have everything wrapped up by the end of September. This means that they need to start shipping their samples to Sampled soon and start working on their data. We will need to collect the GUIDs for these subjects. 2023-04-19 AG: Dr. Markx responded to our outreach saying that "we had already sent all hiPSC lines several years ago in one bulk standard ?high priority? shipment according to the NIMH rules and only later found out that they had never been incorporated into the Rutgers repository." He is willing to resend the iPSC lines and can set up a call if necessary. 2023-02-23 AG: Dr. Gogos responded saying "I am not part of the IRB protocol for this study and as such I have no authority whatsoever over the patient data submission process." and that we should only contact Dr. Markx. Forwarded response to David Panchision, since Dr. Gogos is the PI. Dr. Markx said he already submitted the IPSC lines and accompanying data to Rutgers, but is willing to submit it again. On the status report from Dave and Jen, there are no IPSCs listed. David is trying to schedule a meeting with Dr. Markx next week to clarify the situation. 2-10-2023 AG: In Dec 2022 and Jan 2023 David Panchision was in communication with Sander Markx (email attached). Dr. Markx sent 2 vials of blood for each of his 12 subjects to Sampled. He said they were only able to store samples for 4 subjects. He is willing to resend the samples to be stored. Dr. Panchision tried to meet with Dr. Markx, but communication fell off. 2/9/23 Dr. Panchision repsonded to our email asking about the study saying, "This NIMH-funded project is in the middle of grant closeout with expectations for both NDA and NRGR. The relevant part of the study involved 6 schizophrenia cases with 22q11.2 deletion and 6 age-matched control subjects that underwent structured clinical assessments; blood samples were obtained from each subject for generation of iPSC lines by the Columbia University stem cell core facility, while replicate blood samples were to be shipped to NRGR for lymphoblastoid cell line (LCL) generation and isolation of DNA as an NIMH program-recommended resource for the community. While no genomic analysis was planned under the stated aims of this grant, a contingency plan for genomic data sharing was included as a condition of receiving DNA from NRGR." Dr. Markx was suppose to send the externally produced IPSCs for the 12 subjects. Dave Keller checked his records and they have 8 subjects with LCLs, CPLs and DNA-LCL aliquots at Sampled. These were the only samples received from the study, and there are no biomaterials that were received and failed. 2021/2/25 NLS: No anticipated delays.

191 Longitudinal Assessment of Posttraumatic Syndromes. Research Domain Criteria JOVANOVIC, KESSLER, KOENEN, MCLEAN, PALLIN, PEARSON, RESSLER, SERGOT

U01MH110925

823, 824, 825, 826, 827, 828, 829, 830, 832, 833, 841, 842, 843, 846, 847, 865, 866, 867, 872, 873, 874, 875, 876, 878, 879, 880 3900

2023-07-03 JTS: Sampled continues to work on audit of samples for this study, no complete report yet but no issues have been found so far. 2023-04-25 JTS: Study confirmed no subjects have revoked consent since data was submitted in September 2022. They will resubmit when they get confirmation from Sampled that IND_ID update have been made. 2023-04-13 JTS: Updating collection to RDoC from PTSD. Clinical team noted that no subjects were ever diagnosed with PTSD. Natasha and Jonathan at NIMH were agreeable to change and noted that in study's grant application they refer to RDoC constructs. Will notify study when providing submission feedback. 2023-03-29 JTS: Study replied to feedback, has not resubmitted. They are reaching out to Sampled to change some IND_IDs. They provided more clinical info, need to review with Linda. They will not be submitting to dbGaP or PGC, only NDA, confirmed with Natasha. Otherwise, just need confirmation no consents were revoked. 2023-03-10 JTS: Sent feedback to submitter requesting more info re PTSD diagnoses, missing linking IDs, fam_id changes, and SNPTrace/GUID problems. 01-19-2023 AG: Updated AutoQC submission from 6309192fd5951 to 632387d571984. Marco reviewed and confirmed that the only remaining issue is ind_correction that Dave Keller subsequently confirmed they made in LIMS. Marco said they do not have to re-submit, we can fix the ind_id on the back-end. They included a TP file but left off additional item-level data, because all of it is submitted to NDA and they provided GUIDs. Per MA, still needs manual QC and curation team will revert the timecodes to leave "DRAW" suffixes out now that AQC can accommodate. 2022-08-26 BGR: Updated AutoQC submission UID from 626c0ffb32fbd to 6309192fd5951. Need to review to ensure the user provided all necessary updates. 2022-05-04, SW: Updated AutoQC submission UID from 625ebd513a394 to 626c0ffb32fbd. Study's sample request will move forward. Study made note that they were able to identify 6 out of 9 of inventory codes, with all 6 belonging to the same subject. Study did not find any record for the remaining 3 and they were taken out of the submission. 1/28/2021- TD: PO indicated project likely to go into NCE (1yr). Subject recruitment ended in December with ~3900 subjects. Follow up appointments with blood collection will continue for 8 months. Saliva is no longer expected. 2021/3/5, NLS: PO indicated that eventually, there should be a total of 6,600 samples. Some of the 6,600 still need to be submitted. The PO was unable to get a timeline on when to expect the outstanding samples. 2021/5/12, NLS: The PO expects that there will be an extension to complete the data submission and some analyses. 2021/10/22, SW: Updated study's new end date to 7/31/2022.

192 Modeling the Human Neuronal Phenotype of the Schizophrenia-Associated 3q29 Deletion Induced Pluripotent Stem Cells, Schizophrenia MULLE

R01MH110701

834 90

2023-09-19 AG: Sent study updated iPSC submitter form with RUIDs included. The study confirmed that they did not submit to dbGaP. 2023-09-11 AG: Study received RUIDs for iPSCs. 2023-07-13 AG: Study submitted the iPSC submitter form (submitter_form_3q29_phen.csv) and we passed this along to Sampled for sample shipment. 2023-02-21 BGR: Held training session on 21-Feb. Updated submission checklist and training slides are attached, and have been distributed to the study. Dave Keller will also be scheduling an additional call including the stem cell team at IBX to answer some of the specific questions they had that he could not answer. 2-3-2023 AG: Scheduled a new training meeting for 2/7/23. I added Dave Keller to the meeting so he can answer any questions about submitting IPSC samples. Deleted old training date, 2022-04-05 and added in the new training date. 2023-01-24 BGR: Jennifer Mulle reached out to David Panchision about submitting data, since she had been last in touch with Sherri and Ryan and they are no longer on the team. We are now in touch to discuss their data submission. Sent the study a draft checklist to clarify expectations, attached here as well. 2022-07-07, RC: Study received a No Cost Extension. The end date was changed from 2021-12-31 to 2022-12-31. 2022-04-14 RC: Updated training date - 04/05/2022. 2021/3/2, NLS: The enrollment for this project is complete. All samples have been deposited in the registry. The study had planned for 90 subjects, and has deposited samples for 86 subjects.

193 Binge Eating Genetics INitiative (BEGIN) Eating Disorders BULIK

na

835 5000

2022-05-25 RC: Updating AutoQC number to reflect the most recent submission. Updated from 621554f42d8d2 to 628e732f271ec. 2022-03-22, SW: Consent level should be HMB; was submitted with GRU while waiting for distribution overhaul.

194 Dimensional Connectomics of Anxious Misery Fear & Anxiety SHELINE

U01MH109991

837 250

2023-09-21 AG: Due to low yield, NIMH has decided not to accept any more samples from this study. Natasha will reach out to the study to inform them. 2023-02-22 JTS: Maria Prociuk (coordinator for Yvette Sheline) stated she has been in touch with Dave Keller but unable to get a shipping address. Following up with Dave and Natasha. 2023-02-16 JTS: reached out to study for update regarding sample submission. SRTP still showing 0 samples received. Provided contact for David Keller, copied nimh.genomics.resources@mail.nih.gov. PI replied stating they will look into this. 2021/3/13, NLS: the PI reported to the PO: the coordinator in charge of shipping the samples to the Repository left without shipping out the samples. Now, the PI?s research assistant is tallying up all the samples and will let us know how many they will be submitting. They are planning to submit all the saliva samples that they have. 2020-12-11, SW: Had conversation with Janet Stock regarding submission expectations. Study still has not submitted saliva samples (Covid-19 impacted this study). SW gave JS Dave Keller's email to arrange for saliva submission. Study agreed to submit main files and instrument data ASAP, aiming for before the New Year; SW will follow up on 1/8 if no submission was received. Other details include: SCID data will be sent, did not meet full recruitment due to pandemic-- 243 samples collected (~95% saliva compliance). 2019-05-07, SW: New email: Sheline@pennmedicine.upenn.edu (changed from sheline@mail.med.upenn.edu)

195 Large-scale reprogramming and expression analysis of patient-derived neural cells in schizophrenia Induced Pluripotent Stem Cells, Schizophrenia BRENNAND, BUXBAUM

R01MH111679

838 111

2023-09-22 AG: Met with Laura to go over AutoQC errors. They have not submitted to dbGaP yet, so they don't have linking IDs. Once Laura knows a timeline, she will let us know. 2023-05-03 AG: Sent outreach to Dr. Buxbaum, Dr. Brennand, Laura, & Rhea. Dr. Brennand's email (kristen.brennand@mssm.edu) bounced back. 2022-07-11, RC: The study has provided two new contacts for outreach - Laura Sloofman (laura.sloofman@mssm.edu) and Rhea Chandler (rhea.chandler@mssm.edu). 2021/2/25 NLS: No anticipated delays.

196 Recruitment and Characterization of Healthy Research Volunteers for NIMH Intramural Studies. Controls CHUNG

n/a (Protocol number 17-M-0181)

839 2000

2023-05-22 BGR: Dave Keller received this message from Dr. Joyce Y Chung via email today: "we have placed our NIMH research volunteer study on pause pending a change in PI as I will need to step away after leaving NIMH last year. While I am still the PI of record, there is no current plan to enroll new study participants and therefore we will not be sending any more blood samples to you." 2021/2/27, NLS: This study has been on hold since March 2020 due to the slow down of studies at NIH using healthy volunteers. The study is planning to reopen the study this fall if allowed. When it does reopen, they will be submitting additional samples on new volunteers. As a guesstimate, the study excepts submit to up to 200 samples maximum a year. Submissions include two yellow top and one purple top tubes.

197 A conserved transcriptional cascade involved in brain overgrowth, social behavior and autism. Autism, Induced Pluripotent Stem Cells WYNSHAW-BORIS

R01MH113106

840 12

2023-09-20 AG: Tony confirmed (via email) with FCDI that the commercial lines would be fine to send to NRGR. He would like to proceed with getting the cell lines to Sampled. 2023-06-26 AG: Tony reached out to the FCDI Licensing team (fcdi-licensing@fujifilm.com) to verify that we can release these iPSC lines. "NIMH funded our work to make isogenic lines that either corrected a single mutation in each of two lines or introduced those mutations into other lines. We have also used a lineage tracing system to determine the neural progenitor lineage of neurons produced in organoids, and those iPSC lines will be deposited." 2023-06-05 AG: Met with study for their training session. There are 4 subjects/17 cell lines that will be submitted in the iPSC submitter form. The 4 subjects are from a published study and were recruited based on their diagnosis of Autism and macrocephaly. The study will confirm with CIRM that they are allowed to ship the iPSC samples to Sampled. 2023-05-31 AG: Scheduled a training session with Dr. Wynshaw-Boris & team for 6/5/23. 2023-05-23 AG: Dr. Wynshaw-Boris sent a list of cell lines that have to be sent in to Sampled. (Attached: Study197_Cell_lines_to_be_banked_4.11.2023_SF) 2023-04-06 AG:David reached out to the study. The study indicated that they did not have success with the U Miami iPSCs, nor did they end up getting lines from Dr. Eng at the Cleveland Clinic. They ended up ordering existing lines from CIRM, from which they generated isogenic lines. They indicate they will submit soon 2023-03-16 AG: The study's sharing plan references 3 sties from which retrospective biospecimens would be obtained, Salk Institute, Lerner Research Institute, and U. Miami. All of the IPSCs were externally produced and should be submitted by the PI. Alysson Muotri from Salk donated 8 ASD cell lines to Wynshaw-Boris. These cell lines are already submitted to study 144, so they don't need to be resubmitted to 197. There should be about 11-12 donor lines from Learner, but we have not received any external IPSCs from the study. IPSC lines from U. Miami are possibly backup plans. David will reach out to the study for an update. 2023-03-08 BGR: Adding designation as IPSC study. not mentioned in title or selected as "collection" previously, so we missed this study with zero samples received. 2022/5/27: The PO reported that the grant has a no cost extension (NCE). The new project end date is 6/30/2023. The PO emailed the PI to let them know that they need to start submitting samples. 2021/2/25 NLS: No anticipated delays.

199 The GEN-SCRIP Study (GENetics of SChizophRenia in Pakistan) Schizophrenia KNOWLES

R01MH112904

854 17000

5/10/23, NLS: Updated project end date to that in NIMH's records. 1/25/23 AG: Updated new study end date from 4/30/22 to NCE end date 4/30/23. They will likely request a new NCE with an end date of 4/30/24, but will let us know if that is granted. 2022-05-05, SW: Study was trained on 5/4. Study is applying to NCE and might be submitting to NDA instead of dbGaP, which will require follow up for confirmation. 2021/3/9, NLS: GenScrip has been shut down since march, but the PO believes they are opening up in Pakistan and should be collecting again soon. BGR 09/29/2020: Per Tara Dutka on 9/22/2020, this study will not be submitted to NDA (although the couterpart GENBLIP will be). We need to collect item-level data for this study. 12-Mar-2019 BGR: Moved date from "Release Date" to "Data Due Date" field -- release date is meant to be filled in when the data has been released. Tara 4/19/2018 Registration Notes: This study has 3 institutes involved, but is only collecting samples in Lahore. Samples will be shipped in batches. Saqib Bajwa is the lead Co-I responsible for the recruitment in Lahore. The contact for the shipping is below: Lahore Contact Person: Arsalan Hassan Lecturer Department of Pharmacy Road 2, University of Peshawar, Peshawar KPK, Pakistan Zip code 25120 arsalan@uop.edu.pk Cell : +923463100484 Tel: +92919216750 Lahore Shipping Address: 551, Airline Housing Society Near University of Central Punjab Lahore, Pakistan The target release date for this project is November 1, 2022 (6 months after the project end date)

200 Mechanisms of Circuit Failure and Treatments in Patient-derived Neurons in Autism Autism, Induced Pluripotent Stem Cells MORROW

R01MH105442

857 15

2020-01-31, SW: Study is both "iPSC" and "Autism" Tara 5/22/2018 - This is an iPSC study that should have been registered several years ago. Sample number: Approximately 20 subject lines (10 proband-control pairs) x 3-5 clonal lines/subject = 60 to 100 clonal lines 2021/2/25 NLS: No anticipated delays. 2021/07/21, SLW: Study did not submit to dbGaP (sequencing was just to verify the NHE6 mutant). 2022-04-08, RC: Updated AutoQC number to most recent package (6092d484738a5). Please note there are other packages that exist in the AutoQC that might be more complete/relevant for particular information (e.g., 5ebc511c8cec5). 2023-09-19 JTS: Reached out to PI regarding subjects possibly incorrectly submitted a linkers.

201 Cellular, molecular, and functional imaging approaches to understanding early neurodevelopment in autism. Project 3: Biological substrates of risk and resilience using patient-derived stem cells Autism, Induced Pluripotent Stem Cells VACCARINO

P50MH115716

858 48

2023-09-22 BGR: Updated study end date from 2022-10-31 to 2023-07-31 based upon forwarded email from NIH informing study 201 of an effective NCE. Livia Tomassini and FLora Vaccarino have asked us to delay release of their data because of this NCE; they have not yet published results about these samples. 2023-07-12 JTS: Livia submitted final package at AutoQC #64aee1e96e536. Previous AutoQC #64a708e707907. Marco confirmed this package is ready for release. Final submission checklist (submission_checklist_201_July2023_final.docx) uploaded to SRTP and sent to submitter. 2023-07-11 JTS: Sent Livia final feedback package. Minor edits from the curation team. No changes required, just want Livia to be the one to make the final submission. 2023-07-06 JTS: New submission at AutoQC 64a708e707907 (uploaded by me. I made a small DX edit with Livia's permission. For her original submission see 64a5c5461eb90). All of our feedback appears to have been addressed. Old AutoQC #: 6478f21d2b5db 2023-06-14 JTS: Feedback sent to submitter via HD #4753. Need desc/ack/consent/_PUBS, overhaul of _DX descriptions, genetic_dx update, IPSC submitter form updates, 1 missing subject/sample, dbGaP IDs. 2023-06-01 JTS: Livia made a new submission at AutoQC #6478f21d2b5db. Replacing previous AutoQC #62a8f7bc7f4be 2023-03-22 BGR: Added iPSC collection tag, as iPSCs are produced for this study. 2022-06-16, RC: Added AutoQC number for this study's submission on 2022-06-14. 2021/2/25 NLS: No anticipated delays. 12-Mar-2019 BGR: Moved "Release Date" to "Data Due Date." Release date is meant to record when data is actually released. Tara 5/ 23/2018 48 subjects- 192 samples (Blood, Fibroblast, iPSC[2 lines]) - Samples and data to be released beginning 6/1/2019 until end of study

202 Genetic Characterization of Neurodevelopmental Disorders in African Populations (NeuroDev Africa) Brain Function ABUBAKAR, DONALD, ROBINSON

R01HD102975-01

859 6000

2023-098-03 JTS: Natasha updated end date: 2026-08-31. 2022-11-04 BGR: Dave Keller informed of an elimination request for the CPL sample of MH0286780 - the user did not consent to cell line generation. 2021/10/21, NLS: Data Use Limitations (DUL): -Data from the University of Cape Town (site #859) is GRU, but IRB approval is required for secondary use -Data from KEMRI-Wellcome Trust (site #860) is GRU -Data from the Aga Khan University (site # TBD) is GRU, but IRB approval is required for secondary use 2021/3/8, NLS: The PI's best guess is that the study expects to meet its targets, but ultimately expect about a one year delay given the one year pause in efficient collection. So same number of samples, one year bump. 25-Oct 2019 LAB: Updated total expected sample and subject numbers from 3,000 to 6,000 to account for Kenyan site. Updated total number of expected cases and controls. 6k subjects expected total, (2000 cases, 2000 child controls, 1800 parents and 200 unaffected siblings). 12-Mar-2019 BGR: Moved date from "Release Date" to "Data Due Date" field -- release date is meant to be filled in when the data has been released. Sample update 8/7/2018: expected number of samples is listed as 3,000 in the SRTP. That would correspond to the 3,000 S. Africa subjects, but the project also expects to collect 2,600 subjects in Kenya, with NRGR to extract DNA. The Kenya arm of this project is still under negotiations. They plan to be submitting a separate data sharing plan for Kenya and want to make that a separate study when it negotiations are completed, as it may be conducted differently and have a slightly different timeline depending on the resources in Kenya (i.e. batched frozen samples instead of continuous and no cell lines). That new study will reflect the 2,600 in Kenya. Tara 5/24/2018 The project anticipates 100 trios and 700 single mothers. Samples for CPL production will only be collected from a subset of subjects (0-1200). LCL/iPSC production is not currently funded. For the release: After a two-year period described below, sample and data sharing will be allowed to the fullest extent permitted under applicable laws and regulations. All de-identified research samples and data (both genomic and phenotypic) that are produced based on any samples Broad receives from the NeuroDev South Africa site will be shared broadly through multiple routes, including: ? Controlled access databases such as dbGaP, MatchMaker Exchange, NRGR and/or NIMH Data Archives, etc. ? Controlled access consortia databases such as Psychiatric Genomic Consortium, Autism Spectrum Consortium etc. ? Open access data bases such as The Genome Aggregation Database (GnomAD), The Atlas of Human Malformation Syndromes in Diverse Populations, ClinVar etc. Data and samples will be shared on the first occasion of either A or B as follows: ? At the end of a two-year period, as follows: one year after the data freeze we will make the samples and data public; after an additional one year publication embargo, external investigators may publish on those samples or data. The date of the data freeze will be defined by the NeuroDev principal investigators. This sharing plan is consistent with that supported by NHGRI, the African Society for Human Genetics, and the Wellcome Trust for the H3 Africa initiative. OR ? At the time of publication of the first consortium-level (pooled data across sites) manuscript using the data from that freeze.

203 Collaborative Genomic Studies of Tourette Disorder: Phase II Induced Pluripotent Stem Cells, Tourette Syndrome BROWN, COFFEY, GILBERT, HEIMAN, HUYSER, KUPERMAN, WILLSEY, ZINNER

R01MH115958; R01MH115959; R01MH115960; R01MH115961; R01MH115962; R01MH115963; R01MH115993

600, 601, 602, 603, 604, 606, 608, 610, 611, 612, 614, 615, 616, 620, 861, 862, 863, 864, 883, 890, 968, 997 3000

2023-03-22 BGR: Adding iPSC Collection tag, as iPSCs will be produced by this study. The primary collection will still be Tourette. 2023-03-08 BGR: Brittany reached out to Gary on 3/8 describing data submission expectations for study 106/203. Gary reported that study 203 received a no-cost extension mid-grant due to recruitment difficulties in Europe, from COVID closures. He sent documentation of that extension and we can update his new end-date to match the extension (03-31-2024). Gary also sent a list of subject/samples that he has recorded for study 106 so that we can do an analysis of who is submitted already vs the expected "stragglers" recruited in gap between grants or from families that were already enrolled in study 106. 2022/1/12, NLS: All sites have Related Mental Health Conditions (RELMH) consent, but the consent for the University of Zurich (site # 968) is modified so that is is RELMH and Non-profit Use only (NPU). 2021/2/26, NLS: Recruitment/sample collection at all US and EU sites halted due to COVID, Asian sites recruiting but delayed Lora Bingaman 10/10/2019 Added the Vadaskert Foundation at the Vadaskert Child and Adolescent Psychiatry Hospital in Hungary, Budapest as a new site. Dr. Tarnok Zsanett is the site PI for this site. Tara Dutka 6/20/2018 24 is the expected total number of sites. The majority of the foreign sites are pending IRB approval. We have reserved site numbers for them and will register these sites as they are approved. 4 samples are expected per subject with a total of 3000 subjects.

204 Autism Genetics, Phase II: Increasing Representation of Human Diversity Autism GESCHWIND

R01MH100027-11

712, 718, 719, 720 1906

2023-09-21 AG: Daniel Geschwind approved Jennifer Lowe as staff who may order samples for this study. Added check by her name. 2023-04-18 AG: The latest AutoQC submission was an interim submission from Dr. Lowe. The study wanted to get feedback on their data so they can make corrections and hopefully not have a long list of corrections when they submit their final package in September. 2023-2-27 AG: Updated AutoQC submission number to 63f93f8145327. 2023-01-25 AG: Jennifer Lowe indicated that they have not submitting anything to dbGap.."Our genomic data go into NDA. We have not deposited anything to dbGaP." 2023-01-25 BGR: Per Jennifer Lowe, NDA collection 2035 is incorrect (that is study 126), and it should be NDA 2976. Updating. 2021/3/9, NLS: Not all of their sites are allowing in person right now, so while they are still recruiting subjects, they haven?t gotten samples from many of them. The PO will be talking to them on 3/12/2021 and may have more information after that. 21-May-2019 BGR: Updated number of samples from 5718 to 1906 based on description below from Tara -- multiple tube types per subject need not be counted separately as distinct samples. Received this instruction from Linda. 7/23/2018- Tara Dutka Registration Notes Project is a renewal of prior ACE project (Study 126) dbGaP deposit will go through NDAR Project is recruiting ~1906 Subjects (3 samples sent to NRGR,1 sample retained for samples) 1 whole blood (purple top) for wbDNA isolation 2 whole blood (yellow top) for LCL generation by NRGR 1 whole blood for RNA isolation (retained at UCLA) * For patients who cannot tolerate a blood draw: one saliva sample (retained by UCLA) in lieu of any whole blood samples. In our experience, up to ~3% our cohort may require a saliva sample. The minimum participating unit is a duo (proband & one biological parent). However, we encourage participation from both parents and any full- or half-siblings. Though the family compositions and exact number of participants cannot be known at this time, we estimate that ~35% of ASD probands will have two biological parents participating; ~30% will have an unaffected sibling; and some families will have more than one child with ASD.

205 Hoarding disorder in older adults: cognition, etiology and functional impact. Obsessive-Compulsive Disorder MACKIN, MATHEWS

R01MH117114

870, 871 3500

2023-07-28 AG: Dr. Mathews confirmed that Yi-Chieh Chang should be added as study personnel and marked as "may order samples". Confirmation was from Dr. Mathews directly on helpdesk ticket 4794. 5/12/23, NLS: Updated project end date 2/8/23 AG: There is a "SE" sample in the received by IBX section, Dave Keller confirmed that this is a mistake and will be deleted out. 2/3/23 AG: Met with study members and went over submission expectations. Sent checklist and slides to them after the meeting. Dr.Mathews indicated that some of the participants refused to send their sample to the repository, so the numbers may reflect that (<5%). They also didn't register for dbGaP yet, so they don't have a collection number. 1/27/23 AG: Scheduled a submission training meeting for 2/3/23. 1/26/23, NLS: According to the PO: "It is expected that this project will need a NCE due to the negative impact of Covid-19." 1/25/23 AG: Dr. Mathews is applying for a no cost extension. Informed them that they can still get trained on the submission process before the due date./ They want a training session, reaching out to schedule next week. 21-May-2019 BGR - Changed number of samples from 7000 to 3500 based on deliverable descriptions below, 1500 saliva and 2000 whole blood expected. Linda instructed to fix this listing. 8/24/2018 -Tara Dutka Placed temporarily in OCD collection. Subjects are GRU consent. May want to change to create hoarding disorder collection. Target release for samples and all data is 6 months after last sample is received (approximately 2/2024). 2021/3/3 NLS: The study is active and is currently at about 80-85% of its target. The study is still determining if they wish to extend the date of study collection. If needed, they would extend by a year to be safe. The current submission end date is tentatively scheduled as 6/30/2023. Lately, they have been averaging submitting 2-5 samples a week. They anticipate submitting both saliva and blood, with a preponderance of blood.

210 Dissecting the effects of genomic variants on Neurobehavioral dimensions in CNVs enriched for neuropsychiatric disorders. Rare Genetic Syndromes GUR

U01MH119738-01; U01MH119737-01; U01MH119736-01; U01MH119758-01; U01MH119741-01; U01MH119739-01

884, 885, 886, 887, 888, 896 2000

2020-30-04 (LAB): Updated the distribution from 22q11.2DS to Rare Genetic Syndromes. 2020-28-04 (LAB): Updated expected number of saliva samples. Note: Sean Gallagher is Project Manager for this project, and Heather Hain is the cross-site coordinator. In institutional Certificate, UCSD and U Toronto sites noted as "No" for "NIMH Repository Sample Submission" Expected consent level: GRU Acknowledgement statement: Data and biomaterials were collected as part of a multi-site study ?Dissecting the effects of genomic variants on Neurobehavioral dimensions in CNVs enriched for neuropsychiatric disorders?, supported by National Institutes of Health grants U01MH119738, U01MH119737, U01MH119736, U01MH119746, U01MH119758, U01MH119741, U01MH119739. The Principal Investigators are Raquel E. Gur, M.D., Ph.D., University of Pennsylvania; Donna M. McDonald-McGinn, M.S., CGC, Children?s Hospital of Philadelphia; Carrie Bearden, Ph.D., University of California, Los Angeles; Jonathan Sebat, Ph.D., University of California, San Diego; Jacob A.S. Vostman, M.D., Ph.D., University of Toronto; Anne S. Bassett, M.D., FRCPC, University of Toronto; Stephen W. Sherer, Ph.D., Sick Kids - Centre for Applied Genomics; Sébastien Jacquemont, Ph.D., Université de Montréal; Ann Swillin, Ph.D., Katholieke Universiteit Leuven; Therese van Amelsvoort, M.D., Ph.D., Maastricht University; Marianne Van den Bree, Ph.D., , Cardiff Universit; Michael Owen, Ph.D., FRCPsych, FMedSci, Cardiff University; Nigel M Williams, Ph.D., Cardiff University. The investigators are very grateful to the families who have participated in and contributed to this collaborative study. 2021/2/26, NLS: Project 2 phenotypic data collection has moved to virtual during the pandemic. It has already enrolled over 500 participants. During this period, DNA Samples have been sent to Toronto for apportion of the study participants. Commonly, they are batched by the collecting sites and we coordinate the shipment to Toronto. For new participants during COVID restrictions saliva samples are obtained for DNA extraction. As study participants? evaluation returns to normal, the study anticipates that blood samples will be obtained and shipped to the Rutgers repository. They anticipate that about 1,500 samples will be delivered.

212 Multimodal Developmental Neurogenetics of Females with ASD Autism PELPHREY

MH100028

891, 892, 893, 894, 895 400

Please double check with the PI if CPL generation is allowed. Breakdown of subjects: 125 probands 125 first parent 88 second parent 31 unaffected sibs 2021/3/1, NLS: This study has had major delays because of covid. They are back to seeing participants, but the different universities in the study (they are a network) have not allowed collection of blood (or saliva for that matter). The universities have only allowed things that could be done online (for the first few months) and now in person, but with social distancing. The PI thinks that University of Virginia is now close to saying yes to blood draws again (with proper COVID testing and all PPE procedures of course). The study is hoping we can extend our study date. The PI will provide an estimate on the number of samples to expect by March 2022 soon.

213 Leveraging Rare Genetic Etiologies to Advance Knowledge and Treatment of Neuropsychiatric Disorders Rare Genetic Syndromes MARTIN

U01 MH119705

897, 898, 899 1233

Acknowledgement Statement: Data and biospecimens were collected as part of a longitudinal study to identify individuals with rare genetic etiologies of neuropsychiatric disorders specifically for copy number variants 1q21.1 del, 15q13.3 del, 16p11.2 del/dup, 22q11.2 del/dup and CDH8. Whole exome sequencing analyses were completed. This study was supported by the National Institute of Health grant U01MH119705-01 and is based at the Geisinger Autism and Developmental Medicine Institute, Lewisburg, PA. The Principal Investigators are Christa Lese Martin, PhD and David L. Ledbetter, PhD. Co-investigators include Matthew Brown, PhD, Chris Chabris, PhD, Brenda Finucane, MGC, Richard Karlsson Linner, PhD, Scott Myers, MD, Matthew Oetjens, PhD, and Cora Taylor, PhD. Study collaborators include Evan Eichler, PhD and Rachel Earl, PhD from the University of Washington, Seattle, and John Constantino, MD and Dustin Baldridge, MD from Washington University, St. Louis. 2021/2/25, NLS: This study is likely to be extended. Although Geisinger continues to successfully enroll and test research participants online, the COVID-19 pandemic has significantly reduced in-person appointments at their clinic (and will continue to do so for some time). This has in turn limited their ability to obtain biospecimens to send to the NIMH repository. In addition, there was a significant delay in getting set up within the NRGR and establishing the collection kit pipeline with Rutgers/IBX. The latter has only been functional for the last few months, but they?re all set up now. Beyond COVID, they don?t foresee any other obstacles that would keep them from collecting/sending samples going forward. While they will continue to aim for our original targets, given the significant COVID-related delays so far, they feel it is more realistic to project that they will achieve at least 2/3 of the target sample numbers (822 samples instead of 1233) by the end of the grant period. They will, of course, do all that they can to accelerate recruitment and collection at their three sites towards our original goal, but also want to accurately acknowledge the negative impact the pandemic has had on their study. 2021/6/14, NLS: Removed Micah Pepper (pepperm@uw.edu) who no longer works on the study.

214 Genetics of suicide death Suicide COON

R01MH122412

315 3500

LAB: 2020-05-05: Renewables are pending discussion based on the pilot. Acknowledgement Statement: Samples and data from suicide deaths were contributed by the Utah Suicide Genetics Research Study team at the University of Utah. The core study team includes Drs. Hilary Coon, Anna Docherty, Andrey Shabalin, Emily DiBlasi, Amanda Bakian, Brooks Keeshin, Anne Kirby, Doug Gray, and Sheila Crowell, with contributions from many other co-investigators and research staff. In particular, this work would not be possible without our collaborators at the Utah State Office of the Medical Examiner under the leadership of Chief Medical Examiner Erik Christensen. This work was sponsored by NIMH grants MH099134 and MH122412, with additional assistance from the American Foundation for Suicide Prevention, the Clark Tanner Foundation, and The University of Utah. Processing of samples was done with assistance from CCTS grant UL1TR002538 from the National Center for Advancing Translational Sciences of the National Institutes of Health. In addition, partial support for all data sets within the Utah Population Database (Director Ken Smith) was provided by the University of Utah Huntsman Cancer Institute. 2021/2/26, NLS: Sample collection ongoing although delayed due to COVID

215 Eating Disorder Genetics Initiative (EDGI) Eating Disorders BULIK

R01MH120170

900, 901, 902 11000

Acknowledgement Statement: Collection of data and biomaterials for the Eating Disorders Genetic Initiative (EDGI) was funded by NIMH grant R01MH120170. The principal investigator is Cynthia M Bulik, University of North Carolina at Chapel Hill, NC, USA and Karolinska Institutet, Stockholm, Sweden. Site principal investigators are Nicholas G Martin, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia; Martin Kennedy, University of Otago, Christchurch, New Zealand; and Liselotte Petersen, Aarhus University, Aarhus, Denmark. The investigators are grateful to all individuals who have participated in and contributed to this study. 2021/2/26, NLS: Haven't started recruitment in US. Recruitment and sample collection in NZ and AUS has began but delayed due to COVID

216 Latino Ancestry Genomic Psychiatry Cohort Bipolar Disorder, Controls, Schizophrenia BIGDELI, FANOUS, PATO

R01MH123451

903, 904, 918, 919 0

2020-12-14 (LAB): Study will also include unaffected control subjects. Updated collections to include controls. This is a psychosis project and does not fall into a single diagnosis. Total # of cases: 3,000 Total # of controls: 3,000 Total # of subjects: 6,000 Total # of samples: 6,000 2021/3/9, NLS: This study is still planning to recruit the full amount but have had covid delays. This study might go a year longer or may accelerate instead, but only some sites are able to open right now while non-essential protocols are on hold.

217 African Ancestry Genomic Psychiatry Cohort - Phase II and Populations Underrepresented in Mental illness Association Studies (PUMAS) Bipolar Disorder, Controls, Schizophrenia BIGDELI, FANOUS, PATO

R01MH104964; U01MH125049

352, 844, 869, 920 4000

-Johns Hopkins University has IRB-NPU data use limitation. -Can only share some of the deep sequencing data but not the sample for a portion of the control subjects. -This is a psychosis project - cases will have BPD or SCZ. 2021/2/26, NLS: The PUMAS site will only be submitting blood. AAGPC recruitment is ongoing but slower right now. It may be extended, but it is hard to say since the projects just started. Recruitment is currently delayed but ongoing for the domestic part of the project so they should be able to fulfill commitment but probably will need additional time, its hard to say at this stage of the pandemic unfortunately.

218 The GEN-BLIP Study (GENetics of BipoLar Disorder In Pakistan) Bipolar Disorder KNOWLES

1R01MH123775-01

905 12000

Target release date for samples, genomic data and phenotypic data: November 1, 2025 (6 months after the project end date) Notes TD (2-22-21): Lahore Shipping Address: 551, Airline Housing Society Near University of Central Punjab Lahore, Pakistan Saliva samples only submitted in lieu of blood where blood not available. No cell line generation authorized.

219 Powering Genetic Discovery for Severe Mental Illness in Latin American and African Ancestries. Bipolar Disorder, Controls, Schizophrenia FREIMER, LOPEZ-JARAMILLO, OLDE LOOHUIS, OPHOFF

U01MH125042

1000, 906, 907, 908, 909, 998, 999 18900

2023-06-27 JTS: Ana Diaz submitted internal biosample request. Nelson Freimer sent confirmation to add Ana as study personnel and May Request Samples. BGR 10/18/2022: Data Released date was previously recorded as "2026-07-31" but the study hasn?t been released yet and we aren?t sure why that was entered as a release date as it is in the future. -Patients will have schizophrenia or bipolar disorder. -The Data Use Limitations are GRU for all four sites.

221 Electrophysiologic Sleep Phenotyping and Sleep-Dependent Neuro-maturation in Clinical and Healthy Pediatric Populations Brain Function BUCKLEY, FARMER, PAO, THURM

N/A. This study is supported via intramural funding.

913 244

222 ProNET: Psychosis-Risk Outcomes Network Research Domain Criteria, Schizophrenia BEARDEN, KANE, WOODS

U01MH124639

914, 915 1430

2021-07-26, NLS: The following tubes will be collected for each participant at each of two biospecimen collection study visits: ? 1 tube of buffy coat for DNA = 1 sample of buffy coat ? 3 tubes of whole blood = 1 sample of whole blood ? 3 tubes of serum = 1 sample of serum ? 6 tubes of plasma = 1 sample of plasma Since there will be two biospecimen collection study visits per participant, there will be the following per participant: ? 2 samples of buffy coat ? 2 samples of whole blood ? 2 samples of serum ? 2 samples of plasma Since there will be 1430 subjects, in total there will be: ? 2 samples of buffy coat x 1430 subjects = 2,860 samples of buffy coat ? 2 samples of whole blood x 1430 subjects = 2,860 samples of whole blood ? 2 samples of serum x 1430 subjects = 2,860 samples of serum ? 2 samples of plasma x 1430 subjects = 2,860 samples of plasma ? For a grand total of 11,440 samples The study will also collect hair and saliva for cortisol and possibly urine. At the end of the project, we (NIMH) can see if there is any left and take it at that time as we are for prescient. We will work out the data submission beyond the basic submission with the DPACC. This study is planning to do A LOT of assessments/instruments. All the data is going to NDA and is scheduled for rapid release, ahead of the biosamples. If NIMH can work it out with the DPACC, we would like to get the individual level data for the FIGS, SIPS and SCID.

223 Trans-ancestry genomic analysis of obsessive-compulsive disorder Obsessive-Compulsive Disorder CROWLEY, IRRENO SOTOMONTE , STORCH

U01MH125062 and U01MH125050

1001, 1002, 1003, 1004, 1005, 1006, 1007, 1010, 1011, 1012, 1013, 1014, 1015, 1016, 916, 922, 923, 924, 925, 927, 928, 933, 934, 937, 938, 944, 945, 947, 948, 949, 950, 952, 953, 954, 955, 958, 959, 960, 966, 976, 977, 995 5000

2023-03-22 BGR: Added slides and checklist from training session. Study also reported and update to the way that the saliva kits will be handled: Sampled will be shipping kits directly to sites, sites will send to Baylor, Baylor back to UNC, and finally UNC will batch ship DNA to Sampled. 2023-03-22 AG: Added NDA studyID: 4066 and training date 3/22/23.

224 The Price Foundation Genetic Studies of Anorexia and Bulimia Nervosa. Eating Disorders KAYE

Price Foundation

921, 973, 974 3741

2023-04-20 AG: (WashU Study)This study is from the Price Foundation, where we received the freezer. IBX needs to re-rack the freezer so they can accession the samples. NIMH will first need to approve the funds necessary to do this though. Gill notes that we have a fair amount of data sent over from them, but we will need to build a submission package first and obtain RUIDS for these samples.

225 Autism Biomarkers Consortium for Clinical Trials (ABC-CT) Autism MCPARTLAND

2U19MH108206-05

969, 970, 971, 972, 975 600

3/28/2023, NLS: I was audited the NDA info for a bunch of studies. I looked at this study since the NDA collection id is C3670 and normally NDA collection ids are numeric. I think that this study might be collection id 2288 in NDA. 6/28/2022, NLS: Blood will be collected from 200 trios (i.e., 200 subjects with ASD and their parents). This study will include 200 subjects with typical development, but blood will not be collected from these subjects.

226 MRI Based Presymptomatic Prediction of ASD Autism PIVEN, PRUETT

1R01MH118362-01

978, 979, 980, 981, 982 1000

2023-08-04 AG: No samples have been submitted yet. Dave Keller said that the intention of the study was to submit samples once their collections are complete. He hasn't heard from them recently, but he will reach out. The study doesn't have RUIDs yet so they cannot complete data submission. Number of subjects: This is a family study with quads. There will be 250 infant siblings along with their older siblings with ASD diagnosis, mothers, and fathers for a total of 1000 subjects. Number of Samples: 200 individual samples per site (50 infant siblings, 50 probands, 50 mothers, 50 fathers) X 5 data collection sites x 3 study timepoints = 3000 saliva samples

227 Breaking Through In OCD Genetics Induced Pluripotent Stem Cells, Obsessive-Compulsive Disorder STATE, WILLSEY

Foundation for OCD Research Grant #: 009395-2019-10-02

983, 984, 985, 986, 987, 988, 989, 990, 991, 992 5000

2023-03-22 BGR: Adding iPSC collection tag as iPSCs will be produced by this study. OCD will be primary collection.

Study Title Distributions PIs Grants Sites Subjects GWAS Notes