Acknowledgements

Study 99

Data and biomaterials for NIMH Study 99 were collected as part of the Brain-Behavior and Genetic Studies of the 22q11DS. This study was a collaborative RO1 between Children's Hospital of Philadelphia (CHOP) and the University of Pennsylvania (Penn). The study has the largest sample of over 300 patients with 22q11DS who have been genotyped and neuropsychiatric, neurocognitive, and neuroimaging phenotypes of brain structure and function. The collaboration combined genetic and neurobiologic paradigms to advance understanding of the pathogenesis of schizophrenia. There is a substantial risk for developing SCZ in adolescents and young adults with 22q11DS (23- 30%), with illness presentation and course similar to SCZ in the general population (1%). This study was supported by NIMH grants MH087626, MH087636, MH089983 and MH089924 and T32 grants MH019112 (JJY), EB004311 (JES), and an RSNA Fellow Grant (JES). The principal investigators are Raquel Gur/University of Pennsylvania (Penn) and Beverly Emanuel/The Children’s Hospital of Philadelphia (CHOP).

Study 111

Data and biomaterials were collected as part of a longitudal study of biomarkers for psychosis in velo-cardio-facial syndrome, also known as 22q11.2 deletion syndrome, supported by National Institutes of Health grant MH064824. This study is based at SUNY Upstate Medical University. The Principal Investigator is Wendy R. Kates, Ph.D. Co-investigators include Wanda Fremont, M.D., Stephen V. Faraone, Ph.D., Frank Middleton, Ph.D., Ioana Coman, Ph.D., and Kevin M. Antshel (who is now at Syracuse University). Study collaborators include Martha Shenton, Ph.D., Zora Kikinis, Ph.D., Sylvia Bouix, Ph.D., and Nikolaos Makris, M.D., Ph.D. (all at Brigham and Women's Hospital, Harvard Medical School). A portion of the behavioral data was acquired by Petya Radoeva, who was supported by the Autism Speaks' Dennis Weatherstone Predoctorial Fellowship. The investigators thank Jo-Anna Botti, Dr. Amy Olszewski, Carlie Thompson, Leah Mattiaccio, Karen Gentile, and Margaret Mariano for their assistance on this project. The investigators are very grateful to the families who have particpated in and contributed to this study.

Study 125

Data and biomaterials generated in Study 125/Site 393 were funded by an NIMH grant to Dr. Herb Lachman (MH087840: Analysis of Glutamatergic Neurons Derived from Patient-Specific iPS Cells). The co-investigators on this grant included Dr. Deyou Zheng and Dr. Reed Carroll, both from the Albert Einstein College of Medicine. Patients and controls were recruited at the Albert Einstein College of Medicine and at the Child Psychiatry Branch, NIMH, directed by Dr. Judith L. Rapoport. We want to thank participating families and Dr. Robert J. Shprintzen, Ph.D., President and Chairman of the board of The Virtual Center for Velo-Cardio-Facial-Syndrome, Inc., for patient referrals at the Einstein site.

Study 25

The IMAGE project is a multi-site, international effort supported by NIH grant R01MH62873 to Stephen V. Faraone. Site Principal Investigators are Philip Asherson, Tobias Banaschewski, Jan Buitelaar, Richard P. Epstein, Stephen V. Faraone, Michael Gill, Ana Miranda, Robert D. Oades, Herbert Roeyers, Aribert Rothenberger, Joseph Sergeant, Edmund Sonuga-Barke, and Hans-Christoph Steinhausen. Senior Co-Investigators are Margaret Thompson, Pak Sham, Peter McGuffin, Robert Plomin, Ian Craig, and Eric Taylor. Chief Investigators at each site are Rafaela Marco, Nanda Rommelse, Fernando Mulas, Wai Chen, Henrik Uebel, Hanna Christiansen, U. Mueller, Cathelijne Buschgens, Barbara Franke, Lamprini Psychogiou. Other investigators are Marieke Altink, Ellen Fliers, Ruud Minderaa, and Alysa Doyle. We thank all the families who kindly participated in this research.

Study 51

Study 51 was a study of ADHD Genetics carried out by Dr. Richard Todd, the Blanche F. Ittleson Professor of Psychiatry and Director of the Division of Child and Adolescent Psychiatry at Washington University School of Medicine in St. Louis, funded by NIMH grant 5R01MH071629-02. The study was interrupted by Dr. Todd's death in 2008. Collaborators of Dr. Todd assisted in data submission to ensure release of the data and samples: Dr. Nick Martin, Dr. Sarah Medland of Queensland Institute of Medical Research, Australia.

Study AD 0

Data and biomaterials were collected in three projects that participated in the National Institute of Mental Health (NIMH) Alzheimer Disease Genetics Initiative. From 1991-98, the Principal Investigators and Co-Investigators were: Massachusetts General Hospital, Boston, MA, U01 MH46281, Marilyn S. Albert, Ph.D., and Deborah Blacker, M.D., Sc.D.; Johns Hopkins University, Baltimore, MD, U01 MH46290, Susan S. Bassett, Ph.D., Gary A. Chase, Ph.D., and Marshal F. Folstein, M.D.; University of Alabama, Birmingham, AL, U01 MH46373, Rodney C.P. Go, Ph.D., and Lindy E. Harrell, M.D.

Study 17 (CATIE-AD)

Data used in the preparation of this article were obtained from the limited access datasets distributed from the NIH-supported "Clinical Antipsychotic Trials of Intervention Effectiveness in Alzheimer's Disease" (CATIE-AD). This is a multsite, clinical trial of persons with Alzheimer's Disease comparing the effectiveness of randomly assigned medication treatment. The study was supported by NIMH Contract #N01MH90001 to the University of North Carolina at Chapel Hill. The ClinicalTrials.gov identifier is NCT00015548.

Study 24

The data and collection of biomaterials for the Genetics of Eating Disorders study have been supported by the National Institutes of Health Grants (MH066122, MH066117, MH066145, MH066296, MH066147, MH066289, MH066193, MH066287, MH066288, MH066146). The principal investigators and co-investigators of this study were: University of Pittsburgh, Pittsburgh, PA: Walter Kaye, M.D., Bernie Devlin, Ph.D.; University of North Carolina at Chapel Hill, Chapel Hill, NC: Cynthia M Bulik, Ph.D.; Roseneck Hospital for Behavioral Medicine, Prien and Department of Psychiatry, University of Munich, Germany: Manfred M Fichter, M.D.; Kings College London, Institute of Psychiatry, London, UK: Janet Treasure, M.D.; Toronto General Hospital, Toronto, Ontario, Canada: Allan Kaplan, M.D., D. Blake Woodside, M.D.; Laureate Psychiatric Hospital, Tulsa, OK: Craig L. Johnson, Ph. D.; Weill Cornell Medical College, White Plains, NY: Katherine Halmi, M.D.; Sheppard Pratt Health System, Towson, MD: Harry A. Brandt, M.D., Steve Crawford, M.D.; Neuropsychiatric Research Institute, Fargo, ND; James E. Mitchell, M.D.; University of California at Los Angeles, Los Angeles, CA: Michael Strober, Ph.D.; University of Pennsylvania, Philadelphia, PA: Wade Berrettini, M.D., Ph.D.; and University of Birmingham, England: Ian Jones, M.D.

We are indebted to the participating families for their contribution of time and effort in support of this study. The authors also wish to thank the Price Foundation for sponsoring the earlier work of this collaboration and would like to thank the study managers and clinical interviewers for their efforts in participant screening and clinical assessments.

Study 96

Data and biomaterials for NIMH Study # R01MH085921 were collected as part of Olanzapine vs. Placebo in Outpatients with Eating Disorders. Eli Lily and Co. provided olanzapine and matched placebo pills but did not provide financial support. The principal investigator is Evelyn Attia, MD. The ClinicalTrials.gov identifier is NCT01170117 Additional key contributors are listed in supplemental information at https://clinicaltrials.gov/ct2/show/NCT01170117

Study 98

Data and biomaterials generated in Study 98 were funded by an NIMH grant to Dr. Kelly Klump (MH092377: A Twin Study of Mood, Behavior, and Hormones during Puberty). The co-investigators on this grant included: Dr. Pamela Keel, Dr. Cheryl Sisk, Dr. Lorah Dorn, Dr. S. Alexandra Burt, Dr. Brent Donnellan, Dr. Steven Boker, and Dr. Michael Neale. Participants and families were recruited via the Michigan State University Twin Registry, co-directed by Dr. S. Alexandra Burt and Dr. Kelly Klump, and the Michigan Department of Health and Human Services (MDHHS). The investigators are very grateful to the families who have participated and contributed to this study, and we thank the MDHHS for their collaboration and assistance.

Study 129

Data and biomaterials for NIMH Study 129 were collected as part of The Anorexia Nervosa Genetics Initiative (ANGI), an initiative of the Klarman Family Foundation, with support from the NIMH Center for Collaborative Genomics Research on Mental Disorders, award U24 MH068457, from the North Carolina Translational and Clinical Sciences Carolina Data Warehouse, and from the Foundation of Hope, Raleigh, North Carolina. 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; Mikael Landén, Karolinska Institutet, Stockholm, Sweden and Gothenburg University, Gothenburg, Sweden; and Preben Bo Mortensen, Aarhus University, Aarhus, Denmark and University of Copenhagen, Copenhagen, Denmark. The ClinicalTrials.gov identifier is NCT01916538.

Study 133

We are deeply grateful to all the individuals who participated in Road to Recovery from Eating Disorders and the Biomarker Discovery in Anorexia Nervosa II research study (NIMH study 133). We would also like to thank the medical personnel, research coordinators, and volunteers who helped make this project a success. This work was supported by the National Institute of Mental Health (K01 MH106675 to Dr. Baker; R01 MH095860 to Dr. Bardone-Cone).

AU Dataset 5 (Infant Siblings Project)

This project is a result of the collaboration between the Baby Siblings Research Consortium and the Infant Siblings Study, with data and biomaterials collection funded in part by Autism Speaks. The principal investigator is Dr. Stephen W. Scherer (Hospital for Sick Children, Toronto, Canada) and co-principal investigators are Dr. Lonnie Zwaigenbaum (University of Alberta) and Dr. Daniel Messinger (University of Miami). We would like to acknowledge the Hussman Institute for Human Genomics (Miller School of Medicine, University of Miami), from which the samples were obtained, and The Centre of Applied Genomics (Hospital for Sick Children, Toronto, Canada) for their genotyping services.

Study 4

The collection of data and biomaterials in another project has been supported by National Institutes of Health grant MH55135 ("Collaborative Linkage Study of Autism"). The Principal Investigator was Susan E. Folstein, M.D. (Tufts University/New England Medical Center, Boston, MA), and her key Clinical and Phenotypic Coordinators were Brian Winklosky and Beth Rosen-Sheidley, M.S., C.G.C. Co-Investigators included James S. Sutcliffe, Ph.D. and Jonathan L. Haines, Ph.D. (Vanderbilt University, Nashville, TN).

The collection of data and biomaterials in another project has been supported by National Institute of Health grant MH55284. The Principal Investigator and Co-Investigators were: University of North Carolina, Chapel Hill: Joseph Piven, M.D., University of Iowa, Iowa City: Val Sheffield, M.D., Ph.D., Veronica Vieland, Ph.D. and Thomas Wassink, M.D.

The Shanghai-New Jersey Consortium is currently conducting a privately funded Autism Candidate Gene Study involving researchers at Rutgers University (Department of Genetics) and University of Dentistry and Medicine of New Jersey (UMDNJ) (Center for Advanced Biotechnology and Medicine), New Jersey and The Chinese National Human Genome Center at Shanghai, China. The principal Investigator involved is Jay A. Tischfield, Ph.D. and the Co-Principal Investigators in New Jersey include Lei Yu, Ph.D., Linda M. Brzustowicz, M.D., Neda Gharani, Ph.D., James H. Millonig, Ph.D., Tara Matise, Ph.D., Derek Gordon, Ph.D. and in Shanghai Wei Huang, Ph.D., Ying Wang, Ph.D.

Study 10

Data and biomaterials for NIMH Study 10 were collected as part of "Collaborative Linkage Study in Autism", supported by NIMH grant R01MH055135. The principal investigators are Dr. Susan E. Folstein of Tufts Medical Center and Dr. Joseph Piven of The University of Iowa.

Study 14

The collection of data and biomaterials in one project that participated in the National Institute of Mental Health (NIMH) Autism Genetics Initiative has been supported by National Institute of Health grants MH52708, MH39437, MH00219, and MH00980; National Health Medical Research Council grant 0034328; and by grants from the Scottish Rite, the Spunk Fund, Inc., the Rebecca and Solomon Baker Fund, the APEX Foundation, the National Alliance for Research in Schizophrenia and Affective Disorders (NARSAD), the endowment fund of the Nancy Pritzker Laboratory (Stanford); and by gifts from the Autism Society of America, the Janet M. Grace Pervasive Developmental Disorders Fund, and families and friends of individuals with autism. The Principal Investigators and Co-Investigators were: Stanford University, Stanford: Neil Risch, Ph.D., Richard M. Myers, Ph.D., Donna Spiker, Ph.D., Linda J. Lotspeich, M.D., Joachim Hallmayer, M.D., Helena C. Kraemer, Ph.D., Roland D. Ciaranello, M.D., Luca L. Cavalli-Sforza, M.D., University of Utah, Salt Lake City: William M. McMahon, M.D. and P. Brent Petersen. The Stanford team is indebted to the parent groups and clinician colleagues who referred families. The Stanford team extends our gratitude to the families with individuals with autism who were our partners in this research.

Study 21 (AGRE)

The collection data and biomaterials come from the Autism Genetic Resource Exchange (AGRE) collection. This program has been supported by a National Institute of Health (grants MH64547 and 1U24MH081810) and Autism Speaks, Inc. (formerly the Cure Autism Now Foundation). The Principal Investigator of grant MH64547 is Daniel H. Geschwind, M.D., Ph.D. (UCLA). The Co-Principal Investigators include Stanley F. Nelson, M.D., and Rita Cantor, Ph.D. (UCLA), Christa Lese Martin, Ph.D. (U. Chicago), T. Conrad Gilliam, Ph.D. (Columbia). Co-investigators include Maricela Alarcon, Ph.D., Kenneth Lange, Ph.D., Sarah J. Spence M.D., Ph.D. (UCLA), David H. Ledbetter Ph.D. (Emory) and Hank Juo, M.D., Ph.D. (Columbia).

The Principal Investigator of grant 1U24MH081810 is Clara M. Lajonchere, Ph.D. (USC). The Co-Principal Investigators include Steven Moldin, Ph.D. (USC), Janet Miller, J.D., Ph.D. (Autism Speaks), Mark Urata, M.D. (CHLA), Constantinos Sioutas, Ph.D. (USC), David Amaral, Ph.D. (UC Davis), Curtis Deutsch, Ph.D. (UMASS).

Scientific oversight of the AGRE program is provided by the AGRE steering committee: Dan Geschwind, M.D., Ph.D., UCLA; Maja Bucan, Ph.D., University of Pennsylvania; W. Ted Brown, M.D., Ph.D., F.A.C.M.G., N.Y.S. Institute for Basic Research in Developmental Disabilities; Rita M. Cantor, Ph.D., UCLA; John N. Constantino, M.D., Washington University School of Medicine, St. Louis; T. Conrad Gilliam, Ph.D., University of Chicago; Martha Herbert, M.D., Ph.D., Harvard Medical School; Clara Lajonchere, Ph.D., Autism Speaks; David H. Ledbetter, Ph.D., Emory University; Christa Lese-Martin, Ph.D., Emory University; Janet Miller, J.D., Ph.D., Autism Speaks; Stanley F. Nelson, M.D., UCLA; Gerard D. Schellenberg, Ph.D., University of Pennsylvania; Carol A. Samanago-Sprouse, Ed.D., George Washington University; Sarah Spence, M.D., Ph.D., NIMH; Matthew State, M.D., Ph.D., Yale University; Rudolph E. Tanzi, Ph.D., Massachusetts General Hospital.

Study 30

Data was also provided by Dr. Patricia Rodier and Dr. Christopher Stodgell at the University of Rochester.

Study 31

Data and biomaterials for NIMH Study 31 were supported by NIMH grants 1P50HD055753-01, 5U19HD035466-08. The principal investigators are Dr. Patricia Rodier and Dr. Christopher Stodgell at the University of Rochester.

Study 33

NIDCD funded a program project grant (PO1/U19 DC 03610) that was conducted initially at the Eunice Kennedy Shriver Center in Waltham, MA, and then transferred to Boston University School of Medicine (Department of Anatomy and Neurobiology). This program project was part of the NICHD/NIDCD funded Collaborative Program of Excellence in Autism (CPEA). The Principal Investigator was Helen Tager-Flusberg, Ph.D. with Susan Folstein as the co-PI. Clinical data were collected by Robert Joseph, Ph.D., Susan Bacalman, M.S.W. and a team of students and research assistants. As part of this program project, a supplement was awarded by NIDCD to collect blood samples from the children enrolled in the program project and their first degree relatives. The collection of the blood samples was coordinated by Nancy Shaffer, B.A.

Study 34

The University of Washington Autism Center research was funded by a grant from the National Institute of Child Health and Human Development (U19HD35465; Geraldine Dawson, Director), which is part of the NICHD Collaborative Program of Excellence in Autism. The CPEA program project is directed by Geraldine Dawson, Ph.D. (Department of Psychology), with Gerard D. Schellenberg, Ph.D. (Departments of Neurology, and Gerontology and Geriatric Medicine) as molecular biologist, and Ellen M. Wijsman, Ph.D. (Department of Biostatistics and Division of Medical Genetics) as statistical geneticist. The Director of the Data Management and Statistical Core is Robert Abbott, Ph.D. (Department of Educational Psychology) with Jeffery Munson, Ph.D. (UW Autism Center). Associate Director in charge of recruitment and diagnostic data collection is Annette M. Estes, Ph.D. (Department of Psychiatry and Behavioral Sciences, Division of Child Psychiatry).

As part of an NIH supplementary project, Mount Sinai School of Medicine was funded from 2004-2005 to contact participants that previously participated in a family/genetic study of autism. Multiplex and simplex families were included. All participants were reconsented specifically to have their biomaterial and diagnostic assessment data contributed to NIMH repository. Any outstanding diagnostic and cognitive assessments were also collected. Blood samples were collected from affected and unaffected family members. For all affected family members, diagnostic assessments included the ADI-R, ADOS-G, Vineland Adaptive Behavior Scale, the PPVT-III and/or the Leiter International Performance Scale. The Principal Investigator was Dr. Alison McInnes, and Co-Investigators were Drs. Jeremy Silverman and Christopher J. Smith, who also supervised the data collection. The diagnostic data collection was performed by staff members at the Family Studies Research Center at MSSM who were trained and reliable raters on the ADI-R and ADOS-G.

Study 35

From 1997 to 2011, the NINDS (1997-2007; 5R01N736708) and the NIMH (2007-present; 5R01MH080647) funded an autism genetics study ("Molecular and Genetic Epidemiology of Autism") that was conducted by the John P. Hussman Institute for Human Genomics at the University of Miami Miller School of Medicine and Vanderbilt University. The Prinicipal Investigator is Margaret A. Pericak-Vance, Ph.D. Jonathan L. Haines, Ph.D., of Vanderbilt University Center for Human Genetics Research, is a subcontract Principal Investigator. Co-Investigators are Michael Cuccaro, Ph.D., John R. Gilbert, Ph.D., and Eden R. Martin, Ph.D.

Study 36

Data and biomaterials for NIMH Study 36 were collected by Principal Investigator Dr. Alison McInnes, and Co-Investigators Drs. Jeremy Silverman and Christopher J. Smith, who also supervised the data collection. The diagnostic data collection was performed by staff members at the Family Studies Research Center at MSSM who were trained and reliable raters on the ADI-R and ADOS-G. We extend our gratitude to the families whose continued participation in our studies made possible our contribution to the repository.

Study 37

Data and biomaterials collected for the Indiana University Genetic Studies of Autism has been supported by National Institutes of Mental Health grant U10-MH66766-02S1. The Principal Investigator was Christopher J. McDougle, M.D. (Indiana University) and the Co-Principal Investigator was John I. Nurnberger, Jr., M.D., Ph.D. (Indiana University). Co-Investigators included David Posey, M.D. (Indiana University), Carrie Smiley, R.N., as project coordinator, Sandi Barton and Kurt Williman as research interviewers. We acknowledge assistance form Naomi Swiezy, Ph.D., Kelly Ernsperger, LCSW, and Jennifer Wilerson, R.N.

Study 39

Behavioral data and biomaterials for NIMH Study 39 were collected as part of a family-based study on the genetics of the language and communication components of ASD and the broad autism phenotype. Funding for this project was provided by the National Institute of Mental Health grants MH070366 and MH088288, with additional support from the New Jersey Governor's Council for Medical Research and Treatment of Autism (CAUT12APS006 and CAUT15APL026). The Principal Investigator was Linda Brzustowicz, M.D., from the Rutgers University Department of Genetics and the Human Genetics Institute of New Jersey, Piscataway, NJ. Co-Investigators included Christopher Bartlett, Ph.D. (Nationwide Children's Hospital and the Ohio State University, Columbus, OH), Judy Flax, Ph.D., Steven Buyske, Ph.D., and Marco Azaro, Ph.D. (Rutgers University, Piscataway, NJ), Barbie Zimmerman-Bier, M.D. (New Jersey Medical School, Newark, NJ and St. Peter's University Hospital, New Brunswick, NJ), and Charles Cartwright, M.D. (New Jersey Medical School, Newark, NJ). We also acknowledge the efforts of the entire team of clinical coordinators, interviewers, phlebotomists, laboratory staff, data analysts, and collaborating clinicians. Most importantly, we sincerely thank all the families who gave so generously of their time and effort to make this research possible.

Study 41

The collection of data and biomaterials for Study 41 was done by investigators in the STAART Network under an NIH Grant. The grant’s focus was the study of the treatment of affective disturbance in children with autism through experiments addressing three specific aims: 1. To determine if the serotonin reuptake inhibitor, citalopram, is effective in the treatment of behavioral disturbance in children with autism. 2. To determine if physiological or genetic markers, measures of family function, or particular pretreatment symptoms are predictive of sensitivity and response to treatment with citalopram. 3. To better understand the response in clinical trials of children with autism by identifying factors influencing parent and clinician ratings of change and to develop new strategies by which to capture the response to therapeutic interventions.

Blood samples were collected between April 1, 2004 and October 30, 2006 and sent to the Genetic Repository from children and their parents participating in the citalopram trial. The citalopram trial was a multi-site randomized controlled trial (RCT) of the selective serotonin reuptake inhibitor (SSRI), citalopram, for the treatment of 149 children ages 5 to 17 with Autistic Spectrum Disorders (ASD) and moderate to severe levels of repetitive behaviors. This work was funded by National Institutes of Health via the following STAART center contracts: Mount Sinai School of Medicine, New York, New York: U54-MH066673, Eric Hollander, MD, principal investigator (PI) 5/1/04-12/11/08), Joseph Buxbaum, PI (12/12/08-4/30/09); University of North Carolina at Chapel Hill: U54-MH066418, Joseph Piven, MD, PI; University of California at Los Angeles: U54-MH068172, Marian Sigman, PhD, PI; Yale University, New Haven, Connecticut: U54-MH066494, Fred Volkmar, MD, PI. Dartmouth Medical School, Hanover, New Hampshire, and Boston University, Boston, Massachusetts: U54-MH066398, Helen Tager-Flusberg, PhD, PI; and DM-STAT, Inc, Boston: U01-HD045023, Kimberly Dukes, PhD, PI. Representatives from NIH included Ann Wagner, Ph.D.; Deborah Hirtz, M.D.; and Louise Ritz, MBA.The principal investigators included Eric Hollander, M.D.; Linmarie Sikich, M.D.; James T. McCracken, M.D.; Lawrence Scahill, M.S.N., Ph.D.; Joel D. Bregman, M.D.; Craig L. Donnelly, M.D.; and Bryan H. King, M.D. The Data Coordinating Center was led by Kimberly Dukes, Ph.D.

The RCT, NCT00086645, was registered at clinicaltrials.gov prior to onset and was conducted at the following 6 academic medical centers: Mount Sinai School of Medicine, New York, New York; North Shore–Long Island Jewish Health System, New York; University of North Carolina at Chapel Hill; University of California at Los Angeles; Yale University, New Haven, Connecticut; and Dartmouth Medical School, Hanover, New Hampshire.

In addition to the submission of trio blood samples, the following baseline (prior to treatment administration) was collected: Aberrant Behavior Checklist (ABC), Autism Diagnostic Interview-Revised (ADI-R), Autism Diagnostic Observation Schedule (ADOS), Vocabulary (Comprehensive Test of Phonological Processing (CTOPP) and Peabody Picture Vocabulary Test (PPVT)), IQ (Leiter International Performance Scale-Revised (Leiter-R), Mullen Scales of Early Learning, Wechsler Intelligence Scale for Children (WISC – IV), Wechsler Abbreviated Scales of Intelligence (WASI) or Stanford-Binet Intelligence Scales – 5th addition) and Vineland Adaptive Behaviors.

We extend our gratitude to the children and families who participated in the repository, and the STAART Psychopharmacology Network investigators for data collection.

Study 44

The collection of data and biomaterials for this study at Vanderbilt University was supported by a NIMH grant R01 MH061009 ("Genetic Analysis of 15q11-q13 in Autism") to James S. Sutcliffe, Ph.D.; grants P01 NS026630 ("Genetic Studies in Neurological Disorder"; Project 3: "Neurogenetics of Candidate Systems in Autism" and NS036768 ("Molecular and Genetic Epidemiology of Autism") to Jonathan L. Haines (subcontracted from Margaret Pericak-Vance, Ph.D.). Further support came from the Vanderbilt Kennedy Center for Research on Human Development (P30 HD015052), CTSA grant UL1TR000445 from the National Center for Advancing Translational Sciences. The Principal Investigator for the study collection was James S. Sutcliffe, Ph.D. (Vanderbilt University, Nashville, TN). The Co-Investigator was Jonathan L. Haines, Ph.D., and the Clinical and Phenotypic Coordinator for this project was Genea Crockett, M.S. We are most grateful for the families, without whose participation, this research would not have been possible.

Study 50

Utah Autism Genetics Project. From 2005 to 2011, the NIMH (R01 MH069359) to study genetics of autism and related phenotypes using nuclear families and extended pedigrees. Principal Investigator was Hilary Coon. We ascertained a total of ~360 trios and small nuclear multiplex families and over 100 multi-generation, multiplex families. These extended pedigrees were identified or confirmed using the Utah Population Database (UPDB), a computerized genealogy database (www.hci.utah.edu/groups/ppr/). Information regarding close relative relationships is contained in the repository. More extended pedigree relationship data may be obtained from the PI. For linkage, genotyping services were provided by the Center for Inherited Disease Research (CIDR) using the 6K Illumina SNP Linkage Panel 12.

Study 56/Site 163

The collection and biomaterials come from an NIMH Intramural Research Program study, "Clinical and Immunological Investigations of Subtypes of Autism," ClinicalTrials.gov Identifier: NCT00298246. This research was funded by the Intramural Research Program, ZIA MH002868-09. The Principal Investigator of the study was Susan E. Swedo, M.D. and Co-Principal Investigator was Audrey Thurm, Ph.D. Associate Investigators include David Amaral, Ph.D. Ashura Buckley, M.D., Precilla D'Souza, C.R.N.P., Daniel Geschwind, M.D., Jay Giedd, M.D., Paul Grant, M.D., Joan Han, M.D., Greg Holmes, M.D., Carlos Pardo, M.D., Carlo Pierpaoli, M.D., Ph.D., Margarita Raygada, Ph.D., Armin Raznahan, M.D., Ph.D., Owen Rennert, M.D., Sally Rogers, Ph.D., John Shoffner, M.D., Mike Sneller, M.D., Sarah Spence, M.D., Ph.D., and Matthew State, M.D., Ph.D.

Study 56/Site 208

The collection and biomaterials for the Autism Phenome Project (APP) has been supported by the National Institute of Mental Health (1R01MH089626, U24MH081810, and 1K99MH085099) and the University of California Davis MIND (Medical Investigation of Neurodevelopmental Disorders) Institute. The Principal Investigator is David G. Amaral, Ph.D. The Co-Principal Investigator is Sally J. Rogers, Ph.D. Co-Investigators include Sally Ozonoff, Ph.D., Christine Wu Nordahl, Ph.D., Tony Simon, Ph.D., Frank Sharp, M.D., Paul Ashwood, Ph.D., Judy Van de Water, Ph.D., Jeffrey P.Gregg, M.D., Irva Hertz-Picciotto, Ph.D., M.P.H., Susan M. Rivera, Ph.D., Clifford D. Saron, Ph.D., and Kathleen Angkustsiri, M.D.

Study 60

This project was supported by the following grants: NIH MH076028, HD003110 (Joseph Piven), R01 MH086117 (Veronica J. Vieland); U24 MH068457 (Jay Tischfield, PI). We also acknowledge the contributions of Molly Losh, Ph.D. to the design of this study.

We thank the families for their participation in the study and The Centre for Applied Genomics at the Hospital for Sick Children and University of Toronto for technical support. MWS acknowledges the support of CIHR [Strategic Training in Advanced Epidemiology (STAGE) program], Hamilton Health Sciences, and Scottish Rite Charitable Foundation. This work was funded in part by CIHR operating grants #79499 and #89777, NIH grants MH076028, HD003110 (Joseph Piven) and MH086117 (Veronica Vieland). SWS holds the GlaxoSmithKline-CIHR Endowed Chair in Genome Sciences. PS holds the Patsy and Jamie Anderson Chair in Child and Youth Mental Health.

This study makes use of data generated by the DECIPHER Consortium. A full list of centers who contributed to the generation of the data is available from http://decipher.sanger.ac.uk and via email from decipher@sanger.ac.uk. Funding for the project was provided by the Wellcome Trust.

Study 63

Collection of data and biomaterials for the University of Illinois at Chicago's (UIC) Autism Center of Excellence (ACE) Interdisciplinary Studies of Insistence on Sameness in Autism Spectrum Disorders has been supported by National Institutes of Mental Health grant 1P50HD055751. The Principal Investigator if Edwin H. Cook, Jr., M.D. (UIC) with John A. Sweeney, Ph.D. (University of Texas Southwestern; UTSW) as Co-Principal Investigator. Co-Investigators include Jeffrey R. Bishop, PharmD (UIC), Camille W. Brune, Ph.D. (UIC), Nancy Cox, Ph.D. (University of Chicago), Lea Davis, Ph.D. (UIC), Yogesh Dwivedi, Ph.D. (UIC), Robert Gibbons, Ph.D. (UIC), Kwan Hur, Ph.D. (UIC), Suma Jacob, M.D., Ph.D. (UIC), Emily Kistner-Griffin, Ph.D. (Medical University of South Carolina), Bennett L. Leventhal, M.D. (UIC), Matthew W. Mosconi, Ph.D. (UTSW), Fedra Najjar, M.D. (UIC), Thomas Owley, M.D. (UIC), Ghanshyam N. Pandey, Ph.D. (UIC), Michael Ragozzino, Ph.D. (UIC), Mark M. Rasenick, Ph.D. (UIC), and James S. Sutcliffe, Ph.D. (Vanderbilt University).

Research assistants and staff at the UIC ACE, under the supervision of Jennifer Gorski, Ph.D. and Jeff Salt, DClinPsy, collected diagnostic data. The data coordinator is Stephen J. Guter, Jr., MA. Phenotypic, genomic and imaging data have been submitted to the National Database for Autism Research (NDAR) as collection NDARCOL0000001. Biomaterials have been deposited in the Rutgers University Cell & DNA Repository (RUDCR). We would like to extend our gratitude to the individuals and families that volunteered to participate in these projects.

Study 64

Data and biomaterials for NIMH Study 64 were collected as part of "Center for Genomic and Phenomic Studies in Autism." The Principal Investigator of grant 1U24MH081810 is Clara M. Lajonchere, Ph.D. (USC). The Co-Principal Investigators include Steven Moldin, Ph.D. (USC), Janet Miller, J.D., Ph.D. (Autism Speaks), Mark Urata, M.D. (CHLA), Constantinos Sioutas, Ph.D. (USC), David Amaral, Ph.D. (UC Davis), Curtis Deutsch, Ph.D. Scientific oversight of the AGRE program is provided by the AGRE steering committee: Dan Geschwind, M.D., Ph.D., UCLA; Maja Bucan, Ph.D., University of Pennsylvania; W. Ted Brown, M.D., Ph.D., F.A.C.M.G., N.Y.S. Institute for Basic Research in Developmental Disabilities; Rita M. Cantor, Ph.D., UCLA; John N. Constantino, M.D., Washington University School of Medicine, St. Louis; T. Conrad Gilliam, Ph.D., University of Chicago; Martha Herbert, M.D., Ph.D., Harvard Medical School; Clara Lajonchere, Ph.D., Autism Speaks; David H. Ledbetter, Ph.D., Emory University; Christa Lese-Martin, Ph.D., Emory University; Janet Miller, J.D., Ph.D., Autism Speaks; Stanley F. Nelson, M.D., UCLA; Gerard D. Schellenberg, Ph.D., University of Pennsylvania; Carol A. Samango-Sprouse, Ed.D., George Washington University; Sarah Spence, M.D., Ph.D., NIMH; Matthew State, M.D., Ph.D., Yale University; Rudolph E. Tanzi, Ph.D., Massachusetts General Hospital.

Study 65

The AGP Simplex Collection (TASC) was funded by an award from Autism Speaks and by funding support to the repository development by the NIMH. The principal investigator and co-investigators on this study were Louise Gallagher, Trinity College Dublin; Astrid Vicente, Instituto Gulbenkian de Ciencia, Oeiras; Joseph Buxbaum, Mount Sinai School of Medicine; Peter Szatmari, McMaster University; William McMahon, University of Utah; Michael Cuccaro, University of Miami; James Sutcliffe, Vanderbilt University; Christine Freitag, Klinikum der Johann-Wolfgang Goethe-Universität, Frankfurt/Main; Sabine Klauck, Deutsches Krebsforschungszentrum (DKFZ), Heidelberg; Veronica Vieland (DCC Director), Research Institute at Nationwide Children’s Hospital, Ohio; Dan Geschwind, AGRE/UCLA, John Nurnberger, University of Indiana; Ed Cook, University of Illinois at Chicago; Raphael Bernier, University of Washington/CPEA.

Study 69

The University of Pittsburgh-Carnegie Mellon University Autism Center of Excellence (ACE) grant entitled "Biological and Information Processing Mechanisms Underlying Autism" was funded by NIH grant P50 HD055748-05. Dr. Nancy Minshew was the Director of this ACE and Dr. Bernie Devlin was the genetics consultant. The grant was composed of three projects. The projects involved a longitudinal study of infants at high and low genetic risk of developing autism and cross-sectional studies of children, adolescents and adults with and without autism.

• Project I. "Development of Categorization & Facial Knowledge in Low & High Functioning Autism". The Principal Investigator was Mark Strauss, Ph.D.; Co-Investigators were Jana Iverson, Ph.D. (University of Pittsburgh), Susan Campbell, Ph.D. (University of Pittsburgh), Joyce Giovanelli, Ph.D. (Children's Advantage), Judith Balk, M.D., MPH (Magee-Women's Hospital of Pittsburgh), Jennifer Ganger, Ph.D. (University of Pittsburgh), and Kevin Pelphrey, Ph.D. (Cargegie Mellon University and Yale University).
• Project II. "Disturbances of Affective Contact: Development of Brain Mechanisms for Emotion Processing". Kevin Pelphrey, Ph.D. (Carnegie Mellon University and Yale University) and Diane Williams, Ph.D. (Duquesne University) were Co-PIs. Co-Investigators included Ahmad Hariri, Ph.D. (University of Pittsburgh), Nancy J. Minshew, M.D. (University of Pittsburgh), and Mark A. Strauss, Ph.D. (University of Pittsburgh). Marcel A. Just, Ph.D. (Carnegie Mellon University) served as a consultant.
• Project III. "Systems Connectivity & Brain Activation: Imaging Studies of Language & Perception". Marcel Just, Ph.D. (Carnegie Mellon University) was PI. Thomas M. Mitchell, Ph.D. (Carnegie Mellon University) was a co-investigator and Antonio Y. Harden, M.D. (Stanford University) was a consultant.

We extend our gratitude to the children, adults, and families who participated in the blood collection for the repository.

Study 79

The collection of data and biomaterials comes from the Phenotypic and Genetic Factors in Autism Spectrum Disorders Study. Since 2008, this project has been supported by the Autism Consortium and by NIMH grants (1R01MH085143-Principal Investigator Louis M. Kunkel, Ph.D. and 1R01MH083565-Principal Investigator Christopher Walsh, M.D., Ph.D.). The study was conducted through a collaborative network of five hospitals [Boston Children's Hospital (BCH), the Lurie Family Autism Center at Massachusetts General Hospital (MGH), The Floating Hospital for Children at Tufts Medical Center, Boston Medical Center (BMC), and UMass Medical Center]. The Principal Investigators are Christopher Walsh, M.D., Ph.D. and Louis M. Kunkel, Ph.D. at BCH and Susan Santangelo, Sc.D. at MGH. Co-Investigators at the participating sites include: Ingrid A. Holm, M.D., MPH, Leonard Rappaport, M.D., MS and Ellen Hanson, Ph.D. (BCH), Elizabeth Caronna, M.D. and Marilyn Augustyn, M.D. (BMC), Ann Neumeyer, M.D., and Patricia Davis, M.D. (MGH), Karen Miller, M.D. and Laurie Demmer, M.D. (Tufts), and Jean Frazier, M.D. (UMass).

Study 86

The collection of data and biomaterials for this study at Vanderbilt University was supported by grants P01 NS026630 ("Genetic Studies in Neurological Disorder"; Project 3: "Neurogenetics of Candidate Systems in Autism", R01 NS036768 ("Molecular and Genetic Epidemiology of Autism"), and R01 MH 080647. The Clinical and Phenotypic Coordinators for this project were Genea Crockett, M.S. and Renee Laux, M.S. This work was conducted in collaboration with Drs. Margaret A. Pericak-Vance, Ph.D., Michael Cuccaro, Ph.D., John R. Gilbert, Ph.D., and Eden R. Martin, Ph.D. at the University of Miami Miller School of Medicine, Hussman Institute for Human Genomics.

Study 112

The collection of data and biomaterials for this study funded by Kenneth and Claudia Silverman Family Foundation was conducted at NYU Comprehensive Epilepsy Center, Saint Barnabas Insitute of Neurology and Neurosurgery (INN) and Children's Hospital of Pennsylvania. The Principal Investigator was Dr. Orrin Devinsky (Director of both NYU Comprehensive Epilepsy Center and Saint Barnabas Institute of Neurology and Neurosurgery (INN). The Co-investigators were Dr. Ruben Kuziecky, M.D. (NYU), Daniel Miles, M.D. (NYU), Judith Bluvstein, M.D. (NYU), William MacAllister, Ph.D. (NYU) in collaboration with Robert Schultz, Ph.D. (University of Texas at Austin).

Most importantly, we thank the families who have participated in and contributed to these studies.

Study 116

Data and biomaterials for NIMH Study 116 were collected as part of the study “Integrated Approach to the Neurobiology of Autism Spectrum Disorders, Tourette Syndrome and Spinocerebellar Ataxia”, supported by NIMH grants R01MH109648, R21/ R33 MH087879, R01MH089176 and Simons Foundation (Awards No. 137055; 399558 and 632742). The principal investigator is Dr. Flora Vaccarino, Yale School of Medicine, Child Study Center.

Study 126

Data and biomaterials were collected as part of the Autism Centers of Excellence (ACE) Network project “Autism Genetics, PhaseII: Increasing representation of human diversity” and supported by NIMH grant MH100027 to Daniel H. Geschwind, MD, PhD(University of California, Los Angeles, Los Angeles, CA). Co-investigators include John N. Constantino, MD (WashingtonUniversity, St. Louis, MO); Ami Klin, PhD (Emory University, Atlanta, GA); Sophie Molholm, PhD (Albert Einstein College ofMedicine, Bronx, NY); Dan Arking, PhD (Johns Hopkins University, Baltimore, MD); Stephan Sanders, MD, PhD (University ofCalifornia, San Francisco, San Francisco, CA); and Rita Cantor, PhD (UCLA). Data were managed by the Autism Genetic ResourceExchange (AGRE). We thank the families whose time and dedication to research made our work possible.

Study 126

Data and biomaterials were collected as part of the Autism Centers of Excellence (ACE) Network project “Autism Genetics, Phase II: Increasing representation of human diversity” via Autism Speaks’ Autism Treatment Network (ATN) and supported by NIMH grant MH100027 to Daniel H. Geschwind, MD, PhD (University of California, Los Angeles, Los Angeles, CA). Co-investigators include John N. Constantino, MD (Washington University, St. Louis, MO); Ami Klin, PhD (Emory University, Atlanta, GA); Sophie Molholm, PhD (Albert Einstein College of Medicine, Bronx, NY); Dan Arking, PhD (Johns Hopkins University, Baltimore, MD); Stephan Sanders, MD, PhD (University of California, San Francisco, San Francisco, CA); and Rita Cantor, PhD (UCLA). Data were managed by the Autism Genetic Resource Exchange (AGRE). We thank the families whose time and dedication to research made our work possible.

Study 135

NDA Collection 2021; NRGR Collection 135: Multimodal Developmental Neurogenetics of Females with ASD. This work was supported by a National Institute of Mental Health (NIMH) Autism Center of Excellence Network Award (R01 MH100028; PI: Kevin Archer Pelphrey), a grant from the Simons Foundation/SFARI (Award #: 95489; PI: Kevin Archer Pelphrey). Bio-samples and/or data for this publication were obtained from NIMH Repository & Genomics Resource, a centralized national biorepository for genetic studies of psychiatric disorders.

Study 164

Data and biomaterials for NIMH Study 164 were collected as part of "The Autism Biomarkers Consortium for Clinical Trials (ABC-CT)", supported by NIMH grant 1U19MH108206-01. The principal investigator is Dr. James McPartland. The ClinicalTrials.gov identifier is NCT02996669.

Study 172

Data and biomaterials for NIMH Study 172 were collected as part of Childrens Autism Metabolome Project (CAMP)/Development and Clinical Evaluation of the Stemina Metabolic Biomarker-Based Test to Diagnose Autism Spectrum Disorder in Early Childhood, supported by NIMH grant(s) 5R44MH107124-03 to Robert E. Burrier, Ph.D., Stemina Biomarker Discovery Inc. Financial Supporters: National Institute of Mental Health (NIMH) 5R44MH107124-03; Nancy Lurie Marks Family Foundation. The principal investigator(s) is/are Robert E. Burrier, Ph.D., Stemina Biomarker Discovery Inc. The ClinicalTrials.gov identifier is NCT02548442.

Study 175

Data and biomaterials for NIMH Study 175 were collected as part of the study “Integrated Approach to the Neurobiology of Autism Spectrum Disorders, Tourette Syndrome and Spinocerebellar Ataxia”, supported by NIMH grant R01MH109648. The principal investigator is Dr. Flora Vaccarino, Yale School of Medicine, Child Study Center.

Study 201

Data and biomaterials for NIMH Study 201 were collected as part of the study “Biological substrates of risk and resilience using patient-derived stem cells”, supported by NIMH grant P50 MH115716-03. The principal investigator is Dr. Katarzyna Chawarska, Ph.D., and the collaborating project co-Investigator is Dr. Flora Vaccarino, M.D., Yale School of Medicine, Child Study Center.”

Study 204

Data and biomaterials in NIMH Study 204 were collected as part of the Autism Centers of Excellence (ACE) Network project “Autism Genetics, Phase II: Increasing representation of human diversity” and supported by NIMH grant MH100027 to Daniel H. Geschwind, MD, PhD (University of California, Los Angeles, Los Angeles, CA). Co-investigators include John N. Constantino, MD (Washington University, St. Louis, MO); Ami Klin, PhD, and Cheryl Klaiman, PhD (Emory University and Children's Hospital of Atlanta, Atlanta, GA); Sophie Molholm, PhD (Albert Einstein College of Medicine, Bronx, NY); Dan Arking, PhD (Johns Hopkins University, Baltimore, MD); Stephan Sanders, MD, PhD (University of California, San Francisco, San Francisco, CA); Bogdan Pasaniuc, PhD (UCLA); and Rita Cantor, PhD (UCLA). Data were managed by the Autism Genetic Resource Exchange (AGRE), a division of Autism Speaks. We thank the families whose time and dedication to research made our work possible.

Study 144

This work was supported by grants from the California Institute for Regenerative Medicine (CIRM) TR2-01814 and TR4-06747, the National Institutes of Health through the NIH Director's New Innovator Award Program (1-DP2-OD006495-01), an R01 MH100175-01 from NIMH and from the International Rett Syndrome Foundation (IRSF grant # 2915); a NARSAD Independent Investigator Grant, an NIMH Autism Center of Excellence Program Project; the work was supported by the Helmsley Trust, the JPB Foundation, the Engmann Foundation, a grant from the CDMRP Autism Research Program; a KL2 CTRI (KL2TR00099) and a Postdoctoral Translational Fellowship from Autism Speaks. The principal investigators are Drs. Alysson R. Muotri (UCSD); Eric Courchesne (UCSD); Alan Percy (University of Birmingham); Fred H. Gage (Salk); Daniel Geschwind (UCLA) and Anthony Wynshaw-Boris (Case Western Reserve University). We are most grateful for the families, without whose participation, this research would not have been possible.

Study 117

We have generated induced pluripotent stem cell (iPSC) lines from patients with Fragile X Syndrome in order to study the neural development aspects of autism. Fragile X fibroblasts were obtained from Dr. Philip Schwartz who has recently launched an NIH-sponsored program to generate fibroblast and iPSC lines from patients with autism spectrum disorder as a resource for the research community.

The collection of data and biomaterials for NIMH Study 117 was supported by the National Institutes of Health grant number R33MH087925 entitled "Autism iPSCs for Studying Function and Dysfunction in Human Neural Development" to Jeanne F. Loring, Ph.D. (The Scripps Research Institute). Biospecimen collection was coordinated by Philip Schwartz, Ph.D. (Children's Hospital of Orange County) and Randi Hagerman, M.D., (University of California - Davis). Subjects enrolled in the study were diagnosed using the Autism Diagnostic Interview-Revised (ADI-R) and the Autism Diagnostic Observation Schedule (ADOS). The induced pluripotent stem cells were generated in Jeanne Loring's laboratory by Michael Boland, Ph.D. (RSRI).

Study BP 0

Data and biomaterials were collected in four projects that participated in the National Institute of Mental Health (NIMH) Bipolar Disorder Genetics Initiative. From 1991-98, the Principal Investigators and Co-Investigators were: Indiana University, Indianapolis, IN, U01 MH46282, John Nurnberger, M.D., Ph.D., Marvin Miller, M.D., and Elizabeth Bowman, M.D.; Washington University, St. Louis, MO, U01 MH46280, Theodore Reich, M.D., Allison Goate, Ph.D., and John Rice, Ph.D.; Johns Hopkins University, Baltimore, MD, U01 MH46274, J. Raymond DePaulo, Jr., M.D., Sylvia Simpson, M.D., MPH, and Colin Stine, Ph.D.; NIMH Intramural Research Program, Clinical Neurogenetics Branch, Bethesda, MD, Elliot Gershon, M.D., Diane Kazuba, B.A., and Elizabeth Maxwell, M.S.W.

Study 1

Data and biomaterials were collected as part of ten projects that participated in the National Institute of Mental Health (NIMH) Bipolar Disorder Genetics Initiative. From 1999-03, the Principal Investigators and Co-Investigators were: Indiana University, Indianapolis, IN, R01 MH59545, John Nurnberger, M.D., Ph.D., Marvin J. Miller, M.D., Elizabeth S. Bowman, M.D., N. Leela Rau, M.D., P. Ryan Moe, M.D., Nalini Samavedy, M.D., Rif El-Mallakh, M.D. (at University of Louisville), Husseini Manji, M.D. (at Wayne State University), Debra A. Glitz, M.D. (at Wayne State University), Eric T. Meyer, M.S., Carrie Smiley, R.N., Tatiana Foroud, Ph.D., Leah Flury, M.S., Danielle M. Dick, Ph.D., Howard Edenberg, Ph.D.; Washington University, St. Louis, MO, R01 MH059534, John Rice, Ph.D, Theodore Reich, M.D., Allison Goate, Ph.D., Laura Bierut, M.D.; Johns Hopkins University, Baltimore, MD, R01 MH59533, Melvin McInnis, M.D., J. Raymond DePaulo, Jr., M.D., Dean F. MacKinnon, M.D., Francis M. Mondimore, M.D., James B. Potash, M.D., Peter P. Zandi, Ph.D, Dimitrios Avramopoulos, and Jennifer Payne; University of Pennsylvania, PA, R01 MH59553, Wade Berrettini, M.D., Ph.D.; University of California at Irvine, CA, R01 MH60068, William Byerley, M.D., and Mark Vawter, M.D.; University of Iowa, IA, R01 MH059548, William Coryell, M.D., and Raymond Crowe, M.D.; University of Chicago, IL, R01 MH59535, Elliot Gershon, M.D., Judith Badner, Ph.D., Francis McMahon, M.D., Chunyu Liu, Ph.D., Alan Sanders, M.D., Maria Caserta, Steven Dinwiddie, M.D., Tu Nguyen, Donna Harakal; University of California at San Diego, CA, R01 MH59567, John Kelsoe, M.D., Rebecca McKinney, B.A.; Rush University, IL, R01 MH059556, William Scheftner, M.D., Howard M. Kravitz, D.O., M.P.H., Diana Marta, B.S., Annette Vaughn-Brown, M.S.N., R.N., and Laurie Bederow, M.A.; NIMH Intramural Research Program, Bethesda, MD, 1Z01MH002810-01, Francis J. McMahon, M.D., Layla Kassem, PsyD, Sevilla Detera-Wadleigh, Ph.D, Lisa Austin, Ph.D, Dennis L. Murphy, M.D.

Study 2

Data and biomaterials were collected and supported by NIMH grant R01 MH59602 (to Miron Baron, M.D.) and by funds from the Columbia Genome Center and the New York State Office of Mental Health. The main contributors to this work were Miron Baron, M.D. (Principal Investigator), Jean Endicott, Ph.D. (Co-Principal Investigator), Jo Ellen Loth, M.S.W., John Nee, Ph.D, Richard Blumenthal, Ph.D., Lawrence Sharpe, M.D., Barbara Lilliston, M.S.W., Melissa Smith, M.A., and Kristine Trautman, M.S.W., all from Columbia University Department of Psychiatry, New York, NY, USA. A small subset of the sample was collected in Israel in collaboration with Bernard Lerer, M.D. and Kyra Kanyas, M.S. from the Hadassah - Hebrew University Medical Center, Jerusalem, Israel. We are grateful to the patients and their family members for their cooperation and support, and to the treatment facilities and other organizations that collaborated with us in identifying families.

Study 8

Data and biomaterials for NIMH Study 8 were collected as part of "Genetic Analysis of Bipolar Disorder", supported by NIMH grant R01MH058693. The principal investigators are Dr. Carlos N. Pato and Dr. Michele Pato of University of Southern California.

Study 12

In addition, families were contributed by Dr. Carlos Pato at the University of Southern California and his staff. This work was sponsored by NIMH grants MH52618 and MH058693. Genotyping services were provided by the Center for Inherited Disease Research (CIDR). CIDR is fully funded through a federal contract from the National Institutes of Health to The Johns Hopkins University, Contract Number N01-HG-65403.

Study 19

Data and biomaterials were collected for the Systematic Treatment Enhancement Program for Bipolar Disorder (STEP-BD), a multi-center, longitudinal (5-8 year) project selected from responses to RFP #NIMH-98-DS-0001, "Treatment for Bipolar Disorder." The project was led by Gary Sachs, M.D., and coordinated by Massachusetts General Hospital in Boston, MA. The NIMH grant number was 2N01MH080001-001.

Study 40

Data and biomaterials were collected as part of eleven projects (Study 40) that participated in the National Institute of Mental Health (NIMH) Bipolar Disorder Genetics Initiative. From 2003-2007, the Principal Investigators and Co-Investigators were: Indiana University, Indianapolis, IN, R01 MH59545, John Nurnberger, M.D., Ph.D., Marvin J. Miller, M.D., Elizabeth S. Bowman, M.D., N. Leela Rau, M.D., P. Ryan Moe, M.D., Nalini Samavedy, M.D., Rif El-Mallakh, M.D. (at University of Louisville), Husseini Manji, M.D. (at Johnson and Johnson), Debra A. Glitz, M.D. (at Wayne State University), Eric T. Meyer, Ph.D., M.S. (at Oxford University, UK), Carrie Smiley, R.N., Tatiana Foroud, Ph.D., Leah Flury, M.S., Danielle M. Dick, Ph.D (at Virginia Commonwealth University), Howard Edenberg, Ph.D.; Washington University, St. Louis, MO, R01 MH059534, John Rice, Ph.D, Theodore Reich, M.D., Allison Goate, Ph.D., Laura Bierut, M.D. K02 DA21237; Johns Hopkins University, Baltimore, M.D., R01 MH59533, Melvin McInnis, M.D., J. Raymond DePaulo, Jr., M.D., Dean F. MacKinnon, M.D., Francis M. Mondimore, M.D., James B. Potash, M.D., Peter P. Zandi, Ph.D, Dimitrios Avramopoulos, and Jennifer Payne; University of Pennsylvania, PA, R01 MH59553, Wade Berrettini, M.D., Ph.D.; University of California at San Francisco, CA, R01 MH60068, William Byerley, M.D., and Sophia Vinogradov, M.D.; University of Iowa, IA, R01 MH059548, William Coryell, M.D., and Raymond Crowe, M.D.; University of Chicago, IL, R01 MH59535, Elliot Gershon, M.D., Judith Badner, Ph.D., Francis McMahon, M.D., Chunyu Liu, Ph.D., Alan Sanders, M.D., Maria Caserta, Steven Dinwiddie, M.D., Tu Nguyen, Donna Harakal; University of California at San Diego, CA, R01 MH59567, John Kelsoe, M.D., Rebecca McKinney, B.A.; Rush University, IL, R01 MH059556, William Scheftner, M.D., Howard M. Kravitz, D.O., M.P.H., Diana Marta, B.S., Annette Vaughn-Brown, M.S.N., R.N., and Laurie Bederow, M.A.; NIMH Intramural Research Program, Bethesda, MD, 1Z01MH002810-01, Francis J. McMahon, M.D., Layla Kassem, Psy.D., Sevilla Detera-Wadleigh, Ph.D, Lisa Austin, Ph.D, Dennis L. Murphy, M.D.; Howard University, William B. Lawson, M.D., Ph.D., Evarista Nwulia, M.D., and Maria Hipolito, M.D. This work was supported by the NIH grants P50CA89392 from the National Cancer Institute and 5K02DA021237 from the National Institute of Drug Abuse.

Study 48 (Part 1) Genetic Linkage and Association in Bipolar Disorder

This project was Application Number NA_00038551 (JH IRB #). Principal Investigators are: Francis McMahon, M.D., (National Institute of Mental Health), J. Raymond DePaulo, Jr., M.D., (Johns Hopkins University School of Medicine), and Elliot S. Gershon, M.D. (University of Chicago Medical Center).

Study 48 (Part 2) Amish Mennonite Bipolar Genetics Study (AmBiGen)

This project was supported by grant # ZIA MH002843-11 DIRP. Principal Investigators are: Francis McMahon, M.D., (National Institute of Mental Health), and Thomas G. Schulze, M.D. (University Medical Center Göttingen, Germany). These additional people have made significant contributions towards the generation and analysis of the data: Natalie Anderson, Emily Besancon, Meghan Blattner, Stephanie Cardenas, David T. Chen, Gloria Faraci, Kelly Gill, Liping Hou, Layla Kassem, Fabiana Lopes, Thomas G. Schulze, and Lexie Wille.

Study 49

Data and biomaterials used in this research report were collected by the International Neuro-Genetics Association of Spanish America and the United States (INGASU), and funded by NIMH grant MH69856 (Genetics of Bipolar Disorder in Latino Populations) to principal investigator Dr. Michael Escamilla (Paul L. Foster School of Medicine, Texas Tech University Health Science Center, El Paso, Texas). Additional principal investigators who participated in this grant were Dr. Alvaro Jerez (Centro Internacional de Trastornos Afectivos y de la Conducta Adictiva-CITACA, Guatemala), Dr. Ricardo Mendoza (University of California at Los Angeles-Harbor), Dr. Humberto Nicolini (Medical and Family Research Group, Carracci S.C., Mexico City, Mexico), Dr. Henriette Raventos (University of Costa Rica, San Jose, Costa Rica), and Dr. Alfonso Ontiveros (Instituto de Informacion de Investigacion en Salud Mental, Monterrey, Mexico). In addition to Drs. Escamilla and Nicolini, the following contributed to the diagnostic best estimation process: Drs. Salvador Contreras, Albana Dassori and Rolando Medina (University of Texas Health Science Center at San Antonio), Dr. Regina Armas (University of California at San Francisco), Dr. Javier Contreras (University of Costa Rica), and Drs. Mercedes Ramirez and Juan Zavala (Paul L. Foster School of Medicine, Texas Tech University Health Science Center).

Study 55

Data and biomaterials were collected in four projects that participated in the Adolescents at High Risk for Familial Bipolar Disorder funded by NIMH. From 2004-2009, the Principal Investigators and Co-Investigators were: Indiana University, Indianapolis, IN, R01MH068009, John Nurnberger, M.D., Ph.D., Robert Schweitzer, M.D., Gina Laite, M.D., Kelly Rhoadarmer, M.D., Vegas Coleman, M.D., and Elliot S. Gershon, M.D.; University of Chicago, Wade Berrettini, M.D., Ph.D.; University of Pennsylvania, Carrie Fisher, R.N., and Mariano Erpe, M.S.; University of Michigan, Ann Arbor, MI, R01MH068006, Melvin McInnis, M.D., Masoud Kamali, M.D., and Christine Brucksch, R.N.; Johns Hopkins University, Baltimore, MD, R01MH068006, Elizabeth Kastelic, M.D., and Holly C. Wilcox, Ph.D.; Washington University, St. Louis, MO, R01MH073151, Wendy Reich, Ph.D., Anne Glowinski, M.D., M.P.E., Julia Morgan, M.A., and Caroline Drain, M.H.S.

Study 71

The collection of Costa Rican and Colombian pedigrees samples was supported by National Institutes of Health Grants R01MH095454 (NBF). The UCLA group was further supported by grants P30NS062691 (NBF), K23MH074644-01 (CEB), and K08MH086786 (SCF). The University of Antioquia group was also supported by a grant from Colciencias and Codi (CLJ). Investigators: Nelson Freimer, M.D., Carrie Bearden, Ph.D., Scott Fears, M.D., Ph.D., Rita Cantor, Ph.D., Victor Reus, M.D., Carlos Lopez Jaramillo, M.D., Ph.D., Gabriel Macaya, Ph.D., Chiara Sabatti, Ph.D., Lori Altshuler, M.D., and George Bartzokis, M.D. Collaborating Institutions: University of California, Los Angeles; University of California, San Francisco; Stanford University; Universidad de Antioquia (Medellin, Colombia); Universidad de Costa Rica (San Jose, Costa Rica).

Study 75

The implementation of treatment and collection of data was supported by the Agency for Healthcare Research and Quality 1R01HS01937101 (AHRQ). This study was conducted at 10 sites. Collaborating Institutions: Massachusetts General Hospital; Case Western Reserve; Stanford University; University of Pittsburgh; University of Texas Health Science Center at San Antonio; University of Pennsylvania; Cornell University; Vanderbilt University; University of Michigan; University of Cincinnati, Lindner Center of HOPE.

The overall Principal Investigator (PI) of the study was Andrew A Nierenberg, M.D. from Massachusetts General Hospital. The study was conducted at the following 10 sites: Case Western Reserve (Joseph R. Calabrese, M.D., site PI), Massachusetts General Hospital (Dan V. Iosifescu, M.D., site PI), Stanford University (Terence A. Ketter, M.D., site PI), University of Pittsburgh (Edward S. Friedman, M.D., site PI), University of Texas Health Science Center at San Antonio (Charles L. Bowden, M.D., site PI), University of Pennsylvania (Michael E. Thase, M.D., site PI), Cornell University (James Kocsis M.D., site PI), Vanderbilt University (Richard C. Shelton M.D., site PI), the University of Michigan (Melvin G. McGinnis M.D., site PI) and University of Cincinnati, Lindner Center of HOPE (Susan L. McElroy, M.D., site PI).

Study 77

Data and biomaterials were collected as part of the International Cohort Collection for Bipolar Disorder (ICCBD), supported by the National Institute of Mental Health grant R01MH085542 and the Stanley Medical Research Institute. Data collection sites included Partners Healthcare/Massachusetts General Hospital, University of Southern California, Karolinska Institutet, and Cardiff University. Members of the International Cohort Collection for Bipolar Disorder (ICCBD): Jordan W. Smoller (principal investigator); Roy H. Perlis, Phil Hyoun Lee, Victor M. Castro, and Alison G. Hoffnagle (Massachusetts General Hospital); Pamela Sklar (principal investigator), Eli A. Stahl, Shaun M. Purcell, Douglas M. Ruderfer, Alexander W. Charney, and Panos Roussos (Icahn School of Medicine at Mount Sinai); Carlos Pato, Michele Pato, Helen Medeiros, Janet Sobell, James Knowles (University of Southern California); Nick Craddock, Ian Jones, Liz Forty, Arianna DiFlorio, and Elaine Green (Cardiff University); Lisa Jones and Katherine Dunjewski (Birmingham University); Mikael Landén, Christina Hultman, Anders Juréus, Sarah Bergen, and Oscar Svantesson (Karolinska Institutet); and Steven McCarroll, Jennifer Moran, Jordan W. Smoller, Kimberly Chambert, and Richard A. Belliveau, Jr. (Stanley Center for Psychiatric Research, Broad Institute).

Study 101

Data and biomaterials for NIMH Study 101 were collected as part of the Pharmacogenomics of Mood Stabilizer Response in Bipolar Disorder supported by NIMH grant U01MH092758-01. The principal investigator is Dr. John R Kelsoe (University of California, San Diego).

Study 123

Data and biomaterials were collected and supported by NIMH grant R01MH084831 (to Holly A. Swartz, M.D.) at the University of Pittsburgh School of Medicine. The main contributors to this work were Holly A. Swartz (Principal Investigator), Ellen Frank, Ph.D., Michael Thase, M.D., Paola Rucci, Ph.D., Jill Cyranowski, Ph.D., and Vishwajit Nimgaonkar, M.D. We are grateful to and wish to thank the individuals who participated in this study; this research would not have been possible without them.

Study 140 Genome Sequencing in Extended Bipolar Pedigrees

This project was supported by grant # 3R01MH095454-02S1. Principal Investigators are: Nelson Freimer, M.D. (University of California, Los Angeles), Carlos Lopez Jaramillo, M.D., Ph.D. (Universidad de Antioquia, Medellin, Colombia), and Gabriel Macaya, Ph.D./Henriette Raventos, M.D. (Universidad de Costa Rica, San Jose, Costa Rica).

Most importantly, we thank the families who have participated in and contributed to these studies.

Study 179

Data and biomaterials for NIMH Study 179 were collected as part of Ultra High Field Strength MRI and MRS Study of Bipolar Disorder in Adolescents. The study is designed to understand which genes and which parts of the brain are involved in disorders of mood and attention, supported by NIMH grant R21MH108940. The principal investigator is Hilary Blumberg, MD.

Study 184

Data and biomaterials for NIMH Study 184 were collected as part of the iPSC-based platform development for major psychiatric disorder modeling and discovery supported by NIMH grant U19MH106434. The principal investigators are Dr. Fred Gage (Salk Institute) and Dr. Hongjun Song (University of Pennsylvania).

Study 188

Data and biomaterials for NIMH Study 188 were collected as part of an Aging and Emotion Regulation Brain Circuitry in Bipolar Disorder study. This functional magnetic resonance imaging and genetic study is designed to understand the genes and parts of the brain involved in aging and mood disorders, supported by NIMH grant R01MH113230-01. The principal investigator is Hilary Blumberg, MD.

Study 58

Grants R01MH078111 and R01MH078143 (July 2006-June 2011): This project involves coordinated R01 appliations from Dr. John Blangero, Southwest Foundation for Biomedical Research, and Drs. David Glahn and Peter Fox, University of Texas Health Science Center at San Antonio. Grant R01MH083824 (August 2008-July 2013): The co-principal investigators on this single application includes Dr. David Glahn, University of Texas HSC at San Antonio, and Dr. John Blangero, Southwest Foundation for Biomedical Research.

Study 109

Principal support for the enhanced NKI-RS project is provided by the NIMH R01MH094639 (PI: Michael Milham). Additional support is provided by NIMH U01MH099059 (PI: Milham) and NIMH R01101555 (PI: Cameron Craddock). Funding for key personnel also provided in part by the New York State Office of Mental Health and Research Foundation for Mental Hygiene. Funding for the decompression and augmentation of administrative and phenotypic protocols provided by a grant from the Child Mind Institute (1FDN2012-1). Additional personnel support provided by the Center for the Developing Brain at the Child Mind Institute, as well as NIMH R01MH081218, R01MH083246, and R21MH084126. Project support also provided by the NKI Center for Brain Imaging and Neurostimulation (C-BIN), the Brain Research Foundation, and the Stavros Niarchos Foundation.

Study 114

Data and biomaterials for NIMH Study 114 were collected as part of "Mapping the Human Connectome: Structure, Function, and Heritability", supported by NIMH grant U54MH091657 and the McDonnell Center for Systems Neuroscience at Washington University. The principal investigator is VAN ESSEN, DAVID C, Washington University in St. Louis.

Study 168

Data and biomaterials for NIMH Study 168 were collected as part of "Mapping the Human Connectome During Typical Aging", supported by NIMH grant U01AG052564. The principal investigator is VAN ESSEN, DAVID C, Washington University in St. Louis.

Study 178

Data and biomaterials for NIMH Study #178 were collected as part of Human Connectome Project for Early Psychosis, which acquired high quality imaging, behavioral, clinical, cognitive, and blood samples on early psychosis patients in a manner consistent with the original Human Connectome Project. The study was supported by NIMH grant U01MH109977. The principal investigators are Martha E. Shenton, Ph.D., Brigham and Women’s Hospital and Harvard Medical School, and Alan Breier, M.D., Indiana University School of Medicine.

Study 180

Data and biomaterials for NIMH Study 180 were collected as part of Mapping the Human Connectome During Typical Development, supported by NIMH grant U01MH109589. The principal investigators are VAN ESSEN, DAVID C, and BARCH, DEANNA M, Washington University in St. Louis.

Data were generated as part of the CommonMind Consortium supported by funding from Takeda Pharmaceuticals Company Limited, F. Hoffman-La Roche Ltd and NIH grants R01MH085542, R01MH093725, P50MH066392, P50MH080405, R01MH097276, RO1-MH-075916, P50M096891, P50MH084053S1, R37MH057881, AG02219, AG05138, MH06692, R01MH110921, R01MH109677, R01MH109897, U01MH103392, and contract HHSN271201300031C through IRP NIMH. Brain tissue for the study was obtained from the following brain bank collections: the Mount Sinai NIH Brain and Tissue Repository, the University of Pennsylvania Alzheimer’s Disease Core Center, the University of Pittsburgh NeuroBioBank and Brain and Tissue Repositories, and the NIMH Human Brain Collection Core. CMC Leadership: Panos Roussos, Joseph Buxbaum, Andrew Chess, Schahram Akbarian, Vahram Haroutunian (Icahn School of Medicine at Mount Sinai), Bernie Devlin, David Lewis (University of Pittsburgh), Raquel Gur, Chang-Gyu Hahn (University of Pennsylvania), Enrico Domenici (University of Trento), Mette A. Peters, Solveig Sieberts (Sage Bionetworks), Thomas Lehner, Stefano Marenco, Barbara K. Lipska (NIMH).

Study 19

Data and biomaterials were collected for the Systematic Treatment Enhancement Program for Bipolar Disorder (STEP-BD), a multi-center, longitudinal (5-8 year) project selected from responses to RFP #NIMH-98-DS-0001, "Treatment for Bipolar Disorder." The project was led by Gary Sachs, M.D., and coordinated by Massachusetts General Hospital in Boston, MA. The NIMH grant number was 2N01MH080001-001.

Study 23

Data and biomaterials used in Study 23 were collected by the University of Pittsburgh and funded by an NIMH grant (Genetic Susceptibility in Schizophrenia, MH 56242) to Vishwajit Nimgaonkar, M.D., Ph.D. Additional Principal Investigators on this grant include Smita Deshpande, M.D., Dr. Ram Moanohar Lohia Hospital, New Delhi, India; and Michael Owen, M.D., Ph.D., University of Wales College of Medicine, Cardiff, UK.

Study 29

Control subjects from the National Institute of Mental Health Schizophrenia Genetics Initiative (NIMH-GI), data and biomaterials are being collected by the "Molecular Genetics of Schizophrenia II" (MGS-2) collaboration. The investigators and co-investigators are: ENH/Northwestern University, Evanston, IL, MH059571, Pablo V. Gejman, M.D. (Collaboration Coordinator; PI), Alan R. Sanders, M.D.; Emory University School of Medicine, Atlanta, GA, MH59587, Farooq Amin, M.D. (PI); Louisiana State University Health Sciences Center; New Orleans, Louisiana, MH067257, Nancy Buccola APRN, B.C., M.S.N. (PI); University of California-Irvine, Irvine, CA, MH60870, William Byerley, M.D. (PI); Washington University, St. Louis, MO, U01, MH060879, C. Robert Cloninger, M.D. (PI); University of Iowa, Iowa, IA, MH59566, Raymond Crowe, M.D. (PI), Donald Black, M.D.; University of Colorado, Denver, CO, MH059565, Robert Freedman, M.D. (PI); University of Pennsylvania, Philadelphia, PA, MH061675, Douglas Levinson, M.D. (PI); University of Queensland, Queensland, Australia, MH059588, Bryan Mowry, M.D. (PI); Mt. Sinai School of Medicine, New York, NY, MH59586, Jeremy Silverman, Ph.D. (PI).

In addition, cord blood samples were collected by Vishwajit Nimgaonkar's group at the University of Pittsburgh, as part of a multi-institutional collaborative research project with Jordan Smoller, M.D., D.Sc., and Pamela Sklar, M.D., Ph.D., Massachusetts General Hospital (grant MH 63420).

Study 76

Data and biomaterials were collected as part of a genetics study of schizophrenia supported by National Institutes of Health grant R01MH085548. This study is based at the University of Southern California. The Principal Investgators are Carlos N. Pato, M.D., Ph.D. and Michele T. Pato, M.D.; Co-investigators are Helena Medeiros, MSW, LICSW; James A. Knowles, M.D., Ph.D., Janet L. Sobell, Ph.D; Stephen Marder, M.D.; Diana Perkins, M.D., MPH; Peter Buckley, M.D.; Christopher Morley, Ph.D.; Dolores Malaspina, M.D.; Evelyn Bromet, Ph.D., Laura Fochtmann, M.D.; Douglas Lehrer, M.D.; Fabio Macciardi, M.D., Ph.D., Marquis Vawter, Ph.D.; Humberto Nicolini, M.D., Ph.D.; Mark Rapaport, M.D.; Jeffrey Rafovsky, M.D., Maria Azevedo, M.D.; Ayman Fanous, M.D.; and Michael Escamilla, M.D. All members of the Genomic Psychiatry Cohort Consortium (GPCC). Other GPCC members are Brooke Sklar, Colony Abbott, Rute Ferreira, Becky L. Kinkead, and Nuria Lanzagorta.

The investigators wish to acknowledge the tremendous efforts of all who contributed to the ascertainment of study subjects and biomaterials (clinical interviewers, phlebotomists, Rutgers University Cell and DNA Repository). We are especially grateful to all study participants.

Study 77

Data and samples were collected as part of the International Cohort Collection for Bipolar Disorder (ICCBD), supported by the National Institute of Mental Health grant R01MH-085542 and the Stanley Medical Research Institute. Data collection sites included Partners Healthcare/Massachusetts General Hospital, University of Southern California, Karolinska Institutet, and Cardiff University. Members of the International Cohort Collection for Bipolar Disorder (ICCBD): Jordan W. Smoller (principal investigator); Roy H. Perlis, Phil Hyoun Lee, Victor M. Castro, and Alison G. Hoffnagle (Massachusetts General Hospital); Pamela Sklar (principal investigator), Eli A. Stahl, Shaun M. Purcell, Douglas M. Ruderfer, Alexander W. Charney, and Panos Roussos (Icahn School of Medicine at Mount Sinai); Carlos Pato, Michele Pato, Helen Medeiros, and Janet Sobell, James Knowles (University of Southern California); Nick Craddock, Ian Jones, Liz Forty, Arianna DiFlorio, and Elaine Green (Cardiff University); Lisa Jones and Katherine Dunjewski (Birmingham University); Mikael Landén, Christina Hultman, Anders Juréus, Sarah Bergen, and Oscar Svantesson (Karolinska Institutet); and Steven McCarroll, Jennifer Moran, Jordan W. Smoller, Kimberly Chambert, and Richard A. Belliveau, Jr. (Stanley Center for Psychiatric Research, Broad Institute).

Study 167

Data and biomaterials for NIMH Study 167 were collected as part of Biomarker Assessment of Pomaglumetad on Glutamate Targets: Proof of Clinical Mechanism of Action (POCM), supported by NIMH grant HHSN271201200007I. The principal investigator is Jeffrey A. Lieberman, M.D. The ClinicalTrials.gov identifier is NCT02919774.

Study 7 (GenRED I)

Data and biomaterials were collected in six projects that participated in the National Institute of Mental Health (NIMH) Genetics of Recurrent Early-Onset Depression (GenRED) project. From 1999-2003, the Principal Investigators and Co-Investigators were: New York State Psychiatric Institute, New York, NY, R01 MH060912, Myrna M. Weissman, Ph.D. and James K. Knowles, M.D., Ph.D.; University of Pittsburgh, Pittsburgh, PA, R01 MH060866, George S. Zubenko, M.D., Ph.D. and Wendy N. Zubenko, Ed.D., R.N., C.S.; Johns Hopkins University, Baltimore, MD, R01 MH059552, J. Raymond DePaulo, M.D., Melvin G. McInnis, M.D. and Dean MacKinnon, M.D.; University of Pennsylvania, Philadelphia, PA, RO1 MH61686, Douglas F. Levinson, M.D. (GenRED coordinator), Madeleine M. Gladis, Ph.D., Kathleen Murphy-Eberenz, Ph.D. and Peter Holmans, Ph.D. (University of Wales College of Medicine); University of Iowa, Iowa City, IW, R01 MH059542, Raymond R. Crowe, M.D. and William H. Coryell, M.D.; Rush University Medical Center, Chicago, IL, R01 MH059541-05, William A. Scheftner, M.D., Rush-Presbyterian.

Study 18

Data and biomaterials were obtained from the limited access datasets distributed from the NIH-supported "Sequenced Treatment Alternatives to Relieve Depression" (STAR*D). STAR*D focused on non-psychotic major depressive disorder in adults seen in outpatient settings. The primary purpose of this research study was to determine which treatments work best if the first treatment with medication does not produce an acceptable response. The study was supported by NIMH Contract # N01MH90003 to the University of Texas Southwestern Medical Center. The ClinicalTrials.gov identifier is NCT00021528.

Study 20 (TADS and SOFTAD)

TADS (Treatment for Adolescents with Depression Study) was supported by Contract N01 MH80009 from the National Institute of Mental Health to Duke University Medical Center (John S. March, Principle Investigator). The authors would like to thank the members of the TADS Team. TADS is coordinated by the Department of Psychiatry and Behavioral Sciences and the Duke Clinical Research Institute at Duke University Medical Center in collaboration with the National Institute of Mental Health (NIMH), Rockville, Maryland. The Coordinating Center principal investigators are John March, Susan Silva, Stephen Petrycki, John Curry, et al.

SOFTAD (Substance Use and Othe Outcomes Following Treatment for Adolecent Depression) was funded by grant R01 MH070494 from the National Institute of Mental Health to John Curry, Ph.D. We are indebted to Benedetto Vitiello, M.D. who coordinated administration of SOFTAD at NIMH. We thank participants and the site staff who recruited them, including Margaret Price, Stephanie Frank, and Sue Baab. We acknowledge the many contributions of the late Dr. Elizabeth Weller, a dedicated clinical scientist.

Study 52 (GenRED II)

Data and biomaterials in this release were collected in six projects that participated in the National Institute of Mental Health (NIMH) Genetics of Recurrent Early-Onset Depression (GenRED) project (1999-2009). The Principal Investigators and Co-Investigators were: New York State Psychiatric Institute, New York, NY, R01 MH 060912, Myrna M. Weissman, Ph.D.; Johns Hopkins University, Baltimore, MD, R01 MH059552, J. Raymond DePaulo, M.D., and James B. Potash, M.D., M.P.H.; University of Pennsylvania, Philadelphia, PA (1999-2005), and Stanford University (2006-2009), R01 MH61686, Douglas F. Levinson, M.D. (GenRED coordinator); University of Iowa, Iowa City, IW, R01 MH059542e, Raymond R. Crowe, M.D., and William H. Coryell, M.D.; Rush University Medical Center, Chicago, IL, R01 MH059541-05, William A. Scheftner, M.D.; and University of Pittsburgh, Pittsburgh, PA (1999-2003), R01 MH060866, George S. Zubenko, M.D., Ph.D., and Wendy N. Zubenko, Ed.D., R.N., C.S.

Study 73 (CO-MED)

Data used in the preparation of this article were obtained from the limited access datasets distributed from the NIH-supported "Combing Medications to Enhance Depression Outcomes" (CO-MED). This is a multisite, clinical trial of persons with depression comparing the effectiveness of randomly assigned medication treatment. The study was supported by NIMH Contract # N01 MH090003-02 to the University of Texas Soutwestern Medical Center. The ClinicalTrials.gov identifier is NCT00590863.

Study 83

Data and biomaterials collected for project "Incomplete Response in Late Life Depression: Getting to Remission (IRL GREY)". This project was supported by ClinicalTrials.gov Identifier: NCT00892047 and 5R01MH083660-05 from the National Institute of Mental Health (NIMH). Principal Investigators are: Charles F. Reynolds, M.D., University of Pittsburgh (Responsible PI); Eric Lenze, M.D., Washington University School of Medicine, St. Louis; and Benoit Mulsant, M.D., University of Toronto.

Study 84

NIMH Study 84 (Site 276) was funded by two independent NIMH grants. The principal investigators for the Emory CIDAR center grant were supported by funding from the National Institute for Mental Health grant P50MH077083 (Helen Mayberg). Additional funding was obtained for long-term follow-up of study participants via R01MH080880 (W. Edward Craighead). Additional Emory investigators who contributed to this study were Boadie Dunlop, Elisabeth Binder (Emory/Max Planck Institute Munich), Joseph Cubells, Xiaoping Hu, Mary Kelley, Clint Kilts (now University of Arkansas for Medical Sciences), Becky Kinkead, Michael Owens, Drew Westen, Thaddeus Pace (now University of Arizona), Charles B. Nemeroff (now University of Miami), and James Ritchie.

Study 88

Data was provided by Dr. Douglas F. Levinson. We gratefully acknowledge the resources were supported by National Institutes of Health/National Institute of Mental Health grants 5RC2MH089916 (PI: Douglas F. Levinson, M.D.; Co-investigators: Myrna M. Weissman, Ph.D., James B. Potash, M.D., MPH, Daphne Koller, Ph.D., and Alexander E. Urban, Ph.D.) and 3R01MH090941 (Co-investigator: Daphne Koller, Ph.D.).

Study 108

Data and biomaterials were collected as part of the National Institutes of Health-funded study 'Sustaining Remission of Psychotic Depression' (5U01MH062446, 5U01MH062518, and 5U01MH062624). Study sites were Weill Medical College of Cornell University and New York Presbyterian Hospital, Westchester Division, NY (PIs: Drs. Barnett Meyers and George Alexopoulos); the University of Massachusetts Medical School and UMass Memorial Health Care, Worcester, MA (PI: Dr. Anthony Rothschild); Western Psychiatric Institute and Clinic, Department of Psychiatry, University of Pittsburgh School of Medicine, Pittsburgh, PA (PI: Dr. Ellen Whyte); and the Departments of Psychiatry, University of Toronto and University Health Network, Toronto, Canada (PI: Dr. Alastair Flint). The investigators are very grateful to the patients who participated in and contributed to the study.

Study 61

Clinial Studies of Human Anxiety Disorders from Program Project Grant P01MH60970; Myrna M. Weissman, Ph.D. (PI), Abby J. Fyer, M.D., and Susan E. Hodge, Ph.D. (Columbia University, New York State Psychiatric Institute), and T. Conrad Gilliam, Ph.D. (University of Chicago).

Study 62

Molecular Genetics Studies of Fear and Anxiety from Program Project Grant P01MH60970; T. Conrad Gilliam, Ph.D. (PI) (University of Chicago), Abby J. Fyer, M.D., Michael Rogan, Ph.D., and Myrna M. Weissman, Ph.D. (Columbia University College of Physicians and Surgeons), and Christian Grillon, Ph.D. (NIMH).

Study 92

Data and biomaterials in Study 92 were collected as part of a longitudinal study of epigenetics of schizophrenia, supported by National Institutes of Mental Health (NIMH) grants RC2MH089859 and RC2MH089973 to Vishwajit L. Nimgaonkar, M.D., Ph.D., University of Pittsburgh and Raquel Gur, M.D., Ph.D., University of Pennsylvania, respectively. This project was part of a network of three NIMH-supported Consortia: The 8-site Consortium on the Genetics of Schizophrenia (COGS); the 3-site Multiplex-Multigenerational Investigation (MGI); and the 8-site Project among African-Americans to Explore Risks for Schizophrenia (PAARTNERS). The consortium was complemented by investigators from Johns Hopkins University (PI: A. Feinberg, M.D., Ph.D.), Rutgers University (D. Fugman, Ph.D.), and the Southwest Foundation for Biomedical Research (PI: L. Almasy, Ph.D.). The study coordinators were Sue Clifton (University of Pittsburgh) and Amy Cassidy (University of Pennsylvania). The data managers were Joel Wood (University of Pittsburgh) and Kosha Ruparel (University of Pennsylvania).

Study 101

Data and biomaterials for NIMH Study 101 were collected as part of the Pharmacogenomics of Mood Stabilizer Response in Bipolar Disorder supported by NIMH grant U01MH092758-01. The principal investigator is Dr. John R Kelsoe (University of California, San Diego).

Study 115

Data and biomaterials collection were supported by the National Institutes of Health. The Principal Investigator of NIH grant DP1MH099904 was Dr. Ricardo Dolmetsch and the Co-Investigator was Dr. Joachim Hallmayer. The Principal Investigators of NIH grant R33MH087898 were Dr. Joachim Hallmayer and Dr. Ricardo Dolmetsch. Additionally, Dr. Hallmayer received supplementary funding for NIH grant R33MH087898 to obtain biomaterials, diagnostic assessments and other data from subjects with Phelan-McDermid Syndrome Foundation and their families. Dr Hallmayer supervised the diagnostic data collection on all projects. The collection of data and biomaterials would not have been possible without the generous help of the Phelan-McDermid Syndrome Foundation. Staff of the foundation offered invaluable assistance, support and guidance. Deepest gratitude is also due to the families and individuals with Phelan-McDermid Syndrome who were our partners in this research.

Study 116

Data and biomaterials for NIMH Study 116 were collected as part of the study “Integrated Approach to the Neurobiology of Autism Spectrum Disorders, Tourette Syndrome and Spinocerebellar Ataxia”, supported by NIMH grants R01MH109648, R21/ R33 MH087879, R01MH089176 and Simons Foundation (Awards No. 137055; 399558 and 632742). The principal investigator is Dr. Flora Vaccarino, Yale School of Medicine, Child Study Center.

Study 117

We have generated induced pluripotent stem cell (iPSC) lines from patients with Fragile X Syndrome in order to study the neural development aspects of autism. Fragile X fibroblasts were obtained from Dr. Philip Schwartz who has recently launched an NIH-sponsored program to generate fibroblast and iPSC lines from patients with autism spectrum disorder as a resource for the research community.

The collection of data and biomaterials for NIMH Study 117 was supported by the National Institutes of Health grant number R33MH087925 entitled "Autism iPSCs for Studying Function and Dysfunction in Human Neural Development" to Jeanne F. Loring, Ph.D. (The Scripps Research Institute). Biospecimen collection was coordinated by Philip Schwartz, Ph.D. (Children's Hospital of Orange County) and Randi Hagerman, M.D., (University of California - Davis). Subjects enrolled in the study were diagnosed using the Autism Diagnostic Interview-Revised (ADI-R) and the Autism Diagnostic Observation Schedule (ADOS). The induced pluripotent stem cells were generated in Jeanne Loring's laboratory by Michael Boland, Ph.D. (RSRI).

Study 125

Data and biomaterials generated in Study 125/Site 393 were funded by an NIMH grant to Dr. Herb Lachman (MH087840: Analysis of Glutamatergic Neurons Derived from Patient-Specific iPS Cells). The co-investigators on this grant included Dr. Deyou Zheng and Dr. Reed Carroll, both from the Albert Einstein College of Medicine. Patients and controls were recruited at the Albert Einstein College of Medicine and at the Child Psychiatry Branch, NIMH, directed by Dr. Judith L. Rapoport. We want to thank participating families and Dr. Robert J. Shprintzen, Ph.D., President and Chairman of the board of The Virtual Center for Velo-Cardio-Facial-Syndrome, Inc., for patient referrals at the Einstein site.

Study 127

Data and biomaterials generated in NIMH Study 127/Site 717 were funded by a grant to Dr. Chang-Gyu Hahn (Target Identification and Validation for Negative Symptoms and Social Cognition in Schizophrenia: A Translational Study: funded by Pfizer via University of Pennsylvania – Pfizer collaborative alliance). The co-investigators and collaborators on this grant included Edward Brodkin, M.D. (Co-PI), Karin Borgmann-Winter, M.D. (Collaborator), Bruce Turetsky, M.D. (Collaborator) and Paul Moberg, Ph.D. (Collaborator), all from the University of Pennsylvania. Patients and controls were recruited at the University of Pennsylvania directed by Dr. Raquel Gur. We want to thank participating families and all clinical research staff contributing to this study.

Study 130

Data and biomaterials were collected as part of an in vivo and in vitro study of simvastatin as a modulator of Wnt/GSK3 signaling, supported by National Institutes of Health grant R21MH093958. This study is based at Massachusetts General Hospital. The Principal Investigators were Roy H. Perlis, M.D., MSc and Stephen J. Haggarty, Ph.D.

Study 131

Investigators using these cells should cite "Yoshimizu T, Pan JQ, Mungenast AE, Madison JM, Su S, Ketterman J, Ongur D, McPhie D, Cohen B, Perlis R, Tsai LH. Functional implications of a psychiatric risk variant within CACNA1C in induced human neurons. Mol Psychiatry 2015 Feb; 20(2):162-169. PMID: 25403839; PMCID: PMC4394050" and acknowledge NIMH R01MH091115 and P50MH106933. The principal investigators were Li-Huei Tsai, Ph.D., Bruce Cohen, M.D., and Roy Perlis, M.D.

Study 132

The clinical data and collection of biomaterials for the genetics of childhood-onset schizophrenia has been funded through the intramural program at the National Institute of Mental Health, NIH. The Child Psychiatry Branch/NIMH in Bethesda, Maryland recruited all patients and controls. Principal Investigator is Dr. Judith L. Rapoport. The entire team at the Child Psychiatry Branch extends our gratitude to our patients and their families for making our research possible.

Study 136

The data and collection of biomaterials and derivation of induced pluripotent stem cells have been supported by the National Institutes of Health Grant RO1. The principal investigators and co-investigators of this study were: Stanford University: Joachim Hallmayer, MD; Ruth O’Hara PhD; Jonathan A Bernstein, MD; PhD, Wendy Froehlich, MD; Sergiu Pasca MD; Alexander Urban, PhD; University of California Los Angeles: Carrie Bearden, PhD; Katrina Dipple, MD; Daniel Geschwind, MD, PhD; University of California San Diego: Wesley Thompson, PhD. We would especially like to thank the participating families for their generous contribution of time and effort in support of this study. We would also like to thank the study managers, clinical interviewers, and postdoctoral students for their efforts.

Study 143

This work was supported by grants from the California Institute for Regenerative Medicine (CIRM) TR4-06747, the National Institutes of Health through the NIH Director's New Innovator Award Program (1-DP2-OD006495-01), an R21 MH093954 from NIMH; and a NARSAD Independent Investigator award. The principal investigators are Drs. Alysson R. Muotri and Vikas Duvvuri at UCSD. We are most grateful for the families, without whose participation, this research would not have been possible.

Study 144

This work was supported by grants from the California Institute for Regenerative Medicine (CIRM) TR2-01814 and TR4-06747, the National Institutes of Health through the NIH Director's New Innovator Award Program (1-DP2-OD006495-01), an R01 MH100175-01 from NIMH and from the International Rett Syndrome Foundation (IRSF grant # 2915); a NARSAD Independent Investigator Grant, an NIMH Autism Center of Excellence Program Project; the work was supported by the Helmsley Trust, the JPB Foundation, the Engmann Foundation, a grant from the CDMRP Autism Research Program; a KL2 CTRI (KL2TR00099) and a Postdoctoral Translational Fellowship from Autism Speaks. The principal investigators are Drs. Alysson R. Muotri (UCSD); Eric Courchesne (UCSD); Alan Percy (University of Birmingham); Fred H. Gage (Salk); Daniel Geschwind (UCLA) and Anthony Wynshaw-Boris (Case Western Reserve University). We are most grateful for the families, without whose participation, this research would not have been possible.

Study 146

Data and biomaterials for NIMH Study 146 were collected as part of Induced neuronal cells: A novel approach to study neuropsychiatric disorders, supported by NIMH grant R01MH092931. The principal investigators are Marius Wernig and Tom Südhof, Stanford University.

Study 158

Data and biomaterials were collected as part of a proof-of-concept study that schizophrenia could be modeled in vitro using human induced pluripotent stem cells. This study was based at the Salk Institute for Biological Studies and later at Icahn School of Medicine at Mount Sinai. The Principal Investigators were Fred H. Gage, Ph.D., and Kristen J. Brennand, Ph.D. Co-investigators included Anthony Simone, Jessica Jou, Chelsea Gelboin-Burkhart, Ngoc Tran N, Sarah Sangar, Yan Li, Yangling Mu, Gong Chen and Diana Yu (Salk Institute for Biological Studies). Study collaborators included Shane McCarthy and Jonathan Sebat. The early characterization of these hiPSCs occurred in the Gage Laboratory, and was partially funded by CIRM Grant RL1-00649-1, The Lookout and Mathers Foundation, the Helmsley Foundation as well as Sanofi-Aventis. Subsequent studies occurred in the Brennand Laboratory, and were supported by the Brain and Behavior Research Foundation and the New York Stem Cell Foundation. The investigators are very grateful to the patients who participated in this study.

Study 159

Data and biomaterials for NIMH Study 159 were collected as part of “A chimeric brain model to study human neurological diseases”, supported by NIMH grant # R21MH10777 and The International Foundation for CDKL5 Research (IFCR). The principal investigator is Alysson R Muotri/University of California San Diego.

Study 160

Data and biomaterials for NIMH Study 03-M-0035 were collected as part of Screening for Childhood-Onset Psychotic Disorders. The principal investigator was Judith Rapoport, M.D./Child Psychiatry Branch/NIMH. The ClinicalTrials.gov identifier is NCT00049738 (Terminated).

Study 163

Study participants were consented and enrolled, data and biomaterials were collected, and cell lines were generated at Massachusetts General Hospital as part of an NIMH/NHGRI Center of Excellence in Genomic Science grant (P50MH106933). The Neurobank PI is Roy Perlis, M.D., MSc; key MGH co-investigators included Hannah Brown, M.D., J. Niels Rosenquist, M.D., Ph.D., Steven Sheridan, Ph.D., and Jennifer Wang, Ph.D. The CEGS co-PIs are Isaac Kohane, M.D., Ph.D. and Roy H. Perlis, M.D., MSc.

Study 165

The work to develop the iPS cells developed in this project was supported by the National Alliance for Research on Schizophrenia and Depression, NIH (5T32MH15330, 5R33MH087874, and 5R21MH086703), Stanley Medical Research Institute, Maryland Stem Cell Research Fund, the International Mental Health Research Organization, and the American Medicial Research Foundation.

The investigators involved were C-H Chiang, Y Su, Z Wen, N Yoritomo, CA Ross, RL Margolis, H Song, G-I Ming, NA Sachs, A Sawa, SE Holmes, and LE DeLisi. At the time of the investigation, all authors were affiliated with the Johns Hopkins University School of Medicine, with the exception of LE DeLisi who was then at New York University.

The DISC1 family was originally ascertained by LE DeLisi. Identification of the mutation, reexaminiation of the family, and skin biopsies were performed by N Sachs, A Sawa, SE Holmes, N Yoritomo, CA Ross, and RL Margolis. Stem cell generation and characterization was performed by C-H Chiang, Y Su, Z Wen, H Song, and G-I Ming.

Study 166

Data and biomaterials for NIMH Study 166 were collected as part of Juvenile Onset Schizophrenia iPSCs, supported by NIMH grant R21/R33MH087877. The principal investigators are Paul Tesar, Ph.D., Robert H. Miller, Ph.d, and Robert L. Findling, M.D.

Study 175

Data and biomaterials for NIMH Study 175 were collected as part of the study “Integrated Approach to the Neurobiology of Autism Spectrum Disorders, Tourette Syndrome and Spinocerebellar Ataxia”, supported by NIMH grants R01MH109648. The principal investigator is Dr. Flora Vaccarino, Yale School of Medicine, Child Study Center.

Study 182

Data and biomaterials for NIMH Study 182 were collected as part of study entitled Systematic Functional Interpretation of Regulatory Variants in Schizophrenia, supported by NIMH grants R01MH106575 and R21MH102685. The principal investigator is Jubao Duan at NorthShore University HealthSystem and the University of Chicago. The source cells of these iPSC lines were from NIMH Studies 6 and 29 (Molecular Genetics of Schizophrenia).

Study 184

Data and biomaterials for NIMH Study 184 were collected as part of the iPSC-based platform development for major psychiatric disorder modeling and discovery supported by NIMH grant U19MH106434. The principal investigators are Dr. Fred Gage (Salk Institute) and Dr. Hongjun Song (University of Pennsylvania).

Study 200

Data and biomaterials for NIMH Study #200 were collected as part of Mechanisms of Circuit Failure and Treatments in Patient-Derived Neurons in Autism, supported by NIMH grant 5R01MH105442-06. The principal investigator is Eric M. Morrow, MD, PhD, Brown University.

Study 201

Data and biomaterials for NIMH Study 201 were collected as part of the study “Biological substrates of risk and resilience using patient-derived stem cells”, supported by NIMH grant P50 MH115716-03. The principal investigator is Dr. Katarzyna Chawarska, Ph.D., and the collaborating project co-Investigator is Dr. Flora Vaccarino, M.D., Yale School of Medicine, Child Study Center.”

Study 78

Funding was obtained from the Netherlands Organisation for Scientific Research (NOW):

• Twin family database for behavior genomics studies (NOW 480-04-004);
• NTR BioBank for large scale genetic epidemiological studies (NOW 91109032);
• CMSB: Center for Medical Systems Biology (NOW Genomics); • Spinozapremie (SPI 56-464-14192)

And from:

• VU University Faculty of Psychology and Education;
• VU University Centre for Neurogenomics and Cognitive Research (CNCR);
• European Science Foundation (ESF): Genomewide analyses of European twin and population cohorts (EU/QLRT-2001-01254);
• A collaborative study of the genetics of DZ twinning (NIH R01D0042157-01A);
• Rutgers University Cell and DNA Repository cooperative agreement (NIMH U24 MH068457-06)

Investigators and co-investigators are: VU University Amsterdam: Dorret I. Boomsma, Eco JC de Geus, Gonneke Willemsen, Jouke-Jan Hottenga, Jacqueline Vink, August B. Smit; VU Medical Center, Amsterdam: Brenda Penninx, Jan Smit, Patrizia Rizzu; Rutgers University (USA): Andy I. Brooks, Douglas A. Fugman, Jay A. Tischfield; Good Biomarker Sciences, Leiden: Kees Kluft, Piet Meijer; Queensland Institute of Medical Research (Australia): Grant W. Montgomery; Leiden University Medical Centre: H. Eka D. Suchiman, P. Eline Slagboom.

Study 16

The OCD Collaborative Genetics Study (OCGS) is an ongoing collaboration among investigators at six sites in the United States and was funded by NIMH Grant Number 2R01MH050214-05A2. The study includes the following collaborative centers: Johns Hopkins University, Gerald Nestadt, M.B.B.Ch., M.P.H. (Principal Investigator); Brown University, Benjamin Greenberg, M.D., Ph.D.; Columbia University, Abby Fyer, M.D.; Harvard/Massachusetts General Hospital, Scott Rauch, M.D.; National Institute of Mental Health (NIMH), Dennis Murphy, M.D.; and University of California at Los Angeles (UCLA), James McCracken, M.D.

Study 66

The OCD Collaborative Genetics Association Study (OCGAS) is a collaborative research study including investigators at six sites in the United States and was funded by NIMH Grants R01 MH071507, R01 MH079494, R01 MH079487, R01 MH079489, and R01 MH079494. The study includes the following collaborative centers: Johns Hopkins University [Gerald Nestadt, MB.BCh., M.P.H. (PI), Joseph Bienvenu, M.D., Ph.D., Bernadette Cullen, MB.BCh., Fernado Goes, M.D., Marco Grados, M.D., M.P.H., Kung-Yee Liang, Ph.D., Brion Maher, Ph.D., Graham Redgrave, M.D., Mark Riddle, M.D., Jack Samuels, Ph.D., Yin Yao, Ph.D. (NIMH)]; Brown University/Butler Hospital [Benjamin D. Greenberg, M.D., Ph.D. (PI); Nicole McLaughlin, Ph.D.; Steven A. Rasmussen, M.D.; Sarah Garnaat, Ph.D.]; Columbia University [Abby Fyer, M.D. (PI), Lindsey Kupferman, Ph.D.]; Harvard/Massachusetts General Hospital [Dan Geller, M.D. (PI), Evelyn Stewart, M.D., David Pauls, Ph.D.]; National Institute of Mental Health (NIMH) [Dennis Murphy, M.D. (PI)]; University of California at Los Angeles (UCLA) [James McCracken, M.D. (PI), John C. Piacentini, Ph.D.]; and University of Southern California [James Knowles, M.D., Ph.D. (PI)]. Analytical work was also conducted at Harvard University [Christoph Lange, Ph.D., Manuel Mattheisen, M.D., Ph.D.].

We are indebted to the participating families for their contribution of time and effort in support of this study. The authors also wish to thank the study managers and clinical interviewers for their efforts in participant recruitment and clinical assessments.

Study 93 (Compulsive Hoarding)

The collection of data and blood for genetic studies was supported by NIMH grant R21 MH087748 to Carol A. Mathews, M.D. Co-investigators included Daniel Mathalon, M.D., Ph.D., R. Scott Mackin, Ph.D., and Kevin Delucchi, Ph.D., all from UCSF. This data could not have been collected without the help of the participants and their families.

Study 110

Data and biomaterials for NIMH study (2011P000875) were collected as part of the study entitled, D-cycloserine Augmentation of Cognitive Behavioral Therapy (CBT) for Pediatric Obsessive-compulsive Disorder (OCD), supported by NIMH grants [1R01MH093402; 1R01MH093381]. The principal investigator(s) is/are Dr. Daniel Geller and Dr. Eric Storch, from the Harvard Medical School and the Baylor College of Medicine, respectively. The ClinicalTrials.gov identifier are NCT01404208 and NCT01411774.

Study 119

Data and biomaterials for NIMH 119 were collected as part of a study entitled "Attaining and Maintaining Wellness in OCD" that examined whether cognitive behavioral therapy can enable patients with obsessive compulsive disorder (OCD) to discontinue from serotonin reuptake inhibitors and which OCD patients were most likely to benefit from this treatment strategy. This study was supported by NIMH (R01 MH04536 [PI: Dr. Helen Blair Simpson] and R01 MH MH45404 [PI: Dr. Edna Foa] as well as by the New York State Office of Mental Health. The ClinicalTrials.gov identifier is NCT01686087.

Study 134 (Trichotillomania)

This study was performed using data from the Genetics Study of Trichotillomania (PI: Nancy Keuthen, Ph.D.) funded by the Trichotillomania Learning Center and the Family Study of Trichotillomania (PIs: Nancy Kuethen, Ph.D.; David Pauls, Ph.D.) funded by the Greater Kansas City Foundation. Both studies were conducted at Massachusetts General Hospital, Boston, MA.

Study 138

Identification of rare variants of OCD is a collaborative research study including investigators at Johns Hopkins University and Columbia University, and funded by NIMH Grant R01MH097993. The study included the following coinvestigators: Gerald Nestadt, MB, BCh, MPH (Principal Investigator); Fernando Goes, MD; Marco Grados, MD, MPH; Brion Maher, PhD; Paul Nestadt, MD; Jack Samuels, PhD; David Goldstein, PhD; and Matt Halvorsen, PhD. The investigators thank the study managers and clinical interviewers for their efforts in participant recruitment and clinical assessments. We also are indebted to the participating families for their contribution of time and effort in support of the study.

Study 152

Data and biomaterials for NIMH Study 152 were collected as part of Control and Reward Circuits as Targets for Repetitive Thoughts and Behaviors, a project that used different brain imaging methods to investigate how dysfunction in brain circuits underlying cognitive control and reward processing might contribute to pathological repetitive thoughts and behaviors, using obsessive-compulsive disorder (OCD) as a model system. This study was supported by NIMH grant(s) [R01MH104648-01 and R01MH104648-01S1] and by the New York State Office of Mental Health. The principal investigators are Drs. Rachel Marsh and Helen Blair Simpson from Columbia University & the New York State Psychiatric Institute. The ClinicalTrials.gov identifier is NCT02221518.

Study 115

Data and biomaterials collection were supported by the National Institutes of Health. The Principal Investigator of NIH grant DP1MH099904 was Dr. Ricardo Dolmetsch and the Co-Investigator was Dr. Joachim Hallmayer. The Principal Investigators of NIH grant R33MH087898 were Dr. Joachim Hallmayer and Dr. Ricardo Dolmetsch. Additionally, Dr. Hallmayer received supplementary funding for NIH grant R33MH087898 to obtain biomaterials, diagnostic assessments and other data from subjects with Phelan-McDermid Syndrome Foundation and their families. Dr Hallmayer supervised the diagnostic data collection on all projects. The collection of data and biomaterials would not have been possible without the generous help of the Phelan-McDermid Syndrome Foundation. Staff of the foundation offered invaluable assistance, support and guidance. Deepest gratitude is also due to the families and individuals with Phelan-McDermid Syndrome who were our partners in this research.

Ilyas Singec generated new iPSC lines from fibroblast cell lines, which in turn were derived from skin punches obtained from 22 Phelan-McDermid syndrome and 13 controls from family members. All fibroblast cell lines were already part of the NIMH Repository study 115 and managed by Rutgers University/RUCDR Infinite Biologics. IBX/Sampled reprogrammed the fibroblasts to iPSC lines under contract. Singec’s laboratory’s immediate use of the iPSC lines was for projects related to the NIH Helping to End Addiction Long-term (HEAL) Initiative.

Study 87

Behavioral and biological data were collected as part of a study evaluating a CRF-1 antagonist (GSK561679) vs. placebo for the treatment of Post-traumatic Stress Disorder (PTSD) in women. The RCT, NCT01018992, was registered at clinictrial.gov prior to onset and was conducted at the following 4 academic medical centers: (1) Emory University, Atlanta, Georgia, United States; (2) San Francisco VA Medical Center, University of California San Francisco, San Francisco, California, United States; (3) Mount Sinai School of Medicine, New York, New York, United States; (4) Baylor College of Medicine, Houston, Texas, United States.

Emory Univeristy acted as the coordinating site and received the initital funding. Funding for this project was provided by the National Institute of Mental Health grant U19MH069056. The Principal Investigator for the overall grant was Helen Mayberg, M.D. from the Emory University School of Medicine, Departments of Psychiatry and Neurology, Atlanta, GA. The Principal Investigator for Project 5 of the grant, which was the clinical trial evaluating GSK561679 for PTSD, was Boadie Dunlop, M.D. (Emory, Department of Psychiatry). The project's co-investigators included Barbara Rothbaum, Ph.D. (Emory, Department of Psychiatry), Elisabeth Binder, M.D., Ph.D. (Emory, Department of Psychiatry), Erica Duncan, M.D. (Emory, Department of Psychiatry and VAMC Atlanta), Philip Harvey, Ph.D. (now: University of Miami, Department of Psychiatry), Tanja Jovanovic, Ph.D. (Emory, Department of Psychiatry), Mary Kelley, Ph.D. (Emory, Rollins School of Public Health), Becky Kinkead, Ph.D. (Emory, Department of Psychiatry), Michael Kutner, Ph.D. (Emory, Rollins School of Public Heath), and Charles B. Nemeroff, M.D., Ph.D. (now: University of Miami, Department of Psychiatry).

Data were generated as part of the PsychENCODE Consortium. Visit 10.7303/syn26365932 for a complete list of grants and PIs.

Study 120

Data were provided by the Tennessee Twin Study (TTS) from Principal Investigators David H. Zald, Ph.D. (Vanderbilt University) and Benjamin B. Lahey, Ph.D. (University of Chicago). Additional co-investigators include Bennett Landman and Neil Woodward at Vanderbilt University, David Herda at NORC at the University of Chicago, and Paul Rathouz at the University of Wisconsin. The study was funded by the National Institute of Mental Health grant 5R01MH098098 RDoC.

Study 70

Data and biomaterials for NIMH Study 70 were collected as part of the Consortium for Neuropsychiatric Phenomics (NIH Roadmap for Medical Research grants/Principal Investigators: UL1DE019580/Robert Bilder; RL1MH083268/Nelson Freimer; RL1MH083269/Tyrone Cannon; RL1DA024853/Edythe London; RL1MH083270/David Jentsch, RL1LM009833/D. Stott Parker; PL1MH083271/Robert Bilder; and PL1NS062410/Chris Evans). The project was completed at UCLA.

Study 142

Data and biomaterials for NIMH Study 142 were collected as part of Psychosis and Affective Research Domains and Intermediate Phenotypes (PARDIP), supported by NIMH grant R01MH096913-01A1. The principal investigators are Dr. Godfrey Pearlson (Yale University), Dr. Carol Tamminga (University of Texas Southwestern), and Dr. Matcheri Keshavan (Harvard University). The ClinicalTrials.gov identifier is NCT02218853.

Study 147

Data and biomaterials for NIMH Study 147 were collected as part of the Longitudinal Family/Molecular Genetic Study to Validate Research Domain Criteria, supported by NIMH grants: R01 MH 101519; R01 MH 101519-01A1S1; R01 MH 101519-02S1; R01 MH 101519-03S1. The principal investigators are Stephen Glatt and Stephen Faraone, Norton College of Medicine at SUNY Upstate Medical University. The ClinicalTrials.gov identifier is NCT02415647.

Study 154

Data and biomaterials for NIMH Study 154 were collected as part of FAST MAS KOR Phase 2a, supported by NIMH contract HHSN2712011000061. This contract was awarded to Dr. Andrew Krystal (University of California, San Francisco) as overall PI. There were 6 principal investigators who collected data at their respective sites: 1) Dr. Gerard Sanacora (Yale University), 2) Dr. John Nurnberger (Indiana University), 3) Dr. Sarah Lisanby (Duke University, NIMH), 4) Dr. Sanjay Matthew (Baylor University), 5) Dr. James Murrough (Mt. Sinai University), 6) Dr. Joe Calabrese (Case Western Reserve University.

Study 171

Data and biomaterials for NIMH Study 171 were collected as part of Genetic Contributions of Negative Valence Systems to Internalizing Pathways, supported by NIMH grant R01MH101518. The principal investigator is Roxann Roberson-Nay, Virginia Commonwealth University.

SZ Dataset 29 (Sweden Study)

The collection of data and biomaterials for this study was supported by funding provided by the NIMH (R01 MH077139 to Patrick F. Sullivan and R01 MH095034 to Pamela Sklar), the Stanley Center for Psychiatric Research, the Sylvan Herman Foundation, the Friedman Brain Institute at the Mount Sinai School of Medicine, the Karolinska Institutet, Karolinska University Hospital, the Swedish Research Council, the Swedish County Council, the Söderström Königska Foundation, and the Netherlands Scientific Organization (NWO 645-000-003). Co-principal investigators involved in this study were Pamela Sklar (Mount Sinai School of Medicine), Christina M. Hultman (Karolinska Institutet, Stockholm, Sweden), and Patrick F. Sullivan (University of North Carolina and Karolinska Institutet, Stockholm, Sweden). We are deeply grateful for the participation of all subjects contributing to this research and to the collection team that worked to recruit them.

SZ Dataset 30

SZ Dataset 30 used biomaterials from the NIMH Schizophrenia Genetics Initiative Release 1.0 and Release 3.0, the NIMH Genetics Initiative Control Database Release 3.0, and the Environmental Catchment Area ADHD Study. The collection of data and biomaterials for this study was supported by funding provided by NIMH grant U01 MH046276 to C. Robert Cloninger, M.D. (Washington University School of Medicine, St. Louis, MO). The study was funded by the Pfizer Fellowship in Biological Psychiatry, a NARSAD/Sidney R. Baer, Jr. Foundation Young Investigator Award, the Institute of Mental Health Research, the State of Arizona Department of Health Services and Biomedical Research Collaborative, and NIMH grants R01MH097803, R01MH083823, R01MH067921. Principal Investigators were Amelia Gallitano, M.D., Ph.D. (University of Arizona College of Medicine, Phoenix, AR), Matthew Huentelman, Ph.D. (Translational Genomics Research Institute, Phoenix, AR), and Richard Todd, Ph.D., M.D. (Washington University School of Medicine, St. Louis, MO).

SZ Dataset 33 (NIMH Study 90)

Drs. Riley, Corvin, Kendler, and Gill sincerely thank all participants who contributed to this study and all staff who facilitated their involvement. Funding for this study was provided by the Wellcome Trust Case Control Consortium 2 project (085475/B/08/Z and 085475/Z/08/Z), the Wellcome Trust (072894/Z/03/Z, 090532/Z/09/Z and 075491/Z/04/B), The US National Institute of Mental Health (MH041953 and MH083094), and Science Foundation Ireland (08/IN.1/B1916). P. Donnelly was supported in part by a Wolfson-Royal Society Merit Award. We also thank S. Bertrand, J. Bryant, S.L. Clark, J.S. Conquer, T. Dibling, J.C. Eldred, S. Gamble, C. Hind, A. Wilk, C.R. Stribling, and S. Taylor of the Wellcome Trust Sanger Institute's Sample and Genotyping Facilities for technical assistance. We thank S. Leslie for support with the HLA imputation analysis. We acknowledge use of the Irish GeneBank sample, the British 1958 Birth Cohort DNA collection funded by the Medical Research Council (grant G0000934) and the Wellcome Trust (grant 068545/Z/02) and of the UK National Blood Service controls funded by the Wellcome Trust.

Study SZ 0

Data and biomaterials were collected in three projects that participated in the National Institute of Mental Health (NIMH) Schizophrenia Genetics Initiative. From 1991-97, the Principal Investigators and Co-Investigators were: Harvard University, Boston, MA, U01 MH46318, Ming T. Tsuang, M.D., Ph.D., D.Sc., Stephen Faraone, Ph.D., and John Pepple, Ph.D.; Washington University, St. Louis, MO, U01 MH46276, C. Robert Cloninger, M.D., Theodore Reich, M.D., and Dragan Svrakic, M.D.; Columbia University, New York, NY U01 MH46289, Charles Kaufmann, M.D., Dolores Malaspina, M.D., and Jill Harkavy Friedman, Ph.D.

Study 3

The data from the Han Chinese Schizophrenia Linkage Study were collected with funding from grant R01 MH59624 from the US National Institute of Mental Health to Ming T. Tsuang, M.D., Ph.D. (Principal Investigator). Other participants in the US were Stephen V. Faraone, Ph.D. (Co-Principal Investigator), Shao Zhu, M.D. (Project Coordinator) and Xingjia Cui, M.D. (Project Coordinator).

The project leaders in Taiwan were Hai-Gwo Hwu, M.D. (Taiwan Principal Investigator, National Taiwan University Hospital), Wei J. Chen, M.D. Sci.D. (Taiwan Co- Principal Investigator). Other participants in Taiwan were: Chih-Min Liu, M.D., Shih-Kai Liu, M.D., Ming-Hsien Shieh, M.D., Tzung-Jeng Hwang, M.D., M.P.H., Ming-Ming Tsuang, M.D., Wen Chen OuYang, M.D., Ph.D., Chun-Ying Chen, M.D., Chwen-Cheng Chen, M.D., Ph.D., Jin-Jia Lin, M.D., Frank Huang-Chih Chou, M.D., Ph.D., Ching-Mo Chueh, M.D., Wei-Ming Liu, M.D., Chiao-Chicy Chen, M.D., Jia-Jiu Lo, M.D., Jia-Fu Lee, M.D., Ph.D. Seng Shen, M.D., Yung Feng, M.D., Shin-Pin Lin, M.D, Shi-Chin Guo, M.D, Ming-Cheng Kuo, M.D., Liang-Jen Chuo, M.D., Chih-Pin Lu, M.D., Deng-Yi Chen, M.D., Huan-Kwang Ferng, M.D., Nan-Ying Chiu, M.D., Wen-Kun Chen, M.D., Tien-Cheng Lee, M.D., Hsin-Pei Tang, M.D., Yih-Dar Lee, M.D., Wu-Shih Wang, M.D., For-Wey Long, M.D., Ph.D., Tiao-Lai Huang, M.D., Jung-Kwang Wen, M.D., Cheng-Sheng Chen, M.D., Wen-Hsiang Huang, M.D., Shu-Yu Yang, M.D., Mei-Hua Hall, Cheng-Hsing Chen, M.D.

The project leaders in the People’s Republic of China were Xiaogang Chen, M.D., Ph.D. (China Principal Investigator, Institute of Mental Heath, Xiang-ya Teaching Hospital, Central South University), and Xingqun Ni, M.D. (Original Principal Investigator, Sun Yat-sen University). Other participants in China were: Liwen Tan, M.D., Ph.D, Liang Zhou, M.D., Ph.D, Jiajun Shi, M.D., Ph.D, Xiaoling He, M.D., Ph.D, Xiogzhao Zhu, M.D., Ph.D, Lingjian Li, M.D., Ph.D, Ming Wang, M.D., Tiansheng Guo, M.D., Xiaqi Shen, M.D., Ph.D., Jinghua Yang, M.D.

Study 6

Data and biomaterials generated in Study 6 were collected by the Molecular Genetics of Schizophrenia, part 1 (MGS1), and funded by collaborative NIMH grants to Evanston Northwestern Healthcare/Northwestern University, Evanston, IL, MH059571, Pablo V. Gejman, M.D. (Collaboration Coordinator; PI), Alan R. Sanders, M.D.; Emory University School of Medicine, Atlanta, GA, MH59587, Farooq Amin, M.D. (PI); University of California, San Francisco, CA, MH60870, William Byerley, M.D. (PI); University of Iowa, Iowa, IA, MH59566, Raymond Crowe, M.D. (PI), Donald Black, M.D.; Washington University, St. Louis, MO, U01, MH060879, C. Robert Cloninger, M.D. (PI); University of Colorado, Denver, CO, MH059565, Robert Freedman, M.D. (PI), Ann Olincy, M.D.; University of Pennsylvania, Philadelphia, PA, MH061675, Douglas Levinson, M.D. (PI), Nancy Buccola, APRN, B.C., M.S.N., New Orleans, Louisiana; University of Queensland, Queensland, Australia, MH059588, Bryan Mowry, M.D. (PI); Mt. Sinai School of Medicine, New York, NY, MH059586, Jeremy Silverman, Ph.D. (PI).

Study 9

Data and biomaterials for the CBDB/NIMH Sibling Study were collected while the responsible investigators were in the Clinical Brain Disorders Branch (Weinberger Lab) of the Intramural Research Program (IRP) of the National Institute of Mental Health (NIMH), which funded the project. The Principal Investigator was Daniel R. Weinberger, M.D., and Co-Investigators were Michael F. Egan, M.D., and Richard E. Straub, Ph.D.

Study 12

Portuguese island families were contributed by Dr. Carlos Pato at the University of Southern California and his staff. This work was sponsored by NIMH grants MH52618 and MH058693.

Study 13

Data and biomaterials used in this research report were collected by the International Neuro-Genetics Association of Spanish America and the United States (INGASU), and funded by a collaborative NIMH grant (Genetics of Schizophrenia in Latino Populations) to Dr. Michael Escamilla (University of Texas Health Science Center at San Antonio) (MH60881) and to Dr. Ricardo Mendoza (University of California at Los Angeles-Harbor)(MH60875). Additional principal investigators who participated in these grants were Dr. Henriette Raventos (University of Costa Rica, San Jose, Costa Rica), Dr. Alfonso Ontiveros (Instituto de Informacion de Investigacion en Salud Mental, Monterrey, Mexico), Dr. Humberto Nicolini (Medical and Family Research Group, Carracci S.C., Mexico City, Mexico), Dr. Rodrigo Munoz (Family Health Centers of San Diego, California), and Dr. Alvaro Jerez (Centro Internacional de Trastornos Afectivos y de la Conducta Adictiva-CITACA, Guatemala). Additional investigators from the University of Texas Health Science Center at San Antonio included Dr. Albana Dassori and Dr. Rolando Medina.

Study 15

The principal investigators of the Neurobehavioral Family Study of Schizophrenia project were Raquel Gur, M.D., Ph.D., Vishwajit Nimgaonkar, Ph.D., and Laura Almasy, Ph.D. This study was supported by grants MH042191, MH063480, and MH061622.

Study 17

The principal investigators of the CATIE (Clinical Antipsychotic Trials of Intervention Effectiveness) trial were Jeffrey A. Lieberman, M.D., T. Scott Stroup, M.D., M.P.H., and Joseph P. McEvoy, M.D. The CATIE trial was funded by a grant from the National Institute of Mental Health (N01 MH900001) along with MH074027 (PI PF Sullivan). Genotyping was funded by Eli Lilly and Company.

Study 22

Study 22 was funded by a collaborative NIMH grant, Project Among African Americans to Explore Risks for Schizophrenia (PAARTNERS). The principal investigators for the PAARTNERS study were supported by funding from the National Institute for Mental Health grant RO1 MH66006 (L. Dianne Bradford, Morehouse School of Medicine), R01 MH66278 (Bernie Devlin, University of Pittsburgh), R01 MH-066049 (Neil Edwards, University of Tennessee at Memphis), R01MH66181-03 (Rodney Go, University of Alabama at Birmingham), R01 MH66121 (Raquel Gur, University of Pennsylvania), R01 MH066005 (Joseph Kwentus, University of Mississippi), R01 MH66050 (Joseph McEvoy, Duke University), R01 MH66263 (Vishwajit Nimgaonkar) and RO 1MH66004 (Alberto Santos, Medical University of South Carolina). Additional investigators who contributed to this study were Robert M. Savage (University of Alabama at Birmingham), Judith O’Jile (University of Mississippi), Trina Allen (Duke University), Monica E. Calkins and Ruben C. Gur (University of Pennsylvania), Muktar H. Aliyu, M.D., Dr.P.H. (Mayo Clinic, College of Medicine, Rochester, MN), and Paul D. Lyons, M.D., Ph.D. (University of Virginia, Department of Neurology, Charlottesville, VA).

Study 23

Data and biomaterials used in Study 23 were collected by the University of Pittsburgh and funded by an NIMH grant (Genetic Susceptibility in Schizophrenia, MH56242) to Dr. Vishwajit Nimgaonkar, M.D., Ph.D. Additional Prinicipal Investigators on this grant include Dr. Smita Deshpande, M.D., Dr. Ram Moanohar, Lohia Hospital, New Delhi, India; and Dr. Michael Owen, M.D., Ph.D., University of Wales College of Medicine, Cardiff, UK.

Study 27 (COGS-1)

Data and biomaterials were collected by the NIMH Consortium on the Genetics of Schizophrenia between 9/2003 - 8/2008 ("COGS-1"). The Principal Investigators and Co-Investigators during this period were: David L. Braff, M.D., Kristin S. Cadenhead, M.D., Monica E. Calkins, Ph.D., Dorcas J. Dobie, M.D., Robert Freedman, M.D., Michael F. Green, Ph.D., Tiffany A. Greenwood, Ph.D., Raquel E. Gur, M.D., Ph.D., Ruben C. Gur, Ph.D., Gregory A. Light, Ph.D., Keith H. Nuechterlein, Ph.D., Ann Olincy, M.D., Allen D. Randant, M.D., Nicholas J. Schork, Ph.D., Larry J. Seidman, Ph.D., Larry J. Siever, M.D., Jeremy M. Silverman, Ph.D., William S. Stone, Ph.D., Catherine A. Sugar, Ph.D., Neal R. Swerdlow, M.D., Ph.D., Debby W. Tsuang, M.D., Ming T. Tsuang, M.D., Ph.D., D.Sc., and Bruce I. Turetsky, M.D. COGS-1 inquiries should be directed to the attention of David Braff, M.D. at dbraff@ucsd.edu. Funding sources: COGS-1 was supported by grants R01MH065571, R01MH065578, R01MH065558, R01MH065588, R01MH065707, R01MH065562, and R01MH065554 from the National Institute of Mental Health. Genotyping services were provided by the Center for Inherited Disease Research (CIDR). CIDR is fully funded through a federal contract from the National Institutes of Health to the Johns Hopkins University, Contract number HHSN268200782096C.

Study 29

Data and biomaterials generated in Study 29 were collected by the Molecular Genetics of Schizophrenia, part 2 (MGS2), and funded by collaborative NIMH grants to Evanston Northwestern Healthcare/Northwestern University, Evanston, IL, MH59571, Pablo V. Gejman, M.D. (Collaboration Coordinator; PI), Alan R. Sanders, M.D.; Stanford University, Palo Alto, CA, MH61675, Douglas F. Levinson M.D. (PI); Louisiana State University, New Orleans, LA, MH67257, Nancy G. Buccola APRN, B.C., M.S.N. (PI); University of Queensland, Brisbane, Queensland, Australia, MH59588, Bryan J. Mowry, M.D. (PI); University of Colorado, Denver, CO, MH59565, Robert Freedman, M.D. (PI), Ann Olincy, M.D.; Emory University School of Medicine, Atlanta, GA, MH59587, Farooq Amin, M.D. (PI); University of Iowa, Iowa, IA, MH59566, Donald W. Black, M.D. (PI), Raymond R. Crowe, M.D.; Mount Sinai School of Medicine, New York, NY, MH59586, Jeremy M. Silverman, Ph.D. (PI); University of California, San Francisco, CA, MH60870, William F. Byerley, M.D. (PI); Washington University, St. Louis, MO, MH60879, C. Robert Cloninger, M.D. (PI).

Study 42

Data and biomaterials used in Study 42 were collected by The Johns Hopkins University and funded by an NIMH grant (A Genome-wide SNP Association Study: Schizophrenia, MH068406) to Dr. Ann Pulver, Sc.D. Co-investigators at Johns Hopkins University included Dr. Gerald Nestadt, M.D., Dr. Kung Yee Liang, Ph.D., Dr. M. Daniele Fallin, Ph.D., Dr. Dimitrios Avramopoulos, M.D., Ph.D., and Dr. David Valle, M.D. Co-investigators also included Dr. Jeremy Silverman, Ph.D. (Mount Sinai School of Medicine, New York, NY).

Study 59

Data and biomaterials used in Study 59 (Site 100) were collected with funding from grant R01MH07875 from the US National Institute of Mental Health to Dr. Roel Ophoff (Principal Investigator) at University of California Los Angeles (UCLA). Other UCLA contributors are Drs. Nelson Freimer and Rita Cantor. Clinical collaborators include the members of Genetic Risk Outcome of Psychosis (GROUP) consortium from The Netherlands: René S. Kahn, M.D., Ph.D. (University Medical Center Utrecht, The Netherlands); Don H. Linszen, M.D., Ph.D. (University of Amsterdam, The Netherlands); Jim Van Os, M.D., Ph.D. (Maastricht University Medical Centre, The Netherlands); Durk Wiersma, M.D., Ph.D. (University Medical Center Groningen, The Netherlands); Richard Bruggeman, M.D., Ph.D. (University Medical Center Groningen, The Netherlands); Wiepke Cahn, M.D., Ph.D. (University Medical Center Utrecht, The Netherlands); Lieuwe De Haan, M.D., Ph.D. (University of Amsterdam, The Netherlands); Lydia Krabbendam, Ph.D. (Maatricht University Medical Centre, The Netherlands). All laboratory coordinating efforts were performed by Eric Strengman (University Medical Center Utrecht, The Netherlands).

Study 67

The collection of pedigree samples and diagnostic information was supported by National Institute of Health Grant R01MH061884 (Population Based Mapping of Schizophrenia Genes; PI: Michael Escamilla). This work was done collaboratively with the following institutions: University of Texas Health Science Center at San Antonio, Texas Tech University Health Sciences Center El Paso, and the University of Costa Rica. Investigators contributing to this work included: Michael Escamilla, M.D., Juan Zavala, M.D., Mercedes Ramirez, M.D. (Texas Tech University Health Sciences Center El Paso), Albana Dassori, M.D. and Robin Leach, Ph.D. (University of Texas Health Science Center at San Antonio), Henriette Raventos, M.D., Javier Contreras Rojas, M.D., Patricia Montero, M.D., and Rodolfo Salazar, M.D. (University of Costa Rica).

Study 68

Data and biomaterials were collected as part of a study examining people who did or did not abuse cannabis when they were adolescents and who either had developed schizophrenia or did not. Family history for psychiatric disorders, particularly the psychoses, was obtained on each individula and familial risk for schizophrenia was quantified. This project was supported by a grant (R01DA021576) to Lynn E. DeLisi, M.D., formally at New York University Langone School of Medicine and then at Harvard Medical School. Veronica Tomaselli was the research coordinator for this project at New York University, while Ashley Proal was the research coordinator at Harvard Medical School. The investigators are grateful to the several hundred participants and their families who contributed data for this project.

Study 72 (PROACTIVE)

Data used were obtained from the limited access datasets distributed from the NIH-supported "Preventing Relapse in Schizophrenia: Oral Antipsychotics Compared To Injectables: Evaluating Efficacy" (PROACTIVE). This is a multisite, clinical trial of persons with Schizophrenia comparing the effectiveness of randomly assigned medication treatment. The study was supported by NIMH Grant #s U01MH070007-01, U01MH070023, U01MH070011, U01MH070009, U01MH070008, U01MH070017, U01MH070010, U01MH070016, U01MH070012. The ClinicalTrials.gov identifier is NCT00330863.

Study 76

Data and biomaterials were collected as part of a genetics study of schizophrenia supported by National Institutes of Health grant R01MH085548. This study is based at the University of Southern California. The Principal Investgators are Carlos N. Pato, M.D., Ph.D. and Michele T. Pato, M.D.; Co-investigators are Helena Medeiros, MSW, LICSW; James A. Knowles, M.D., Ph.D., Janet L. Sobell, Ph.D; Stephen Marder, M.D.; Diana Perkins, M.D., MPH; Peter Buckley, M.D.; Christopher Morley, Ph.D.; Dolores Malaspina, M.D.; Evelyn Bromet, Ph.D., Laura Fochtmann, M.D.; Douglas Lehrer, M.D.; Fabio Macciardi, M.D., Ph.D., Marquis Vawter, Ph.D.; Humberto Nicolini, M.D., Ph.D.; Mark Rapaport, M.D.; Jeffrey Rafovsky, M.D., Maria Azevedo, M.D.; Ayman Fanous, M.D.; and Michael Escamilla, M.D. All members of the Genomic Psychiatry Cohort Consortium (GPCC). Other GPCC members are Brooke Sklar, Colony Abbott, Rute Ferreira, Becky L. Kinkead, and Nuria Lanzagorta.

The investigators wish to acknowledge the tremendous efforts of all who contributed to the ascertainment of study subjects and biomaterials (clinical interviewers, phlebotomists, Rutgers University Cell and DNA Repository). We are especially grateful to all study participants.

Study 82

The collection of data and biomaterials comes from two collaborative studies funded by the NIMH: 1/2-Expanding Rapid Ascertainment Networks of Schizophrenia Families in Taiwan (5R01MH085560; PI: Ming T. Tsuang, M.D., Ph.D.) and 2/2-Expanding Rapid Ascertainment Networks of Schizophrenia Families in Taiwan (5R01MH085521; PI: Stephen J. Glatt, Ph.D.).

We acknowledge the following researchers and clinicians performing the recruitment of the study sample in Taiwan: Hai-Gwo Hwu, M.D., Wei J. Chen, M.D., Sc. D., Ling-Ling Yeh, Ph.D., Chih-Min Liu, M.D., Ph.D., Tzung-Jeng Hwang, M.D., Ph.D., Ming H. Hsieh, M.D., Ph.D., Chen-Chung Liu, M.D., Ph.D., Yi-Ling Chien, M.D., Yi-Ting Lin, M.D., Wen-Chen Ou-Yang, M.D., Ph.D.

We also acknowledge all the participating psychiatric service settings for sample recruitment in Taiwan, including 116 psychiatric hospitals, 9 psychiatric primary care clinics, and 40 community rehabilitation units.

Study 85

Data and biomaterials were collected as part of a study examining people who were at familial high-risk for schizophrenia based on having at least 2 relatives with illness within the family (at least one being a first-degree relative compared with controls who were at low familial risk for schizophrenia. Structural and functional MRI examining language processing were obtained on each participant and samples for DNA were stored in the NIMH repository. This project was supported by a grant (R21MH083205) to Lynn E. DeLisi at the Department of Psychiatry at Harvard Medical School. Scans were performed at Massachusetts Institute of Technology under the direction of Dr. Susan Gabrieli. These individuals were recruited from throughout the Boston and New England region. They received cognitive testing at The Beth Israel-Deakoness Medical Center. Drs. Larry Seidman, Matcheri Keshavan, Theo Manschreck, Martha Shenton, and Marek Kubicki were collaborators. Dr. Heidi Thermenos performed the MRI scans and developed the fMRI protocol with Drs. Gina Kuperberg and Susan Gabrieli. Gul Jabbar was the research coordinator. The investigators are grateful to the many families who took time to participate in this study.

Study 90

Drs. Brien P. Riley, Aiden Corvin, Kenneth S. Kendler, and Michael Gill sincerely thank all patients who contributed to this study and all staff who facilitated their involvement. Funding for this study (A genomewide association study of schizophrenia in Ireland) was provided by the Wellcome Trust Case Control Consortium 2 project (085475/B/08/Z and 085475/Z/08/Z), the Wellcome Trust (072894/Z/03/Z, 090532/Z/09/Z and 075491/Z/04/B), The US National Institute of Mental Health (MH041953 and MH083094) and Science Foundation Ireland (08/IN.1/B1916). P. Donnelly was supported in part by a Wolfson-Royal Society Merit Award. We also thank S. Bertrand, J. Bryant, S.L. Clark, J.S. Conquer, T. Dibling, J.C. Eldred, S. Gamble, C. Hind, A. Wilk, C.R. Stribling and S. Taylor of the Wellcome Trust Sanger Institute’s Sample and Genotyping Facilities for technical assistance. We thank S. Leslie for support with the HLA imputation analysis. We acknowledge use of the Irish GeneBank sample, the British 1958 Birth Cohort DNA collection funded by the Medical Research Council (grant G0000934) and the Wellcome Trust (grant 068545/Z/02) and of the UK National Blood Service controls funded by the Wellcome Trust.

Study 91

Study 91 was funded by NIMH grant 3RC2MH089915-01W1 and 3RC2MH089915-02S1. The Principal Investigators were David Goldstein, Joseph McEvoy, and Anna Need (Duke University).

Study 92

Data and biomaterials in Study 92 were collected as part of a longitudinal study of epigenetics of schizophrenia, supported by National Institutes of Mental Health grants RC2MH089859 and RC2 MH089973 to Vishwajit L Nimgaonkar, M.D., Ph.D., University of Pittsburgh, and Raquel Gur, M.D., Ph.D., University of Pennsylvania, respectively. This project was part of a network of three NIMH-supported Consortia: The 8-site Consortium on the Genetics of Schizophrenia (COGS); the 3-site Multiplex-Multigenerational Investigation (MGI); and the 8-site Project among African-Americans to Explore Risks for Schizophrenia (PAARTNERS). The consortium was complemented by investigators from Johns Hopkins University (PI: A. Feinberg, M.D., Ph.D.), Rutgers University (D. Fugman, Ph.D.) and the Southwest Foundation for Biomedical Research (PI: L. Almasy, Ph.D.). The study coordinators were Sue Clifton (University of Pittsburgh) and Amy Cassidy (University of Pennsylvania). The data managers were Joel Wood (University of Pittsburgh) and Kosha Ruparel (University of Pennsylvania).

Study 94 (CIAC)

The collection of data and biomaterials for this study was supported by funding provided by R01 MH080403 (PIs: Patrick F. Sullivan, Edwin JCG van den Oord) from the US National Institute of Mental Health via the American Recovery and Reinvestment Act of 2009. Drs. Denis Fourches and Alexander Tropsha acknowledge the support from National Science Foundation grant ABI 10-567. The study was led by Patrick F. Sullivan, L. Fredrik Jarskog, Jeffrey A. Lieberman, James L. Kennedy, and Mark J. Daly. Drs Thomas Lehner (NIMH) and David Goldstein (Duke University) were also involved in assisting with this project. We acknowledge the assistance of Dr. Michael Karukin (Teva Pharmaceuticals) and Drs. Rafael Muniz and Vinod Kumar (Novartis) for help in accessing US national clozapine registries. Drs. Stanton Gerson (Department of Hematology, Case Western Reserve), Armond Goldman (Department of Immunology, University of Texas Galveston), and Nancy Berliner (Department of Hematology, Harvard University) provided input on mechanisms of agranulocytosis.

Study 104 (ACLAIMS)

Data used were obtained from the limited access datasets distributed from the NIH-supported "A Comparison of Long-Acting Injectable Medications for Schizophrenia" (ACLAIMS). This is a multisite, clinical trial of persons with schizophrenia comparing the risk and benefits of two FDA-approved long-acting injectable medications (paliperidone palmitate and haloperidol decanoate). The study was supported by NIMH Contract # R01MH081107 to the New York State Psychiatric Institute. The ClinicalTrials.gov identifier is NCT01136772.

Study 122

This work was supported by the National Institute of Mental Health. This organization is dedicated to research focused on the understanding, treatment to help answer important scientific questions about mental illness. Research is under the title of Characterization of a Mendelian Form of Psychosis in a Population Isolate. Conducted by Project Investigators: Henriette Raventós, David Glahn, Laura Almasy. Grant number R56MH097940. We thank our colleagues from Molecular and Cell Biology Research Institute who collected the data as well as the family at the central valley for such a significant cooperation.

Study 80

Data came from an NIMH funded study of suicidal behavior and the principal investigators were J. John Mann from Columbia University, Gustavo Turecki from McGill University and Dan Rujescu now at Martin Luther University of Halle-Wittenberg.

Study 141

Collection of samples and data in the Utah Genetic Research Study was supported by: the National Institute of Mental Health, R01MH099134 and R01MH122412, the American Foundation for Suicide Prevention, the Clark Tanner Foundation, the Utah Division of Substance Abuse and Mental Health, the University of Utah Office of the Vice President for Research, and a donation from the Sharon Kae Lehr Endowed Research Fund in Memory of James Raymond Crump. Processing of samples was done with assistance from the National Center for Advancing Translational Sciences of the NIH (UL1TR002538). Partial support for phenotypic data linked through the Utah Population Database (UPDB) was provided by the University of Utah Huntsman Cancer Institute. Finally, sample collection would not have been possible without countless hours provided by staff at the Utah State Office of the Medical Examiner.

Study 106

The collection of data and biomaterials for Study 106 (TIC Genetics) was supported by grants from the National Institute of Mental Health [R01MH092291; R01MH092292; R01MH092293; R01MH092513; R01MH092516; R01MH092520; R01MH092289; U24MH068457] and New Jersey Center for Tourette Syndrome and Associated Disorders (NJCTS). We are also grateful to the NJCTS for facilitating the inception and organization of the TIC Genetics study. Co-investigators include: Lawrence Brown, M.D.; Keun-Ah Cheon, M.D., Ph.D.; Barbara Coffey, M.D., MS; Andrea Dietrich, MS, Ph.D.; Donald Gilbert, M.D., MS; Dorothy Grice, M.D.; Tammy Hedderly, MB, BS, BSc, FRCPCH; Gary Heiman, MS, Ph.D.; Isobel Heyman, M.D., Ph.D.; Pieter Hoekstra, M.D., Ph.D.; Hyun Ju Hong, M.D., Ph.D.; Chaim Huyser, M.D., Ph.D.; Young Key Kim, M.D.; Young Shin Kim, M.D., MS, MPH, Ph.D.; Robert King, M.D.; Yun-Joo Koh, Ph.D.; Samuel Kuperman, M.D.; Bennett Leventhal, M.D.; Andrea Ludolph, M.D., Ph.D.; Athanasios Maras, M.D.; Pablo Mir, M.D., Ph.D.; Astrid Morer, M.D., .; Kirsten Müller-Vahl, Ph.D.; Alexander Münchau, M.D.; Kerstin Plessen, M.D., Ph.D.; Veit Roessner, Dr. med; Dong-Ho Song, M.D.; Jungeun Song, M.D., Ph.D.; Matthew State, M.D., Ph.D.; Jay Tischfield, Ph.D.; and Samuel Zinner, M.D. We are deeply indebted to all family members who willingly participated to make this research possible.

Most importantly, we thank the families who have participated in and contributed to these studies.