ArticlemedRxiv : the preprint server for health sciences2025
Psychiatric disorders converge on common pathways but diverge in cellular context, spatial distribution, and directionality of genetic effects.
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257 authors.
Worrawat EngchuanThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.ORCID 0000-0001-6138-1925
Omar ShantaBioinformatics and Systems Biology Graduate Program, University of California San Diego, La Jolla, CA, USA.ORCID 0000-0003-2387-2787
Kuldeep KumarCentre Hospitalier Universitaire Sainte-Justine Research Center, Montreal, QC, Canada.ORCID 0000-0003-3313-135X
Jeffrey R MacDonaldThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.ORCID 0000-0001-5058-2393
Bhooma ThiruvahindrapuramThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.ORCID 0000-0003-1128-008X
Omar HamdanThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.
Marieke KleinDepartment of Psychiatry, University of California San Diego, La Jolla, CA, USA.ORCID 0000-0001-8784-5679
Adam MaihoferDepartment of Psychiatry, University of California San Diego, La Jolla, CA, USA.ORCID 0000-0003-4517-1623
James GuevaraDepartment of Psychiatry, University of California San Diego, La Jolla, CA, USA.
Oanh HongDepartment of Psychiatry, University of California San Diego, La Jolla, CA, USA.
Guillaume HuguetCHU Sainte-Justine Azrieli Research Center, Université de Montréal, Montreal, QC, Canada.ORCID 0000-0002-4746-6030
Molly SacksBioinformatics and Systems Biology Graduate Program, University of California San Diego, La Jolla, CA, USA.ORCID 0000-0003-3878-7788
Mohammad AhangariDepartment of Psychiatry, University of California San Diego, La Jolla, CA, USA.ORCID 0000-0002-3509-3652
Rayssa M M W FeitosaThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.ORCID 0000-0003-0664-2402
Kara HanThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.
Marla MendesThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.ORCID 0000-0002-6114-7482
Xiaopu ZhouThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.ORCID 0000-0001-5307-5805
Nelson X BautistaThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.ORCID 0009-0007-8203-646X
Giovanna PellecchiaThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.ORCID 0000-0003-4747-3473
Zhouzhi WangThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.
Daniele MericoThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.ORCID 0000-0002-3728-4401
Ryan K C YuenProgram in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.ORCID 0000-0001-7273-4968
Brett TrostProgram in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.ORCID 0000-0003-4863-7273
Ida SønderbyKG Jebsen Centre for Neurodevelopmental disorders, University of Oslo, Oslo, Norway.ORCID 0000-0001-7297-7855
Mark J AdamsCentre for Clinical Brain Sciences, University of Edinburgh, Edinburgh, UK.ORCID 0000-0002-3599-6018
Rolf AdolfssonDepartment of Clinical Science, Umeå University, Umeå, Sweden.ORCID 0000-0001-9785-8473
Ingrid AgartzInstitute of Clinical Medicine, University of Oslo, Oslo, Norway.ORCID 0000-0002-9839-5391
Allison E AielloDepartment of Epidemiology, Columbia University, Robert N Butler Columbia Aging Center, New York, NY, US.ORCID 0000-0001-7029-2537
Martin AldaNational Institute of Mental Health, Klecany, Czech Republic.ORCID 0000-0001-9544-3944
Judith AllardyceDivision of Psychiatry, University of Edinburgh, Edinburgh, UK.ORCID 0000-0003-4094-552X
Ananda B AmstadterDepartment of Psychiatry, Virginia Institute for Psychiatric and Behavioral Genetics, Virginia Commonwealth University, Richmond, VA, USA.ORCID 0000-0001-6285-9943
Till F M AndlauerDepartment of Neurology, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany.ORCID 0000-0002-2917-5889
Ole A AndreassenKG Jebsen Centre for Neurodevelopmental disorders, University of Oslo, Oslo, Norway.ORCID 0000-0002-4461-3568
María S ArtigasBiomedical Network Research Centre on Mental Health (CIBERSAM), Madrid, Spain.ORCID 0000-0003-0475-3782
S Bryn AustinBoston Children's Hospital, Division of Adolescent and Young Adult Medicine, Boston, MA, USA.ORCID 0000-0002-0830-5293
Muhammad AyubUniversity College London, London, UK.ORCID 0000-0002-7111-1571
Dewleen G BakerDepartment of Psychiatry, University of California San Diego, La Jolla, CA, USA.ORCID 0000-0002-1736-9838
Nick BassDivision of Psychiatry, University College London, London, UK.ORCID 0000-0001-6548-426X
Bernhard T BauneDepartment of Psychiatry, University of Münster, Münster, Germany.
Maximilian BayasDepartment of Psychiatry, Psychosomatic Medicine and Psychotherapy; University Hospital Frankfurt - Goethe University, Frankfurt, Germany.ORCID 0000-0001-8966-3684
Klaus BergerInstitute of Epidemiology and Social Medicine, University of Münster, Münster, Germany.
Joanna M BiernackaDepartment of Quantitative Health Sciences, Mayo Clinic, Rochester, MN, USA.ORCID 0000-0001-9350-4440
Tim BigdeliDepartment of Psychiatry and Behavioral Sciences, Institute for Genomics in Health, State University of New York Downstate Health Sciences University, Brooklyn, NY, USA.ORCID 0000-0003-2215-5946
Jonathan I BissonCardiff University, National Centre for Mental Health, MRC Centre for Psychiatric Genetics and Genomics, Cardiff, UK.
Douglas BlackwoodDivision of Psychiatry, University of Edinburgh, Edinburgh, UK.ORCID 0000-0002-4076-9346
Marco BoksUniversity Medical Center, Division of Neurosciences, Department of Psychiatry, Heidelberglaan, Utrecht, the Netherlands.ORCID 0000-0001-6163-7484
David BraffDepartment of Psychiatry, University of California San Diego, La Jolla, CA, USA.ORCID 0000-0003-1831-1344
Elvira BramonDivision of Psychiatry, University College London, London, UK.ORCID 0000-0003-1369-5983
Gerome BreenSocial, Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.ORCID 0000-0003-2053-1792
Tanja BruecklDepartment of Translational Research in Psychiatry, Max Planck Institute of Psychiatry, Munich, Germany.
Richard A BryantSchool of Psychology, Faculty of Science, University of New South Wales, Sydney, New South Wales, Australia.ORCID 0000-0002-9607-819X
Cynthia M BulikDepartment of Nutrition, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.ORCID 0000-0001-7772-3264
Joseph BuxbaumSeaver Autism Center, Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA.ORCID 0000-0001-8898-8313
Murray J CairnsPrecision Medicine Research Program, Hunter Medical Research Institute, Newcastle, New South Wales, Australia.ORCID 0000-0003-2490-2538
Jose M Caldas-de-AlmeidaChronic Diseases Research Centre (CEDOC), Lisbon Institute of Global Mental Health, Lisbon, Portugal.ORCID 0000-0003-1902-6772
Megan CampbellDepartment of Psychiatry and Neuroscience Institute, University of Cape Town, Cape Town, South Africa.ORCID 0000-0001-9576-8562
Dominique CampionINSERM EPI 9906, Faculté de Médecine et de Pharmacie, Institut Fédératif de Recherches Multidisciplinaires sur les peptides, Rouen, France.ORCID 0000-0003-1916-7890
Vaughan J CarrDepartment of Psychiatry, Monash University, Melbourne, Australia.ORCID 0000-0002-8907-5804
Enrique CastelaoPsychiatric Epidemiology and Psychopathology Research Center, Department of Psychiatry, Lausanne University Hospital and University of Lausanne, Prilly, Switzerland.ORCID 0000-0003-1966-3683
Boris ChaumetteUniversité Paris Cité, Institute of Psychiatry and Neuroscience of Paris (INSERM U1266), GHU Paris Psychiatrie et Neurosciences, Paris, France.ORCID 0000-0002-1313-2788
Sven CichonInstitute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn, Bonn, Germany.ORCID 0000-0002-9475-086X
David CohenDepartment of Child and Adolescent Psychiatry, Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris-Sorbonne University, Paris, France.ORCID 0000-0002-3321-7375
Aiden CorvinDepartment of Psychiatry, Trinity College Dublin, Dublin, Ireland.ORCID 0000-0001-6717-4089
Nicholas CraddockCentre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK.ORCID 0000-0003-2171-0610
Jennifer CrosbieDepartment of Psychiatry, University of Toronto, Toronto, ON, Canada.ORCID 0000-0002-8710-3322
Darrina CzamaraDepartment Genes and Environment, Max-Planck-Institute of Psychiatry, Munich, Germany.ORCID 0000-0001-7381-904X
Udo DannlowskiJoint Institute for Individualisation in a Changing Environment (JICE), University of Münster and Bielefeld University, Münster, Germany.ORCID 0000-0002-0623-3759
Franziska DegenhardtInstitute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn, Bonn, Germany.ORCID 0000-0002-1685-8904
Douglas L DelahantyDepartment of Psychological Sciences, Kent State University, Kent, OH, USA.ORCID 0000-0002-9021-7064
Astrid DempfleInstitute of Medical Informatics and Statistics, UKSH University Hospital of Schleswig-Holstein Kiel Campus, Arnold-Heller-Strasse, Kiel, Germany.ORCID 0000-0002-2618-3920
Guillaume DesachyInstitute for Human Genetics, Department of Psychiatry and Behavioral Sciences, Weill Institute for Neurosciences, University of California San Francisco, San Francisco, CA, USA.ORCID 0000-0002-2000-1436
Arianna Di FlorioSchool of Medicine, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK.ORCID 0000-0003-0338-2748
Faith B DickersonSheppard Pratt Health System, Baltimore, MD, USA.ORCID 0000-0003-3800-2864
Srdjan DjurovicKG Jebsen Centre for Neurodevelopmental disorders, University of Oslo, Oslo, Norway.ORCID 0000-0002-8140-8061
Katharina DomschkeDepartment of Psychiatry and Psychotherapy, University of Freiburg, Freiburg, Germany.ORCID 0000-0002-2550-9132
Lisa DouglasCheshire and Wirral Partnership NHS Trust, Ellesmere Port, Cheshire, UK.
Ole K DrangeCentre for Precision Psychiatry, Oslo University Hospital & University of Oslo, Oslo, Norway.ORCID 0000-0003-2766-7190
Laramie E DuncanDepartment of Psychiatry and Behavioral Sciences, Stanford University, Stanford, CA, USA.ORCID 0000-0003-1131-661X
Howard J EdenbergDepartment of Biochemistry & Molecular Biology, Indiana University, Indianapolis, IN, USA.ORCID 0000-0003-0344-9690
Tonu EskoEstonian Genome Centre, Institute of Genomics, University of Tartu, Tartu, Estonia.ORCID 0000-0003-1982-6569
Steve FaraoneDepartments of Psychiatry and of Neuroscience and Physiology, SUNY Upstate Medical University, Syracuse, New York, NY, USA.ORCID 0000-0002-9217-3982
Norah C FeenyDepartment of Psychological Sciences, Case Western Reserve University, Cleveland, OH, USA.ORCID 0000-0001-8590-4591
Andreas J ForstnerInstitute of Medical Genetics and Pathology, University Hospital Basel, Basel, Switzerland.ORCID 0000-0002-1876-6368
Barbara FrankeDepartment of Medical Neuroscience, Donders Institute of Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.ORCID 0000-0003-4375-6572
Mark FryeDepartment of Psychiatry and Psychology, Mayo Clinic, Rochester, MN, US.
Dong-Jing FuJanssen Research and Development, LLC.
Janice M FullertonSchool of Biomedical Sciences, University of New South Wales, Sydney, New South Wales, Australia.ORCID 0000-0003-4014-4490
Anna GareevaFSBSI Institute of Biochemistry and Genetics of the Ufa Federal Research Center of the Russian Academy of Sciences, Russia.
Linda GarvertDepartment of Psychiatry and Psychotherapy, University Medicine Greifswald, Greifswald, Germany.ORCID 0000-0001-9067-8170
Justine M GattSchool of Psychology, Faculty of Science, University of New South Wales, Sydney, New South Wales, Australia.ORCID 0000-0002-9276-6358
Pablo GejmanDepartment of Psychiatry and Behavioral Neuroscience, University of Chicago, Chicago, IL, USA.ORCID 0000-0002-1258-0626
Daniel H GeschwindSchool of Medicine, University of California Los Angeles, Los Angeles, CA, USA.
Ina GieglingDepartment of Psychiatry and Psychotherapy, Comprehensive Center for Clinical Neurosciences and Mental Health (C3NMH), Medical University of Vienna, Austria.ORCID 0000-0001-8407-7512
Stephen J GlattDirector, Psychiatric Genetic Epidemiology & Neurobiology Laboratory (PsychGENe Lab), SUNY Upstate Medical University.ORCID 0000-0002-0360-7567
Joe GlessnerDivision of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Fernando S GoesDepartment of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, MD, USA.ORCID 0000-0001-6262-8264
Katherine Gordon-SmithPsychological Medicine, University of Worcester, Worcester, UK.ORCID 0000-0003-4083-1143
Hans GrabeDepartment of Psychiatry and Psychotherapy, University Medicine Greifswald, Greifswald, Germany.ORCID 0000-0003-3684-4208
Melissa J GreenDiscipline of Psychiatry and Mental Health, School of Clinical Medicine, Faculty of Medicine and Health, University of New South Wales, Sydney, New South Wales, Australia.
Michael F GreenCenter on Enhancement of Community Integration for Homeless Veterans, VA Greater Los Angeles Healthcare System, Los Angeles, CA, USA.
Tiffany GreenwoodDepartment of Psychiatry, University of California San Diego, La Jolla, CA, USA.ORCID 0000-0002-6080-6503
Maria Grigoroiu-SerbanescuPsychiatric Genetics Research Unit, Alexandru Obregia Clinical Psychiatric Hospital, Bucharest, Romania.ORCID 0000-0002-1304-6687
Raquel E GurDepartment of Psychiatry, University of Pennsylvania, Philadelphia, PA, USA.ORCID 0000-0002-4082-8502
Ruben C GurDepartment of Psychiatry, University of Pennsylvania, Philadelphia, PA, USA.ORCID 0000-0002-9657-1996
Jose Guzman-ParraUnidad de Gestión Clínica de Salud Mental del Hospital Regional Universitario de Málaga, Instituto de Investigación Biomédica de Málaga y Plataforma en Nanomedicina - IBIMA Plataforma Bionand, Málaga, Spain.ORCID 0000-0002-1463-6435
Jan HaavikJanK.G. Jebsen Centre for Neuropsychiatric Disorders, Department of Biomedicine, University of Bergen, Bergen, Norway.ORCID 0000-0001-7865-2808
Tim HahnInstitute for Translational Psychiatry, University of Münster, Münster, Germany.ORCID 0000-0002-1438-2244
Hakon HakonarsonDivision of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.ORCID 0000-0003-2814-7461
Joachim HallmayerDepartment of Psychiatry and Behavioral Sciences (JKF, PL, BJ, MWM, JH, JY), Stanford University School of Medicine, Stanford, CA, USA.ORCID 0000-0002-8520-4939
Marian L HamshereMedical Research Council Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK.ORCID 0000-0002-8990-0958
Annette M HartmannDepartment of Psychiatry and Psychotherapy, Medical University of Vienna, Austria.ORCID 0000-0003-0689-4335
Arsalan HassanUniversity of Peshawar, Peshawar, Pakistan.ORCID 0000-0002-3262-0277
Caroline HaywardMRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, Edinburgh, UK.ORCID 0000-0002-9405-9550
Johannes HebebrandDepartment of Child and Adolescent Psychiatry, Psychotherapy and Psychosomatics, University Hospital Essen (AöR), University of Duisburg-Essen, Essen, Germany.ORCID 0000-0001-5364-6073
Sian M J HemmingsFaculty of Medicine and Health Sciences, Department of Psychiatry, Stellenbosch University, Cape Town, Western Cape, ZA.ORCID 0000-0001-8461-1017
Stefan HermsInstitute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn, Bonn, Germany.ORCID 0000-0002-2786-8200
Marisol Herrera-RiveroDepartment of Psychiatry, University of Münster, Münster, Germany.ORCID 0000-0001-7064-9487
Anke HinneyCenter for Translational Neuro- and Behavioral Sciences, University Hospital Essen, University of Duisburg-Essen, Essen, Germany.ORCID 0000-0001-5659-0706
Georg HomuthInterfaculty Institute for Genetics and Functional Genomics, University Medicine Greifswald, Greifswald, Germany.ORCID 0000-0001-6839-0605
Andrés IngasonInstitute of Biological Psychiatry, Mental Health Services, Copenhagen University Hospital, Roskilde, Denmark.ORCID 0009-0002-6479-4025
Lucas T ItoCharles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Nakao IwataDepartment of Psychiatry, Fujita Health University School of Medicine, Toyoake, Aichi, Japan.ORCID 0000-0003-3189-6076
Ian JonesCardiff University, National Centre for Mental Health, Cardiff University Centre for Psychiatric Genetics and Genomics, Cardiff, UK.ORCID 0000-0001-5821-5889
Lisa A JonesPsychological Medicine, University of Worcester, Worcester, UK.ORCID 0000-0002-5122-8334
Lina JonssonInstitute of Neuroscience and Physiology, University of Gothenburg, Gothenburg, Sweden.ORCID 0000-0001-8368-6332
Erik G JönssonInstitute of Clinical Medicine, University of Oslo, Oslo, Norway.
René S KahnDepartment of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA.ORCID 0000-0001-5909-8004
Robert KarlssonDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.ORCID 0000-0002-4631-318X
Milissa L KaufmanMcLean Hospital, Belmont, MA, USA.ORCID 0000-0001-7396-8213
John R KelsoeDepartment of Psychiatry, University of California San Diego, La Jolla, CA, USA.ORCID 0000-0002-3013-2333
James L KennedyDepartment of Psychiatry, University of Toronto, Toronto, ON, Canada.ORCID 0000-0002-8733-3806
Anthony KingThe Ohio State University, College of Medicine, Institute for Behavioral Medicine Research, Columbus, OH, USA.ORCID 0000-0002-0764-9625
Tilo KircherDepartment of Psychiatry and Psychotherapy, University of Marburg, Marburg, Germany.ORCID 0000-0002-2514-2625
George KirovDepartment of Psychological Medicine and Neurology, MRC Centre for Neuropsychiatric Genetics and Genomics, School of Medicine, Neuroscience and Mental Health Research Institute, Cardiff University, Cardiff, UK.ORCID 0000-0002-3427-3950
Per KnappskogDepartment of Clinical Science, University of Bergen, Bergen, Norway.ORCID 0000-0002-8277-4530
James A KnowlesDepartment of Genetics, Rutgers University, Piscataway, NJ, USA.
Nene KobayashiGoethe University Frankfurt, University Hospital, Department of Psychiatry, Psychosomatic Medicine and Psychotherapy, Frankfurt, Germany.
Karestan C KoenenDepartment of Epidemiology, Harvard T. H. Chan School of Public Health, Boston, MA, USA.ORCID 0000-0003-2978-7655
Bettina KonteDepartment of Psychiatry and Psychotherapy, Medical University of Vienna, Austria.ORCID 0000-0001-5287-308X
Mayuresh KorgaonkarBrain Dynamics Centre, Westmead Institute for Medical Research, University of Sydney, Sydney, New South Wales, Australia.ORCID 0000-0002-1339-2221
Kaarina KowalecDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.ORCID 0000-0003-3928-9879
Marie-Odile KrebsUniversité Paris Cité, Institute of Psychiatry and Neuroscience of Paris (INSERM U1266), GHU Paris Psychiatrie et Neurosciences, Paris, France.ORCID 0000-0002-4715-9890
Mikael LandénInstitute of Neuroscience and Physiology, University of Gothenburg, Gothenburg, Sweden.ORCID 0000-0002-4496-6451
Claudine Laurent-LevinsonDepartment of Child and Adolescent Psychiatry, Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris-Sorbonne University, Paris, France.ORCID 0000-0001-6550-3635
Lauren A LeboisDepartment of Psychiatry, Harvard Medical School, Boston, MA, USA.ORCID 0000-0001-5816-9181
Doug LevinsonDepartment of Psychiatry and Behavioral Sciences, Stanford University, Stanford, CA, USA.
Cathryn LewisSocial, Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.ORCID 0000-0002-8249-8476
Qingqin LiJanssen Research and Development, LLC.ORCID 0000-0003-4182-4535
Israel LiberzonDepartment of Psychiatry and Behavioral Sciences, Texas A&M University College of Medicine, Bryan, TX, USA.ORCID 0000-0002-4990-556X
Greg LightDepartment of Psychiatry, University of California San Diego, La Jolla, CA, USA.
Sandra K LooDepartment of Psychiatry and Biobehavioral Sciences, University of California Los Angeles, Los Angeles, CA, USA.ORCID 0000-0002-9108-0565
Yi LuDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.ORCID 0000-0001-9933-3654
Susanne LucaeDepartment of Translational Research in Psychiatry, Max Planck Institute of Psychiatry, Munich, Germany.ORCID 0000-0001-6263-3485
Charles MarmarNew York University, Grossman School of Medicine, New York City, NY, USA.ORCID 0000-0001-8427-5607
Nicholas G MartinBrain and Mental Health Program, QIMR Berghofer Institute of Medical Research, Brisbane, Australia.ORCID 0000-0001-9023-9696
Fermin MayoralUnidad de Gestión Clínica de Salud Mental del Hospital Regional Universitario de Málaga, Instituto de Investigación Biomédica de Málaga y Plataforma en Nanomedicina - IBIMA Plataforma Bionand, Málaga, Spain.ORCID 0000-0002-9710-9672
Andrew M McIntoshDivision of Psychiatry, Centre for Clinical Brain Sciences, The University of Edinburgh, Edinburgh, UK.ORCID 0000-0002-0198-4588
Katie A McLaughlinDepartment of Psychology, Harvard University, Boston, MA, USA.ORCID 0000-0002-1362-2410
Samuel A McLeanDepartment of Emergency Medicine, UNC Institute for Trauma Recovery, Chapel Hill, NC, USA.ORCID 0000-0001-9482-3582
Andrew McQuillinDivision of Psychiatry, University College London, London, UK.ORCID 0000-0003-1567-2240
Sarah E MedlandSchool of Psychology, The University of Queensland, Brisbane, Queensland, Australia.ORCID 0000-0003-1382-380X
Andreas Meyer-LindenbergDepartment of Psychiatry and Psychotherapy, Central Institute of Mental Health, Medical Faculty Mannheim, Heidelberg University, Mannheim, Germany.ORCID 0000-0001-5619-1123
Vihra MilanovaDepartment of Psychiatry, Faculty of Medicine, Medical University of Sofia, University Hospital Alexandrovska, Bulgaria.ORCID 0000-0002-6939-9107
Philip B MitchellDiscipline of Psychiatry and Mental Health, School of Clinical Medicine, Faculty of Medicine and Health, University of New South Wales, Sydney, New South Wales, Australia.ORCID 0000-0002-7954-5235
Esther MolinaDepartment of Nursing, Faculty of Health Sciences, University of Granada, Granada, Spain.ORCID 0000-0001-7201-3749
Bryan MowryQueensland Centre for Schizophrenia Research, Wolston Park Hospital, Wacol, Queensland, Australia.ORCID 0000-0002-4115-5645
Bertram Muller-MyhsokHMNC Holding GmbH, Munich, Germany.ORCID 0000-0002-0719-101X
Niamh MullinsCharles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.ORCID 0000-0001-8021-839X
Robin MurrayDepartment of Psychosis Studies, Institute of Psychiatry, Psychology and Neuroscience,King's College London, UK.ORCID 0000-0003-0829-0519
Markus M NöthenInstitute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn, Bonn, Germany.ORCID 0000-0002-8770-2464
John I NurnbergerDepartments of Psychiatry & Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA.ORCID 0000-0002-7674-1767
Kevin S O'ConnellDivision of Mental Health and Addiction, Oslo University Hospital, Oslo, Norway.ORCID 0000-0002-6865-8795
Roel A OphoffDepartment of Psychiatry and Biobehavioral Science and Department of Human Genetics, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA.ORCID 0000-0002-8287-6457
Holly K OrcuttDepartment of Psychology, Northern Illinois University, DeKalb, IL, USA.ORCID 0000-0002-0197-0784
Michael J OwenCentre for Neuropsychiatric Genetics and Genomics, Division of Psychiatry and Clinical Neurosciences, Cardiff University, Hadyn Ellis Building, Maindy Road, Cardiff, CF24 4HQ.ORCID 0000-0003-4798-0862
Aarno PalotieAnalytic and Translational Genetics Unit, Department of Medicine, Department of Neurology, and Department of Psychiatry, Massachusetts General Hospital, Boston, MA, USA.ORCID 0000-0002-2527-5874
Carlos PatoDepartment of Psychiatry, Rutgers University, Piscataway, NJ, USA.ORCID 0000-0002-5858-266X
Michele PatoDepartment of Psychiatry, Rutgers University, Piscataway, NJ, USA.ORCID 0000-0002-4589-7398
Joanna PawlakDepartment of Psychiatric Genetics, Poznan University of Medical Sciences, Poznan, Poland.ORCID 0000-0001-5064-3707
Triinu PetersCenter for Translational Neuro- and Behavioral Sciences, University Hospital Essen, University of Duisburg-Essen, Essen, Germany.ORCID 0000-0002-7341-2802
Tracey L PetryshenPsychiatric and Neurodevelopmental Genetics Unit, Department of Psychiatry and Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.ORCID 0000-0002-7972-4612
Giorgio PistisPsychiatric Epidemiology and Psychopathology Research Center, Department of Psychiatry, Lausanne University Hospital and University of Lausanne, Prilly, Switzerland.ORCID 0000-0002-4525-4608
James B PotashDepartment of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, MD, USA.ORCID 0000-0002-5802-8079
John PowellKing's College London, London, UK.ORCID 0000-0001-6124-439X
Martin PreisigPsychiatric Epidemiology and Psychopathology Research Center, Department of Psychiatry, Lausanne University Hospital and University of Lausanne, Prilly, Switzerland.ORCID 0000-0001-5689-4259
Digby QuestedOxford NHS Foundation Trust, Oxford, UK.ORCID 0000-0001-6155-3336
Josep A Ramos-QuirogaBiomedical Network Research Centre on Mental Health (CIBERSAM), Madrid, Spain.ORCID 0000-0003-1622-0350
Andreas ReifDepartment of Psychiatry, Psychosomatic Medicine and Psychotherapy, University Hospital Frankfurt - Goethe University, Frankfurt am Main, Germany.ORCID 0000-0002-0992-634X
Kerry J ResslerDepartment of Psychiatry, Harvard Medical School, Boston, MA, USA.ORCID 0000-0002-5158-1103
Marta RibasésBiomedical Network Research Centre on Mental Health (CIBERSAM), Madrid, Spain.ORCID 0000-0003-1039-1116
Marcella RietschelDepartment of Genetic Epidemiology in Psychiatry, Central Institute of Mental Health, Medical Faculty Mannheim, Heidelberg University, Mannheim, Germany.ORCID 0000-0002-5236-6149
Victoria B RisbroughDepartment of Psychiatry, University of California San Diego, La Jolla, CA, USA.ORCID 0000-0001-8347-3820
Margarita RiveraInstitute of Neurosciences 'Federico Olóriz', Biomedical Research Centre (CIBM), University of Granada, and Instituto de Investigación Biosanitaria, Ibs Granada, Granada, Spain.ORCID 0000-0003-4717-1045
Alex O RothbaumDepartment of Psychiatry and Behavioral Sciences, Emory University, Atlanta, GA, USA.ORCID 0000-0003-0593-1552
Barbara O RothbaumDepartment of Psychiatry and Behavioral Sciences, Emory University, Atlanta, GA, USA.ORCID 0000-0002-8793-7124
Dan RujescuDepartment of Psychiatry and Psychotherapy, Comprehensive Center for Clinical Neurosciences and Mental Health (C3NMH), Medical University of Vienna, Austria.ORCID 0000-0002-1432-313X
Takeo SaitoDepartment of Psychiatry, Fujita Health University School of Medicine, Toyoake, Aichi, Japan.ORCID 0000-0003-3671-4585
Alan R SandersDepartment of Psychiatry and Behavioral Neuroscience, University of Chicago.ORCID 0000-0001-6629-4011
Russell J SchacharDepartment of Psychiatry, University of Toronto, Toronto, ON, Canada.ORCID 0000-0002-2015-4395
Peter R SchofieldDiscipline of Psychiatry and Mental Health, School of Clinical Medicine, Faculty of Medicine and Health, University of New South Wales, Sydney, New South Wales, Australia.ORCID 0000-0003-2967-9662
Eva C SchulteInstitute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn, Bonn, Germany.ORCID 0000-0003-3105-5672
Thomas G SchulzeInstitute of Psychiatric Phenomics and Genomics (IPPG), LMU University Hospital, LMU Munich, Munich, Germany.ORCID 0000-0001-6624-2975
Laura J ScottDepartment of Biostatistics and Center for Statistical Genetics, School of Public Health, University of Michigan, Ann Arbor, MI, USA.
Soraya SeedatSAMRC Extramural Genomics of Brain Disorders Research Unit, Stellenbosch University, Cape Town, Western Cape, ZA.ORCID 0000-0002-5118-786X
Christina SheerinDepartment of Psychiatry, Virginia Institute for Psychiatric and Behavioral Genetics, Virginia Commonwealth University, Richmond, VA, USA.ORCID 0000-0003-3773-641X
Jianxin ShiDivision of Cancer Epidemiology and Genetics National Cancer Institute, Rockville, MD, USA.
Pamela SklarIcahn School of Medicine at Mount Sinai, New York, NY, USA.ORCID 0000-0001-9715-4943
Susan SmalleyDepartment of Psychiatry and Biobehavioral Sciences, University of California Los Angeles, Los Angeles, CA, USA.ORCID 0000-0002-5092-8400
Olav B SmelandDivision of Mental Health and Addiction, Oslo University Hospital, Oslo, Norway.ORCID 0000-0002-3761-5215
Jordan W SmollerPsychiatric and Neurodevelopmental Genetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.ORCID 0000-0002-0381-6334
Edmund Sonuga-BarkeDepartment of Child and Adolescent Psychiatry, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.ORCID 0000-0002-6996-3935
David St ClairDepartment of Mental Health, University of Aberdeen, Royal Cornhill Hospital, Aberdeen, UK.ORCID 0000-0002-5890-7292
Nils Eiel SteenDivision of Mental Health and Addiction, Oslo University Hospital, Oslo, Norway.ORCID 0000-0001-6442-1179
Dan SteinSAMRC Unit on Risk and Resilience in Mental Disorders, Dept of Psychiatry and Neuroscience Institute, University of Cape Town, Cape Town, South Africa.ORCID 0000-0001-7218-7810
Frederike SteinDepartment of Psychiatry and Psychotherapy, University of Marburg, Marburg, Germany.ORCID 0000-0002-5052-6022
Murray B SteinDepartment of Psychiatry, University of California San Diego, La Jolla, CA, USA.ORCID 0000-0001-9564-2871
Fabian StreitDepartment of Psychiatry and Psychotherapy, Central Institute of Mental Health, Medical Faculty Mannheim, Heidelberg University, Mannheim, Germany.ORCID 0000-0003-1080-4339
Neal SwerdlowDepartment of Psychiatry, University of California San Diego, La Jolla, CA, USA.ORCID 0000-0001-9711-5020
Florence ThibautCochin University Hospital, Paris Cité University, Paris, France.ORCID 0000-0002-0204-5435
Johan H ThygesenDivision of Psychiatry, University College London, London, UK.ORCID 0000-0002-7479-3459
Ilgiz TimerbulatovFSBEI APGE Russian Medical Academy of Continuing Professional Education of the Ministry of Health of Russia, Russia.ORCID 0000-0001-5241-6073
Claudio TomaNeuroscience Research Australia, Sydney, New South Wales, Australia.ORCID 0000-0003-3901-7507
Edward TrapidoSchool of Public Health and Department of Epidemiology, Louisiana State University Health Sciences Center, New Orleans, LA, US.ORCID 0000-0002-9612-4555
Micheline TremblayCheshire and Wirral Partnership NHS Foundation Trust, Winsford, Cheshire, UK.ORCID 0000-0001-9554-6628
Ming T TsuangDepartment of Psychiatry, University of California San Diego, La Jolla, CA, USA.ORCID 0000-0002-0076-5340
Monica UddinGenomics Program, University of South Florida College of Public Health, Tampa, FL, USA.ORCID 0000-0001-7404-2068
Marquis P VawterDepartment of Psychiatry & Human Behavior, University of California, Irvine, CA, USA.ORCID 0000-0002-7987-6309
John B VincentDepartment of Psychiatry, University of Toronto, Toronto, ON, Canada.ORCID 0000-0003-0692-2519
Henry VölzkeInstitute for Community Medicine, University Medicine Greifswald, Greifswald, Germany.ORCID 0000-0001-7003-399X
James T WaltersCentre for Neuropsychiatric Genetics and Genomics, Division of Psychiatry and Clinical Neurosciences, Cardiff University, Hadyn Ellis Building, Maindy Road, Cardiff, CF24 4HQ.ORCID 0000-0002-6980-4053
Cynthia S WeickertNeuroscience Research Australia, Randwick, New South Wales, Australia.ORCID 0000-0002-2030-5958
Lauren A WeissInstitute for Human Genetics, Department of Psychiatry and Behavioral Sciences, Weill Institute for Neurosciences, University of California San Francisco, San Francisco, CA, USA.
Myrna M WeissmanNew York State Psychiatric Institute, New York, NY, USA.ORCID 0000-0003-3490-3075
Thomas WergeInstitute of Biological Psychiatry, Mental Health Services, Copenhagen University Hospital, Copenhagen, Denmark.ORCID 0000-0003-1829-0766
Stephanie H WittDepartment of Genetic Epidemiology in Psychiatry, Central Institute of Mental Health, Medical Faculty Mannheim, Heidelberg University, Mannheim, Germany.ORCID 0000-0002-1571-1468
Miguel XavierUniversidade Nova de Lisboa, Nova Medical School, Lisboa, Portugal.
Robert YolkenStanley Division of Developmental Neurovirology, Johns Hopkins School of Medicine, Baltimore, MD, USA.ORCID 0000-0001-9902-1554
Ross M YoungUniversity of the Sunshine Coast, The Chancellory, Sippy Downs, Queensland, Australia.ORCID 0000-0002-6806-6503
Tetyana ZayatsDepartment of Biomedicine, University of Bergen, Bergen, Norway.ORCID 0000-0003-1927-3255
Lori A ZoellnerDepartment of Psychology, University of Washington, Seattle, WA, USA.ORCID 0000-0002-7101-0703
AGP Consortium, PEIC Psychosis Endophenotypes International Consortium
ADHD Working Group of the Psychiatric Genomics Consortium
Autism Working Group of the Psychiatric Genomics Consortium, Bipolar Disorder Working Group of the Psychiatric Genomics Consortium
Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium
PTSD Working Group of the Psychiatric Genomics Consortium
Schizophrenia Working Group of the Psychiatric Genomics Consortium
CNV Working Group of the Psychiatric Genomics Consortium
Kimberley KendallCentre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK.ORCID 0000-0002-6755-6121
Brien RileyDepartment of Psychiatry, Virginia Institute for Psychiatric and Behavioral Genetics, Virginia Commonwealth University, Richmond, VA, USA.ORCID 0000-0002-2408-8268
Naomi R WrayDepartment of Psychiatry, University of Oxford, Warneford Hospital, Oxford, UK.ORCID 0000-0001-7421-3357
Michael C O'DonovanCentre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK.ORCID 0000-0001-7073-2379
Patrick F SullivanDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.ORCID 0000-0002-6619-873X
Sandra Sanchez-RoigeDepartment of Psychiatry, University of California San Diego, La Jolla, CA, USA.ORCID 0000-0001-6137-5699
Caroline M NievergeltDepartment of Psychiatry, University of California San Diego, La Jolla, CA, USA.ORCID 0000-0001-5766-8923
Sébastien JacquemontCentre Hospitalier Universitaire Sainte-Justine Research Center, Montreal, QC, Canada.ORCID 0000-0001-6838-8767
Stephen W SchererThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.ORCID 0000-0002-8326-1999
Jonathan SebatDepartment of Psychiatry, University of California San Diego, La Jolla, CA, USA.ORCID 0000-0002-9087-526X
Funding
Penn Mental Health AIDS Research CenterP30MH097488 · NIMH · UNIVERSITY OF PENNSYLVANIA · PI Knashawn Hodge Morales · 2013 to 2026
$23.5MPsychiatric Genomics Consortium for PTSDR01MH106595 · NIMH · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI KARESTAN C KOENEN, Caroline M Nievergelt · 2016 to 2026
$8.4MLarge-Scale Evaluation of the Effect of Rare Genetic Variants on Psychiatric Symptoms and Cognitive AbilityU01MH119690 · NIMH · BOSTON CHILDREN'S HOSPITAL · PI ALMASY, LAURA A., GLAHN, DAVID C · 2019 to 2023
$5.9M2/7 Psychiatric Genomics Consortium: Advancing Discovery and ImpactR01MH124851 · NIMH · MASSACHUSETTS GENERAL HOSPITAL · PI BOERGLUM, ANDERS, DAVIS, LEA K · 2021 to 2025
$5.4M1/7 PGC: Advancing Discovery and ImpactR01MH124871 · NIMH · UNIV OF NORTH CAROLINA CHAPEL HILL · PI BULIK, CYNTHIA M, SULLIVAN, PATRICK F · 2021 to 2025
$3.5M7/7 Psychiatric Genomics Consortium: Advancing Discovery and ImpactR01DA054869 · NIDA · WASHINGTON UNIVERSITY · PI AGRAWAL, ARPANA, EDENBERG, HOWARD J · 2021 to 2025
$3.3M2/4-Psychiatric GWAS Consortium: Genomic Follow-Up Next-Gen Sequencing & GenotypiU01MH094432 · NIMH · MASSACHUSETTS GENERAL HOSPITAL · PI DALY, MARK JOSEPH · 2012 to 2015
$3.0M5/7 Psychiatric Genomics Consortium: Finding actionable variationU01MH109514 · NIMH · CARDIFF UNIVERSITY · PI O'DONOVAN, MICHAEL · 2016 to 2020
$2.9M5/7 Psychiatric Genomics Consortium: Advancing Discovery and ImpactR01MH124873 · NIMH · CARDIFF UNIVERSITY · PI LEWIS, CATHRYN, O'DONOVAN, MICHAEL · 2021 to 2025
$2.6M4/7 Psychiatric Genomics Consortium: Advancing Discovery and ImpactR01MH124847 · NIMH · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI NIEVERGELT, CAROLINE M, SEBAT, JONATHAN · 2021 to 2025
$2.1M3/7 Psychiatric Genomics Consortium: Advancing Discovery and ImpactR01MH124839 · NIMH · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI ANDREASSEN, OLE A, HUCKINS, LAURA MARIANNE · 2021 to 2025
$2.0M4/9: Dissecting the effects of genomic variants on neurobehavioral dimensions in CNVs enriched for neuropsychiatric disordersU01MH119746 · NIMH · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI SEBAT, JONATHAN · 2019 to 2023
$1.4MNIDA NIH HHS R01 DA054869NIMH NIH HHS K01 MH118467NIMH NIH HHS P30 MH097488NIMH NIH HHS R01 MH106595NIMH NIH HHS R01 MH124839NIMH NIH HHS R01 MH124847NIMH NIH HHS R01 MH124851NIMH NIH HHS R01 MH124871NIMH NIH HHS R01 MH124873NIMH NIH HHS R01 MH124875NIMH NIH HHS R56 MH133899NIMH NIH HHS U01 MH094432NIMH NIH HHS U01 MH109514NIMH NIH HHS U01 MH119690NIMH NIH HHS U01 MH119739NIMH NIH HHS U01 MH119746
Abstract
Psychiatric conditions share common genes, but mechanisms that differentiate diagnoses remain unclear. We present a multidimensional framework for functional analysis of rare copy number variants (CNVs) across 6 diagnostic categories, including schizophrenia (SCZ), autism (ASD), bipolar disorder (BD), depression (MDD), PTSD, and ADHD (N = 574,965). Using gene-set burden analysis (GSBA), we tested duplication (DUP) and deletion (DEL) burden across 2,645 functional gene sets defined by the intersections of pathways, cell types, and cortical regions. While diagnoses converge on shared pathways, mixed-effects modeling revealed divergence of pathway effects by cell type, brain region, and gene dosage. Factor analysis identified latent dimensions aligned with clinical axes. A primary factor (F1) captured reciprocal dose-dependent effects of DUP and DEL in SCZ reflecting positive and negative effects in excitatory versus inhibitory neurons and association versus sensory cortex. SCZ and ASD were both strongly aligned with F1 but with opposing directionalities. Orthogonal factors highlighted neuronal versus non-neuronal effects in mood disorders (F2) and differential spatial distributions of DEL effects in ADHD and MDD (F3). High-impact CNVs at 16p11.2 and 22q11.2 were enriched for combinations of cell-type-specific genes involved in pathways consistent with our broader findings. These results reveal molecular and cellular mechanisms that are broadly shared across psychiatric traits but differ between diagnostic categories in context and directionality.
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