ArticleNature2022
Rare coding variants in ten genes confer substantial risk for schizophrenia.
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In one paragraph
Article in Nature, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 528 papers, 5 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
528citing papers in PubMed, 5 pooled it
147.9field-weighted citation impact, top 1% of its field
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
528 citing papers in PubMed, 5 syntheses or guidelines pooled it, 840 citations in OpenAlex.
- Contribution of copy number variants to schizophrenia in East Asian populations.Nature genetics · 2026Pooled it
- Radiographic choice for skeletal maturation assessment: a systematic review of Cervical Vertebrae Method and Middle Phalanx Method.Oral radiology · 2026Pooled it
- Dissecting Schizophrenia Biology Using Pleiotropy With Cognitive Genomics.Biological psychiatry · 2025Pooled it
- Meta-analysis of the brain transcriptomes of multiple genetic mouse models of schizophrenia highlights dysregulation in striatum and thalamus.Translational psychiatry · 2025Pooled it
- Retinoic Acid-Induced 1 Gene and Neuropsychiatric Diseases: A Systematic Review.Expert reviews in molecular medicine · 2025Pooled it
- Developmentally dynamic, non-convergent transcriptomic profiles in CNV models for schizophrenia risk.Molecular psychiatry · 2026Article
- Neuropsychiatry genetics in Africa.Nature communications · 2026Review
- Genetic architecture of postpartum psychosis: from common to rare genetic variation.Molecular psychiatry · 2026Article
- Article
- Rethinking schizophrenia: insights from genomics and implications for research.Molecular psychiatry · 2026Review
- Monoallelic loss-of-function variants in ZNF536 are associated with a neurodevelopmental disorder with prominent behavioral features.American journal of human genetics · 2026Article
- Article
- Perinatal insults, genetic susceptibility, and the pathogenesis of neurodevelopmental disorders: from epigenetic remodeling to neural circuit dysfunction-a narrative review.Translational pediatrics · 2026Review
- Convergent multidimensional neural phenotypes in human patients and schizophrenia-relevant mouse models identify reduced recurrent excitation in cortical circuits.medRxiv : the preprint server for health sciences · 2026Article
- Analysis of Rare Coding Variation Identifies New Genetic Contributors to Schizophrenia.bioRxiv : the preprint server for biology · 2026Article
- Toward actionable biomarkers in psychiatry: a collaborative roadmap for precision clinical trials. An ACNP position paper.NPP - digital psychiatry and neuroscience · 2026Article
- Common genetic variants are associated with increased likelihood of latent co-occurring neurodevelopmental and mental health factors among autistic individuals.Molecular psychiatry · 2026Article
- The contribution of common and rare genetic variation to emotional and behavioural symptoms in childhood and adolescence.Molecular psychiatry · 2026Article
- Epilepsy as a Disorder of Neuroimmune Metabolism: The Kynurenine Pathway as a Link Between Cognitive and Psychiatric Dysfunction.Biomolecules · 2026Review
- Schizophrenia: Converging Neurobiological Mechanisms and Emerging Therapeutic Strategies.Biomolecules · 2026Review
468 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
111 authors at 20 institutions in 10 countries.
Tarjinder SinghAnalytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA. tsingh@broadinstitute.org.ORCID http://orcid.org/0000-0003-0601-6815
Timothy PoterbaAnalytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA.
David CurtisUCL Genetics Institute, University College London, London, UK.
Huda AkilDepartment of Psychiatry, Michigan Neuroscience Institute, Medical School, University of Michigan, Ann Arbor, MI, USA.
Mariam Al EissaDivision of Psychiatry, University College London, London, UK.
Jack D BarchasWeill Cornell Medical College, New York, NY, USA.
Nicholas BassDivision of Psychiatry, University College London, London, UK.
Tim B BigdeliDepartment of Psychiatry and Behavioral Sciences, SUNY Downstate College of Medicine, Brooklyn, NY, USA.
Gerome BreenSocial Genetic and Developmental Psychiatry, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.
Evelyn J BrometDepartment of Psychiatry and Behavioral Health, Health Sciences Center, Stony Brook University, Stony Brook, NY, USA.
Peter F BuckleyDepartment of Psychiatry, Virginia Commonwealth University, Richmond, VA, USA.
William E BunneyDepartment of Psychiatry and Human Behavior, University of California, Irvine, Irvine, CA, USA.
Jonas Bybjerg-GrauholmLundbeck Foundation Initiative for Integrative Psychiatric Research, Copenhagen, Denmark.
William F ByerleyDepartment of Psychiatry, University of California, San Francisco, San Francisco, CA, USA.
Sinéad B ChapmanStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Wei J ChenCollege of Public Health, National Taiwan University, Taipei, Taiwan.
Claire ChurchhouseAnalytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA.
Nicholas CraddockNational Centre for Mental Health, Cardiff University, Cardiff, UK.
Caroline M CusickStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Lynn DeLisiDepartment of Psychiatry, Cambridge Health Alliance, Cambridge Hospital, Cambridge, MA, USA.
Sheila DodgeGenomics Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Michael A EscamillaTexas Tech University Health Sciences Center, El Paso, TX, USA.
Saana EskelinenUniversity of Helsinki and Helsinki University Hospital, Helsinki, Finland.
Ayman H FanousDepartment of Psychiatry and Behavioral Sciences, SUNY Downstate Medical Center, Brooklyn, NY, USA.
Stephen V FaraoneDepartment of Psychiatry and Behavioral Sciences, SUNY Upstate Medical University, Syracuse, NY, USA.
Alessia FiorentinoDivision of Psychiatry, University College London, London, UK.
Laurent FrancioliAnalytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA.
Stacey B GabrielGenomics Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Diane GageStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Sarah A Gagliano TaliunFaculté de Médecine, Université de Montréal, Montreal, Quebec, Canada.
Andrea GannaAnalytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA.
Giulio GenoveseStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
David C GlahnDepartment of Psychiatry, Boston Children's Hospital, Boston, MA, USA.
Jakob GroveLundbeck Foundation Initiative for Integrative Psychiatric Research, Copenhagen, Denmark.
Mei-Hua HallMcLean Hospital, Harvard Medical School, Belmont, MA, USA.
Eija HämäläinenInstitute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland.
Henrike O HeyneAnalytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA.
Matti HoliDepartment of Psychiatry, Helsinki University Hospital, University of Helsinki, Helsinki, Finland.
David M HougaardLundbeck Foundation Initiative for Integrative Psychiatric Research, Copenhagen, Denmark.
Daniel P HowriganAnalytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA.
Hailiang HuangAnalytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA.
Hai-Gwo HwuDepartment of Psychiatry, National Taiwan University, Taipei, Taiwan.
René S KahnDepartment of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Hyun Min KangDepartment of Biostatistics and Center for Statistical Genetics, University of Michigan, Ann Arbor, MI, USA.
Konrad J KarczewskiAnalytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA.
George KirovMRC Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK.
James A KnowlesDepartment of Cell Biology, SUNY Downstate Medical Center, Brooklyn, NY, USA.
Francis S LeeWeill Cornell Medical College, New York, NY, USA.
Douglas S LehrerDepartment of Psychiatry, Wright State University, Dayton, OH, USA.
Francesco LescaiLundbeck Foundation Initiative for Integrative Psychiatric Research, Copenhagen, Denmark.
Dolores MalaspinaDepartment of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Stephen R MarderDepartment of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Steven A McCarrollStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Andrew M McIntoshUniversity of Edinburgh, Edinburgh, UK.
Helena MedeirosDepartment of Psychiatry and Behavioral Sciences, SUNY Downstate Medical Center, Brooklyn, NY, USA.
Lili MilaniInstitute of Genomics, University of Tartu, Tartu, Estonia.
Christopher P MorleyDepartment of Psychiatry and Behavioral Sciences, SUNY Upstate Medical University, Syracuse, NY, USA.
Derek W MorrisNational University of Ireland, Galway, Ireland.
Preben Bo MortensenAarhus University, Aarhus, Denmark.
Richard M MyersHudsonAlpha Institute for Biotechnology, Huntsville, AL, USA.
Merete NordentoftLundbeck Foundation Initiative for Integrative Psychiatric Research, Copenhagen, Denmark.
Niamh L O'BrienDivision of Psychiatry, University College London, London, UK.
Ana Maria OlivaresStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Dost OngurMcLean Hospital, Harvard Medical School, Belmont, MA, USA.
Willem H OuwehandUniversity of Cambridge, Cambridge, UK.
Duncan S PalmerAnalytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA.
Tiina PaunioDepartment of Psychiatry, University of Helsinki, Helsinki, Finland.
Digby QuestedOxford Health NHS Foundation Trust, Oxford, UK.
Mark H RapaportDepartment of Psychiatry and Behavioral Sciences, Emory University, Atlanta, GA, USA.
Elliott ReesMRC Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK.
Brandi RollinsDepartment of Psychiatry and Human Behavior, University of California, Irvine, Irvine, CA, USA.
F Kyle SatterstromAnalytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA.
Alan SchatzbergPsychiatric and Neurodevelopmental Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.
Edward ScolnickStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Laura J ScottDepartment of Biostatistics and Center for Statistical Genetics, University of Michigan, Ann Arbor, MI, USA.
Sally I SharpDivision of Psychiatry, University College London, London, UK.
Pamela SklarDepartment of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Jordan W SmollerPsychiatric and Neurodevelopmental Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.
Janet L SobellDepartment of Psychiatry and the Behavioral Sciences, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.
Matthew SolomonsonProgram in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, USA.
Eli A StahlDepartment of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Christine R StevensStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Jaana SuvisaariFinnish Institute for Health and Welfare, Helsinki, Finland.
Grace TiaoProgram in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, USA.
Stanley J WatsonDepartment of Psychiatry, Michigan Neuroscience Institute, Medical School, University of Michigan, Ann Arbor, MI, USA.
Nicholas A WattsProgram in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, USA.
Douglas H BlackwoodDepartment of Psychiatry, University of Edinburgh, Edinburgh, UK.
Anders D BørglumLundbeck Foundation Initiative for Integrative Psychiatric Research, Copenhagen, Denmark.
Bruce M CohenMcLean Hospital, Harvard Medical School, Belmont, MA, USA.
Aiden P CorvinTrinity College Dublin, Dublin, Ireland.
Tõnu EskoInstitute of Genomics, University of Tartu, Tartu, Estonia.
Nelson B FreimerDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
Stephen J GlattDepartment of Psychiatry and Behavioral Sciences, SUNY Upstate Medical University, Syracuse, NY, USA.
Christina M HultmanSchool of Medicine, Johns Hopkins University, Baltimore, MD, USA.
Andrew McQuillinDivision of Psychiatry, University College London, London, UK.
Aarno PalotieAnalytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA.
Carlos N PatoDepartment of Psychiatry and Behavioral Sciences, SUNY Downstate College of Medicine, Brooklyn, NY, USA.
Michele T PatoDepartment of Psychiatry and Behavioral Sciences, SUNY Downstate College of Medicine, Brooklyn, NY, USA.
Ann E PulverSchool of Medicine, Johns Hopkins University, Baltimore, MD, USA.
David St ClairUniversity of Aberdeen, Aberdeen, UK.
Ming T TsuangCenter for Behavioral Genomics, Department of Psychiatry, University of California, San Diego, La Jolla, CA, USA.
Marquis P VawterDepartment of Psychiatry and Human Behavior, University of California, Irvine, Irvine, CA, USA.
James T WaltersMRC Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK.
Thomas M WergeLundbeck Foundation Initiative for Integrative Psychiatric Research, Copenhagen, Denmark.
Roel A OphoffCenter for Neurobehavioral Genetics, University of California, Los Angeles, Los Angeles, CA, USA.
Patrick F SullivanKarolinska Institute, Solna, Sweden.
Michael J OwenMRC Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK.
Michael BoehnkeDepartment of Biostatistics and Center for Statistical Genetics, University of Michigan, Ann Arbor, MI, USA.
Michael C O'DonovanMRC Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK.
Benjamin M Neale *Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA. bneale@broadinstitute.org.ORCID http://orcid.org/0000-0003-1513-6077
Mark J Daly *Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA. mjdaly@atgu.mgh.harvard.edu.ORCID http://orcid.org/0000-0002-0949-8752
Broad Institute · USSUNY Downstate Health Sciences University · USUniversity College London · GBCardiff University · GBUniversity of Helsinki · FIUniversity of Michigan · USAarhus University · DKHarvard University · USIcahn School of Medicine at Mount Sinai · USSUNY Upstate Medical University · USUniversity of California, Irvine · USCornell University · USJohns Hopkins University · USNational Taiwan University · TWStatens Serum Institut · DKUniversity of Copenhagen · DKUniversity of Edinburgh · GBUniversity of Tartu · EEBoston Children's Hospital · USCambridge Health Alliance · US
Funding
Large Scale Sequencing and Analysis of GenomesU54HG003067 · NHGRI · MASSACHUSETTS INSTITUTE OF TECHNOLOGY · PI GABRIEL, STACEY, LANDER, ERIC S · 2004 to 2015
$568.6MSmartphone-Based "Burst" Cognitive AssessmentsP01AG003991 · NIA · WASHINGTON UNIVERSITY · PI JOHN MORRIS · 1985 to 2026
$69.5MWASHINGTON UNIVERSITY ALZHEIMERS DISEASE RESEARCH CENTERP50AG005681 · NIA · WASHINGTON UNIVERSITY · PI CRUCHAGA, CARLOS · 1985 to 2019
$52.1MAfrican Ancestry Genomic Psychiatry CohortR01MH104964 · NIMH · SUNY DOWNSTATE MEDICAL CENTER · PI BIGDELI, TIM BERNARD, FANOUS, AYMAN H · 2015 to 2024
$16.7MGenomic Psychiatry CohortR01MH085548 · NIMH · UNIVERSITY OF SOUTHERN CALIFORNIA · PI PATO, CARLOS N, PATO, MICHELE T · 2008 to 2012
$16.3MWhole Genome Sequencing for Schizophrenia and Bipolar Disorder in the GPCU01MH105641 · NIMH · BROAD INSTITUTE, INC. · PI MCCARROLL, STEVEN ANDREW · 2014 to 2018
$13.6MSubstance Abuse & Behavioral Disinhibition: Integrating Genes & EnvironmentU01DA024417 · NIDA · UNIVERSITY OF MINNESOTA · PI IACONO, WILLIAM G. · 2007 to 2010
$10.8MStudies of Rare Genetic Variation in the Isolated Population of SardiniaR01HL117626 · NHLBI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI ABECASIS, GONCALO · 2013 to 2016
$10.5MGenetic Analysis and Manipulation Core (GAEC)P50HD105351 · NICHD · BOSTON CHILDREN'S HOSPITAL · PI SCOTT Loren POMEROY, MUSTAFA SAHIN · 2021 to 2026
$9.4MTWIN STUDY OF FEMALE ALCOHOLISMS AND OTHER DISORDERSR01AA009367 · NIAAA · UNIVERSITY OF MINNESOTA TWIN CITIES · PI MCGUE, MATTHEW K. · 1992 to 2013
$9.0M1/2 Genomic Strategies to Identify High-impact Psychiatric Risk VariantsU01MH105578 · NIMH · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI FREIMER, NELSON B., GESCHWIND, DANIEL H · 2014 to 2018
$8.5MLatino Ancestry Genomic Psychiatry CohortR01MH123451 · NIMH · SUNY DOWNSTATE MEDICAL CENTER · PI BIGDELI, TIM BERNARD, FANOUS, AYMAN H · 2020 to 2025
$7.1MMedical Research Council G0800509Medical Research Council MR/L010305/1NHGRI NIH HHS R01 HG007022NHGRI NIH HHS U54 HG003067NHLBI NIH HHS R01 HL117626NHLBI NIH HHS U01 HL117626NIAAA NIH HHS R01 AA009367NIAAA NIH HHS R37 AA009367NIA NIH HHS P01 AG003991NIA NIH HHS P50 AG005681NIA NIH HHS R01 AG035083NIA NIH HHS R01 AG064955NICHD NIH HHS P50 HD105351NIDA NIH HHS R01 DA005147NIDA NIH HHS R01 DA024417NIDA NIH HHS R01 DA036216NIDA NIH HHS R01 DA037904NIDA NIH HHS R37 DA005147NIDA NIH HHS U01 DA024417NIH HHS 5R01 AG06495502NIMH NIH HHS R01 MH085521NIMH NIH HHS R01 MH085548NIMH NIH HHS R01 MH094145NIMH NIH HHS R01 MH104964NIMH NIH HHS R01 MH116037NIMH NIH HHS R01 MH123451NIMH NIH HHS R01 MH124851NIMH NIH HHS U01 MH105578NIMH NIH HHS U01 MH105641NIMH NIH HHS U01 MH105653NIMH NIH HHS U01 MH105666NIMH NIH HHS U01 MH109539NINDS NIH HHS P30 NS069329
Abstract
Rare coding variation has historically provided the most direct connections between gene function and disease pathogenesis. By meta-analysing the whole exomes of 24,248 schizophrenia cases and 97,322 controls, we implicate ultra-rare coding variants (URVs) in 10 genes as conferring substantial risk for schizophrenia (odds ratios of 3-50, P < 2.14 × 10
Indexed as
MutationNeurodevelopmental DisordersSchizophreniaCase-Control StudiesExomeGenetic Predisposition to DiseaseHumansReceptors, N-Methyl-D-AspartateReceptors, N-Methyl-D-Aspartate
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