ArticleNature genetics2023
Schizophrenia risk conferred by rare protein-truncating variants is conserved across diverse human populations.
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In one paragraph
Article in Nature genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 44 papers, 2 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
44citing papers in PubMed, 2 pooled it
21.6field-weighted citation impact, top 1% of its field
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
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Who cites it
44 citing papers in PubMed, 2 syntheses or guidelines pooled it, 67 citations in OpenAlex.
- Meta-analysis of the brain transcriptomes of multiple genetic mouse models of schizophrenia highlights dysregulation in striatum and thalamus.Translational psychiatry · 2025Pooled it
- Pooled it
- Big data and psychiatry: advances, constraints and future directions.World psychiatry : official journal of the World Psychiatric Association (WPA) · 2026Article
- Analysis of rare coding variants in schizophrenia-associated genes and generalised cognition in the UK Biobank.Molecular psychiatry · 2026Article
- Roles of autophagy in brain homeostasis and disease.Nature neuroscience · 2026Review
- A mutation in the nuclear speckle and splicing factor SRRM2 is associated with multisystem proteinopathy and causes dysregulation of synapse-associated genes.RNA (New York, N.Y.) · 2026Article
- Schizophrenia and bipolar disorder risk gene AKAP11 sustains cognitive function by regulating TFEB-mediated autophagy.Cell death and differentiation · 2026Article
- Advancing risk gene discovery across the allele frequency spectrum.HGG advances · 2026Review
- Novel drug treatments for schizophrenia.Nature reviews. Drug discovery · 2026Review
- Setd1a Loss-of-function Disrupts Epigenetic Regulation of Ribosomal Genes via Altered DNA Methylation.Schizophrenia bulletin · 2026Article
- Schizophrenia-Related Synaptic Dysfunction and Abnormal Sensorimotor Gating in Akap11-Deficient Mice.Schizophrenia bulletin · 2026Article
- GRIN2A null variants confer a high risk for early-onset schizophrenia and other mental disorders and potentially enable precision therapy.Molecular psychiatry · 2026Article
- SETD1A regulates psychiatric gene networks involved in genomic stability and synaptic function in rare and sporadic schizophrenia.Nature communications · 2025Article
- Genomics of schizophrenia, bipolar disorder and major depressive disorder.Nature reviews. Genetics · 2025Review
- Mutations of schizophrenia risk gene SETD1A dysregulate synaptic function in human neurons.Molecular psychiatry · 2025Article
- Elevated synaptic PKA activity and abnormal striatal dopamine signaling in Akap11 mutant mice, a genetic model of schizophrenia and bipolar disorder.Nature communications · 2025Article
- Bipolar and schizophrenia risk gene AKAP11 encodes an autophagy receptor coupling the regulation of PKA kinase network homeostasis to synaptic transmission.Nature communications · 2025Article
- Elevated synaptic PKA activity and abnormal striatal dopamine signaling inbioRxiv : the preprint server for biology · 2025Article
- Article
- The WPA Section on Genetics in Psychiatry: scientific progress and clinical translation.World psychiatry : official journal of the World Psychiatric Association (WPA) · 2025Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
61 authors at 20 institutions in 16 countries.
Dongjing LiuDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA. dol31@pitt.edu.ORCID http://orcid.org/0000-0002-9520-7789
Dara MeyerDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Brian FennessyDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.ORCID http://orcid.org/0000-0002-6222-6190
Claudia FengDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.ORCID http://orcid.org/0000-0001-5912-1526
Esther ChengDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.ORCID http://orcid.org/0000-0001-7383-2447
Jessica S JohnsonPamela Sklar Division of Psychiatric Genomics, Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
You Jeong ParkDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Marysia-Kolbe RiederDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Steven AscolilloDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.ORCID http://orcid.org/0000-0002-9894-7838
Agathe de PinsDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.ORCID http://orcid.org/0000-0001-9988-8967
Amanda DobbynDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Dannielle LebovitchPamela Sklar Division of Psychiatric Genomics, Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Emily MoyaDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Tan-Hoang NguyenVirginia Institute for Psychiatric and Behavioral Genetics, Department of Psychiatry, Virginia Commonwealth University, Richmond, VA, USA.
Lillian WilkinsDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Arsalan HassanUniversity of Peshawar, Peshawar, Pakistan.
Psychiatric Genomics Consortium Phase 3 Targeted Sequencing of Schizophrenia Study Team
Katherine E BurdickDepartment of Psychiatry, Brigham and Women's Hospital, Boston, MA, USA.
Joseph D BuxbaumDepartment of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA.ORCID http://orcid.org/0000-0001-8898-8313
Enrico DomeniciCentre for Computational and Systems Biology, Fondazione The Microsoft Research - University of Trento, Rovereto, Italy.ORCID http://orcid.org/0000-0001-7436-6919
Sophia FrangouDepartment of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Annette M HartmannDepartment of Psychiatry and Psychotherapy, Medical University of Vienna, Vienna, Austria.
Claudine Laurent-LevinsonFaculté de Médecine Sorbonne Université, Groupe de Recherche Clinique n°15-Troubles Psychiatriques et Développement, Department of Child and Adolescent Psychiatry, Hôpital Universitaire de la Pitié-Salpêtrière, Paris, France.
Dheeraj MalhotraDepartment of Neuroscience and Rare Diseases, Roche Pharma Research and Early Development, F. Hoffmann-La Roche, Basel, Switzerland.ORCID http://orcid.org/0000-0003-4700-4407
Carlos N PatoDepartment of Psychiatry and Behavioral Sciences, SUNY Downstate College of Medicine, New York, NY, USA.
Michele T PatoDepartment of Psychiatry and Behavioral Sciences, SUNY Downstate College of Medicine, New York, NY, USA.
Kerry ResslerDepartment of Psychiatry, Harvard Medical School, Boston, MA, USA.ORCID http://orcid.org/0000-0002-5158-1103
Panos RoussosDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.ORCID http://orcid.org/0000-0002-4640-6239
Dan RujescuDepartment of Psychiatry and Psychotherapy, Medical University of Vienna, Vienna, Austria.ORCID http://orcid.org/0000-0002-1432-313X
Celso ArangoDepartment of Child and Adolescent Psychiatry, Institute of Psychiatry and Mental Health, Hospital General Universitario Gregorio Marañón, Instituto de Investigación Sanitaria Gregorio Marañón, Madrid, Spain.ORCID http://orcid.org/0000-0003-3382-4754
Alessandro BertolinoDepartment of Translational Biomedicine and Neuroscience, University of Bari Aldo Moro, Bari, Italy.
Giuseppe BlasiDepartment of Translational Biomedicine and Neuroscience, University of Bari Aldo Moro, Bari, Italy.ORCID http://orcid.org/0000-0003-0878-1131
Luisella Bocchio-ChiavettoDepartment of Theoretical and Applied Sciences, eCampus University, Novedrate, Italy.
Dominique CampionINSERM U1245, Rouen, France.
Vaughan CarrNeuroscience Research Australia, Sydney, New South Wales, Australia.ORCID http://orcid.org/0000-0002-8907-5804
Janice M FullertonNeuroscience Research Australia, Sydney, New South Wales, Australia.ORCID http://orcid.org/0000-0003-4014-4490
Massimo GennarelliGenetics Unit, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli, Brescia, Italy.
Javier González-PeñasDepartment of Child and Adolescent Psychiatry, Institute of Psychiatry and Mental Health, Hospital General Universitario Gregorio Marañón, Instituto de Investigación Sanitaria Gregorio Marañón, Madrid, Spain.ORCID http://orcid.org/0000-0002-3850-3012
Douglas F LevinsonDepartment of Psychiatry, Stanford University, Stanford, CA, USA.
Bryan MowryQueensland Brain Institute, The University of Queensland, Brisbane, Queensland, Australia.
Vishwajit L NimgaokarDepartment of Psychiatry, University of Pittsburgh School of Medicine, Western Psychiatric Hospital, Pittsburgh, PA, USA.
Giulio PergolaDepartment of Translational Biomedicine and Neuroscience, University of Bari Aldo Moro, Bari, Italy.ORCID http://orcid.org/0000-0002-9193-1841
Antonio RampinoDepartment of Translational Biomedicine and Neuroscience, University of Bari Aldo Moro, Bari, Italy.
Jorge A CervillaInstitute of Neurosciences, Biomedical Research Centre, University of Granada, Granada, Spain.ORCID http://orcid.org/0000-0001-6891-1992
Margarita RiveraInstitute of Neurosciences, Biomedical Research Centre, University of Granada, Granada, Spain.
Sibylle G SchwabMolecular Horizons, Faculty of Science, Medicine and Health, University of Wollongong, Wollongong, New South Wales, Australia.ORCID http://orcid.org/0000-0002-9370-9080
Dieter B WildenauerThe University of Western Australia, Perth, Western Australia, Australia.
Mark DalyAnalytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA.
Benjamin NealeAnalytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA.ORCID http://orcid.org/0000-0003-1513-6077
Tarjinder SinghAnalytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA.ORCID http://orcid.org/0000-0003-0601-6815
Michael C O'DonovanMRC Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK.ORCID http://orcid.org/0000-0001-7073-2379
Michael J OwenMRC Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK.ORCID http://orcid.org/0000-0003-4798-0862
James T WaltersMRC Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK.ORCID http://orcid.org/0000-0002-6980-4053
Muhammad AyubUniversity College London, London, UK.
Anil K MalhotraDepartment of Psychiatry, Zucker School of Medicine at Hofstra/Northwell, Hempstead, NY, USA.
Todd LenczDepartment of Psychiatry, Zucker School of Medicine at Hofstra/Northwell, Hempstead, NY, USA.ORCID http://orcid.org/0000-0001-8586-338X
Patrick F SullivanDepartments of Genetics and Psychiatry, University of North Carolina, Chapel Hill, NC, USA.
Pamela SklarPamela Sklar Division of Psychiatric Genomics, Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Eli A StahlPamela Sklar Division of Psychiatric Genomics, Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Laura M HuckinsPamela Sklar Division of Psychiatric Genomics, Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA. laura.huckins@mssm.edu.ORCID http://orcid.org/0000-0002-5369-6502
Alexander W CharneyDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA. alexander.charney@mssm.edu.ORCID http://orcid.org/0000-0001-8135-6858
Icahn School of Medicine at Mount Sinai · USSUNY Downstate Health Sciences University · USQueen's University · CACentro de Investigación Biomédica en Red de Salud Mental · ESEmory University · USMedical University of Vienna · ATThe University of Queensland · AUUniversidad de Granada · ESUniversity of Bari Aldo Moro · ITUniversity of Newcastle Australia · AUUNSW Sydney · AUBroad Institute · USCardiff University · GBHunter Medical Research Institute · AUInserm · FRSorbonne Université · FRThe University of Western Australia · AUBrigham and Women's Hospital · USCentre for Addiction and Mental Health · CACentro San Giovanni di Dio Fatebenefratelli · IT
Funding
Procurement and Characterization of Postmortem Brain TissueZICMH002903 · NIMH · NATIONAL INSTITUTE OF MENTAL HEALTH · PI MARENCO, STEFANO · 2009 to 2025
$56.0MVESICULAR LOCALIZATION AND FUNCTION OF PRESENILIN 1 FRAGMENTP50AG005138 · NIA · MOUNT SINAI SCHOOL OF MEDICINE OF NYU · PI GROSSMAN, HILLEL · 1985 to 2019
$37.9MQUANTITATIVE ANALYSIS OF MICROVASCULAR CHANGES IN THE AGING BRAINP01AG002219 · NIA · MOUNT SINAI SCHOOL OF MEDICINE OF NYU · PI HAROUTUNIAN, VAHRAM · 1985 to 2009
$19.2MWhite Matter Abnormalities in SchizophreniaP50MH066392 · NIMH · MOUNT SINAI SCHOOL OF MEDICINE OF NYU · PI O'DONOVAN, MICHAEL J · 2002 to 2012
$18.6MAfrican Ancestry Genomic Psychiatry CohortR01MH104964 · NIMH · SUNY DOWNSTATE MEDICAL CENTER · PI BIGDELI, TIM BERNARD, FANOUS, AYMAN H · 2015 to 2024
$16.7MUnderstanding the molecular mechanisms that contribute to neuropsychiatric symptoms in Alzheimer DiseaseR01AG067025 · NIA · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI FINKBEINER, STEVEN M, HAROUTUNIAN, VAHRAM · 2019 to 2023
$11.8MProject 5: In vivo measurement of GABA transmission in healthy controls & subjectP50MH084053 · NIMH · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI LEWIS, DAVID A · 2008 to 2012
$11.5MHigher Order Chromatin and Genetic Risk for Alzheimer's DiseaseR01AG050986 · NIA · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI ROUSSOS, PANAGIOTIS · 2015 to 2025
$11.2MInternational Cohort Collection for Bipolar DisorderR01MH085542 · NIMH · MASSACHUSETTS GENERAL HOSPITAL · PI SMOLLER, JORDAN W · 2008 to 2012
$10.7MUnderstanding the protective and neuroinflammatory role of human brain immune cells in Alzheimer DiseaseR01AG065582 · NIA · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI HAROUTUNIAN, VAHRAM, ROUSSOS, PANAGIOTIS · 2020 to 2024
$9.9MCis-Regulatory Epigenome Mappings in SchizophreniaU01MH103392 · NIMH · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI AKBARIAN, SCHAHRAM, SKLAR, PAMELA · 2014 to 2017
$7.6MLatino Ancestry Genomic Psychiatry CohortR01MH123451 · NIMH · SUNY DOWNSTATE MEDICAL CENTER · PI BIGDELI, TIM BERNARD, FANOUS, AYMAN H · 2020 to 2025
$7.1MCSRD VA I01 CX000995Intramural NIH HHS ZIC MH002903Medical Research Council MR/L010305/1Medical Research Council MR/P005748/1NIA NIH HHS P01 AG002219NIA NIH HHS P50 AG005138NIA NIH HHS R01 AG050986NIA NIH HHS R01 AG065582NIA NIH HHS R01 AG067025NIDA NIH HHS HHSN271201300031CNIMH NIH HHS P50 MH066392NIMH NIH HHS P50 MH084053NIMH NIH HHS R01 MH075916NIMH NIH HHS R01 MH080405NIMH NIH HHS R01 MH085542NIMH NIH HHS R01 MH093725NIMH NIH HHS R01 MH097276NIMH NIH HHS R01 MH100125NIMH NIH HHS R01 MH104964NIMH NIH HHS R01 MH106056NIMH NIH HHS R01 MH109677NIMH NIH HHS R01 MH109897NIMH NIH HHS R01 MH110921NIMH NIH HHS R01 MH113619NIMH NIH HHS R01 MH118278NIMH NIH HHS R01 MH123451NIMH NIH HHS R01 MH124839NIMH NIH HHS R01 MH124851NIMH NIH HHS R01 MH125246NIMH NIH HHS R37 MH057881NIMH NIH HHS U01 MH103392NIMH NIH HHS U01 MH109536NIMH NIH HHS U01 MH116442
Abstract
Schizophrenia (SCZ) is a chronic mental illness and among the most debilitating conditions encountered in medical practice. A recent landmark SCZ study of the protein-coding regions of the genome identified a causal role for ten genes and a concentration of rare variant signals in evolutionarily constrained genes
Indexed as
Autistic DisorderSchizophreniaAllelesGenetic Predisposition to DiseaseGenome-Wide Association StudyHumans
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