Evidence map›Paper›PMID 32015465›Full record

ArticleMolecular psychiatry2021

Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion.

Isabelle Cleynen, Worrawat Engchuan, Matthew S Hestand, Tracy Heung, Aaron M Holleman, H Richard Johnston, Thomas Monfeuga, Donna M McDonald-McGinn, Raquel E Gur, Bernice E Morrow and 115 more

Open access · bronzeAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Molecular psychiatry, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 64 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
64citing papers in PubMed, 1 pooled it
8.2field-weighted citation impact, top 2% of its field
1 · What the graph read from it

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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

64 citing papers in PubMed, 1 synthesis or guideline pooled it, 133 citations in OpenAlex.

  1. Pooled it
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  13. Obesity and metabolic syndrome in adults with a 22q11.2 microdeletion.International journal of obesity (2005) · 2025
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4 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

125 authors at 20 institutions in 13 countries.

Isabelle Cleynen *Department of Human Genetics, KU Leuven, Leuven, Belgium.
Worrawat Engchuan *The Centre for Applied Genomics (TCAG), The Hospital for Sick Children, Toronto, ON, Canada.
Matthew S Hestand *Department of Human Genetics, KU Leuven, Leuven, Belgium.
Tracy Heung *Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, ON, Canada.
Aaron M Holleman *Department of Epidemiology, Emory University, Atlanta, GA, USA.
H Richard Johnston *Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA.
Thomas Monfeuga *MRC Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, School of Medicine, Cardiff University, Cardiff, UK.
Donna M McDonald-McGinnDepartment of Pediatrics, Perelman School of Medicine of the University of Pennsylvania, Philadelphia, PA, USA.ORCID http://orcid.org/0000-0003-4077-250X
Raquel E GurDepartment of Psychiatry and Lifespan Brain Institute, Penn Medicine-CHOP, University of Pennsylvania, Philadelphia, PA, USA.
Bernice E MorrowDepartment of Genetics, Albert Einstein College of Medicine, Bronx, NY, USA.
Ann SwillenDepartment of Human Genetics, KU Leuven, Leuven, Belgium.
Jacob A S VorstmanChildren's Hospital of Philadelphia, Philadelphia, PA, USA.ORCID http://orcid.org/0000-0002-1677-3126
Carrie E BeardenDepartments of Psychiatry and Biobehavioral Sciences and Psychology, Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, CA, USA.ORCID http://orcid.org/0000-0002-8516-923X
Eva W C ChowClinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, ON, Canada.
Marianne van den BreeMRC Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, School of Medicine, Cardiff University, Cardiff, UK.
Beverly S EmanuelDivision of Human Genetics and 22q and You Center, the Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Joris R VermeeschDepartment of Human Genetics, KU Leuven, Leuven, Belgium.
Stephen T WarrenDepartment of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA.
Michael J OwenMRC Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, School of Medicine, Cardiff University, Cardiff, UK.ORCID http://orcid.org/0000-0003-4798-0862
Pankaj ChopraDepartment of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA.
David J CutlerDepartment of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA.
Richard DuncanDepartment of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA.
Alex V KotlarDepartment of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA.
Jennifer G MulleDepartment of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA.
Anna J VossDepartment of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA.
Michael E ZwickDepartment of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA.ORCID http://orcid.org/0000-0001-9772-8257
Alexander DiacouDepartment of Genetics, Albert Einstein College of Medicine, Bronx, NY, USA.
Aaron GoldenDepartment of Genetics, Albert Einstein College of Medicine, Bronx, NY, USA.ORCID http://orcid.org/0000-0001-8208-4292
Tingwei GuoDepartment of Genetics, Albert Einstein College of Medicine, Bronx, NY, USA.
Jhih-Rong LinDepartment of Genetics, Albert Einstein College of Medicine, Bronx, NY, USA.
Tao WangDepartment of Epidemiology & Population Health, Albert Einstein College of Medicine, Bronx, NY, USA.
Zhengdong ZhangDepartment of Genetics, Albert Einstein College of Medicine, Bronx, NY, USA.
Yingjie ZhaoDepartment of Genetics, Albert Einstein College of Medicine, Bronx, NY, USA.
Christian MarshallDepartment of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada.ORCID http://orcid.org/0000-0002-4003-7671
Daniele MericoThe Centre for Applied Genomics (TCAG), The Hospital for Sick Children, Toronto, ON, Canada.ORCID http://orcid.org/0000-0002-3728-4401
Andrea JinDivision of Human Genetics and 22q and You Center, the Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Brenna LilleyDivision of Human Genetics and 22q and You Center, the Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Harold I SalmonsDivision of Human Genetics and 22q and You Center, the Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Oanh TranDivision of Human Genetics and 22q and You Center, the Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Peter HolmansMRC Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, School of Medicine, Cardiff University, Cardiff, UK.
Antonio PardinasMRC Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, School of Medicine, Cardiff University, Cardiff, UK.ORCID http://orcid.org/0000-0001-6845-7590
James T R WaltersMRC Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, School of Medicine, Cardiff University, Cardiff, UK.
Wolfram DemaerelDepartment of Human Genetics, KU Leuven, Leuven, Belgium.
Erik BootDalglish Family 22q Clinic, Toronto General Hospital, University Health Network, Toronto, ON, Canada.ORCID http://orcid.org/0000-0002-0593-1539
Nancy J ButcherClinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, ON, Canada.ORCID http://orcid.org/0000-0002-5152-0108
Gregory A CostainClinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, ON, Canada.
Chelsea LowtherClinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, ON, Canada.
Rens EversSchool for Mental Health and Neuroscience, Maastricht University, Maastricht, The Netherlands.
Therese A M J van AmelsvoortSchool for Mental Health and Neuroscience, Maastricht University, Maastricht, The Netherlands.
Esther van DuinSchool for Mental Health and Neuroscience, Maastricht University, Maastricht, The Netherlands.
Claudia VingerhoetsSchool for Mental Health and Neuroscience, Maastricht University, Maastricht, The Netherlands.
Jeroen BreckpotDepartment of Human Genetics, KU Leuven, Leuven, Belgium.
Koen DevriendtDepartment of Human Genetics, KU Leuven, Leuven, Belgium.
Elfi VergaelenCenter for Human Genetics, University Hospitals Leuven, Leuven, Belgium.
Annick VogelsDepartment of Human Genetics, KU Leuven, Leuven, Belgium.
T Blaine CrowleyDivision of Human Genetics and 22q and You Center, the Children's Hospital of Philadelphia, Philadelphia, PA, USA.ORCID http://orcid.org/0000-0002-3272-5458
Daniel E McGinnDivision of Human Genetics and 22q and You Center, the Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Edward M MossDivision of Human Genetics and 22q and You Center, the Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Robert J SharkusDivision of Human Genetics and 22q and You Center, the Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Marta UnoltDivision of Human Genetics and 22q and You Center, the Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Elaine H ZackaiDepartment of Pediatrics, Perelman School of Medicine of the University of Pennsylvania, Philadelphia, PA, USA.
Monica E CalkinsDepartment of Psychiatry and Lifespan Brain Institute, Penn Medicine-CHOP, University of Pennsylvania, Philadelphia, PA, USA.
Robert S GallagherDepartment of Psychiatry and Lifespan Brain Institute, Penn Medicine-CHOP, University of Pennsylvania, Philadelphia, PA, USA.
Ruben C GurDepartment of Psychiatry and Lifespan Brain Institute, Penn Medicine-CHOP, University of Pennsylvania, Philadelphia, PA, USA.
Sunny X TangDepartment of Psychiatry and Lifespan Brain Institute, Penn Medicine-CHOP, University of Pennsylvania, Philadelphia, PA, USA.
Rosemarie FritschUniversidad de Chile, Santiago, Chile.
Claudia OrnsteinUniversidad de Chile, Santiago, Chile.
Gabriela M RepettoClinica Alemana Universidad del Desarrollo, Santiago, Chile.
Elemi BreetveltDepartment of Psychiatry, University of Toronto, Toronto, ON, Canada.
Sasja N DuijffDepartment of Pediatrics, University Medical Center Utrecht, Utrecht, Netherlands.
Ania FiksinskiClinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, ON, Canada.ORCID http://orcid.org/0000-0002-8169-7721
Hayley MossMRC Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, School of Medicine, Cardiff University, Cardiff, UK.
Maria NiarchouMRC Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, School of Medicine, Cardiff University, Cardiff, UK.
Kieran C MurphyRoyal College of Surgeons in Ireland, Dublin, Ireland.
Sarah E PrasadRoyal College of Surgeons in Ireland, Dublin, Ireland.
Eileen M DalyDepartment of Forensic and Neurodevelopmental Sciences, Institute of Psychiatry, Psychology & Neuroscience (IoPPN), King's College London, London, UK.
Maria GudbrandsenDepartment of Forensic and Neurodevelopmental Sciences, Institute of Psychiatry, Psychology & Neuroscience (IoPPN), King's College London, London, UK.ORCID http://orcid.org/0000-0002-0464-2065
Clodagh M MurphyDepartment of Forensic and Neurodevelopmental Sciences, Institute of Psychiatry, Psychology & Neuroscience (IoPPN), King's College London, London, UK.ORCID http://orcid.org/0000-0002-6350-0155
Declan G MurphyDepartment of Forensic and Neurodevelopmental Sciences, Institute of Psychiatry, Psychology & Neuroscience (IoPPN), King's College London, London, UK.ORCID http://orcid.org/0000-0002-6664-7451
Antonio BuzzancaDepartment of Human Neurosciences, University Sapienza of Rome, Rome, Italy.
Fabio Di FabioDepartment of Human Neurosciences, University Sapienza of Rome, Rome, Italy.
Maria C DigilioOspedale Bambino Gesu Pediatric Hospital, Rome, Italy.
Maria PontilloChild and Adolescence Neuropsychiatry Unit, Department of Neuroscience, IRCSS Bambino Gesù Children's Hospital of Rome, Rome, Italy.
Bruno MarinoSapienza University, Rome, Italy.
Stefano VicariChild and Adolescence Neuropsychiatry Unit, Department of Neuroscience, IRCSS Bambino Gesù Children's Hospital of Rome, Rome, Italy.
Karlene ColemanDepartment of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA.
Joseph F CubellsDepartment of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA.
Opal Y OusleyDepartment of Psychiatry and Behavioral Sciences, Emory University School of Medicine, Atlanta, GA, USA.
Miri CarmelFelsenstein Medical Research Center, Petach Tikva, Israel.
Doron GothelfSackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Ehud Mekori-DomachevskySackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Elena MichaelovskyFelsenstein Medical Research Center, Petach Tikva, Israel.
Ronnie WeinbergerThe Child Psychiatry Division, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel.
Abraham WeizmanFelsenstein Medical Research Center, Petach Tikva, Israel.ORCID http://orcid.org/0000-0002-9765-8938
Leila KushanDepartments of Psychiatry and Biobehavioral Sciences and Psychology, Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, CA, USA.
Maria JalbrzikowskiDepartment of Psychiatry, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.
Marco ArmandoDevelopmental Imaging and Psychopathology, Department of Psychiatry, University of Geneva, Geneva, Switzerland.
Stéphan EliezDevelopmental Imaging and Psychopathology, Department of Psychiatry, University of Geneva, Geneva, Switzerland.
Corrado SandiniDevelopmental Imaging and Psychopathology, Department of Psychiatry, University of Geneva, Geneva, Switzerland.
Maude SchneiderDevelopmental Imaging and Psychopathology, Department of Psychiatry, University of Geneva, Geneva, Switzerland.
Frédérique Sloan BénaDepartment of Medical Genetics, Geneva University Hospitals, Geneva, Switzerland.
Kevin M AntshelDepartment of Psychology, Syracuse University, Syracuse, NY, USA.
Wanda FremontDepartment of Psychiatry and Behavioral Sciences, SUNY Upstate Medical University, Syracuse, NY, USA.
Wendy R KatesDepartment of Psychiatry and Behavioral Sciences, SUNY Upstate Medical University, Syracuse, NY, USA.
Raoul BelzeauxPôle de psychiatrie, Hopital Sainte Marguerite, Batiment Solaris, APHM, Marseille, France.
Tiffany BusaDepartement de Genetique Medicale Hôpital d'Enfants de la Timone, APHM, Marseille, France.
Nicole PhilipDepartement de Genetique Medicale Aix Marseille Univ, INSERM, GMGF, APHM, Marseille, France.
Linda E CampbellUniversity of Newcastle, Callaghan, Australia.
Kathryn L McCabeUniversity of Newcastle, Callaghan, Australia.ORCID http://orcid.org/0000-0003-4758-5336
Stephen R HooperDepartment of Allied Health Sciences, School of Medicine, University of North Carolina-Chapel Hill, Chapel Hill, NC, USA.
Kelly SchochDepartment of Pediatrics, Division of Medical Genetics, Duke University School of Medicine, Durham, NC, USA.
Vandana ShashiDepartment of Pediatrics, Division of Medical Genetics, Duke University School of Medicine, Durham, NC, USA.
Tony J SimonMIND Institute and Department of Psychiatry and Behavioral Sciences, University of California Davis, Davis, CA, USA.
Flora TassoneDepartment of Microbiology and Molecular Medicine, University of California Davis, Davis, CA, USA.
Celso ArangoDepartment of Child and Adolescent Psychiatry, Hospital General Universitario Gregorio Marañón, IiSGM, CIBERSAM, School of Medicine, Universidad Complutense, Madrid, Spain.
David FraguasDepartment of Child and Adolescent Psychiatry, Hospital General Universitario Gregorio Marañón, IiSGM, CIBERSAM, School of Medicine, Universidad Complutense, Madrid, Spain.
Sixto García-MiñaúrInstitute of Medical and Molecular Genetics (INGEMM), La Paz University Hospital, Madrid, Spain.
Jaume Morey-CanyellesHospital Universitari Son Espases, Palma, Spain.
Jordi RosellHospital Universitari Son Espases, Palma, Spain.
Damià H SuñerLaboratorio Unidad de Diagnóstico Molecular y Genética Clínica, Hospital Universitari Son Espases, Palma de Mallorca, Spain.
Jasna Raventos-SimicHospital Universitari Son Espases, Palma, Spain.
International 22q11.2DS Brain and Behavior Consortium
Michael P EpsteinDepartment of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA. mpepste@emory.edu.
Nigel M WilliamsMRC Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, School of Medicine, Cardiff University, Cardiff, UK. williamsnm@cardiff.ac.uk.
Anne S BassettClinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, ON, Canada. anne.bassett@utoronto.ca.
Emory University · USChildren's Hospital of Philadelphia · USCardiff University · GBAlbert Einstein College of Medicine · USKU Leuven · BECentre for Addiction and Mental Health · CATel Aviv University · ILUniversity of Pennsylvania Health System · USHospital Universitario Son Espases · ESKing's College London · GBMaastricht University · NLUniversity of Geneva · CHBambino Gesù Children's Hospital · ITSapienza University of Rome · ITUniversity Health Network · CADuke University · USHospital for Sick Children · CAHospital General Universitario Gregorio Marañón · ESRoyal College of Surgeons in Ireland · IESUNY Upstate Medical University · US

Funding

Project 2: Genetic Mechanisms of Non-syndromic Congenital Cardiac DefectsP01HD070454 · NICHD · ALBERT EINSTEIN COLLEGE OF MEDICINE, INC · PI MORROW, BERNICE E · 2011 to 2020
$14.0M
NMDA Receptor Hypofunction in the Amygdala of Schizophrenia PatientsP50MH096891 · NIMH · UNIVERSITY OF PENNSYLVANIA · PI BILKER, WARREN B. · 2012 to 2016
$10.6M
Training U54EB020403 · NIBIB · UNIVERSITY OF SOUTHERN CALIFORNIA · PI THOMPSON, PAUL M · 2014 to 2018
$10.1M
Recruitment CoreU54NS091859 · NINDS · EMORY UNIVERSITY · PI WARREN, STEPHEN T. · 2014 to 2019
$9.1M
Biomarkers for Psychosis in Velocardiofacial SyndromeR01MH064824 · NIMH · UPSTATE MEDICAL UNIVERSITY · PI KATES, WENDY · 2002 to 2015
$7.3M
1/2-Brain-Behavior and Genetic Studies of the 22q11DSU01MH087626 · NIMH · UNIVERSITY OF PENNSYLVANIA · PI GUR, RAQUEL E · 2010 to 2014
$6.5M
2/5 International Consortium on Brain and Behavior in 22q11.2 Deletion SyndromeU01MH101720 · NIMH · EMORY UNIVERSITY · PI WARREN, STEPHEN T. · 2013 to 2016
$6.2M
SCHIZOPHRENIA: A NEUROPSYCHIATRIC PERSPECTIVET32MH019112 · NIMH · UNIVERSITY OF PENNSYLVANIA · PI GUR, RAQUEL E · 1990 to 2024
$6.2M
Neurodevelopment and Psychosis in the 22q11.2 Deletion SyndromeR01MH085953 · NIMH · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI BEARDEN, CARRIE E · 2010 to 2020
$6.2M
Support for the Rose F. Kennedy IDDRCU54HD090260 · NICHD · ALBERT EINSTEIN COLLEGE OF MEDICINE, INC · PI WALKLEY, STEVEN UPSHAW · 2016 to 2020
$6.0M
2/2 Brain, Behavior and Genetic Studies of the 22q11 Deletion StudiesU01MH087636 · NIMH · CHILDREN'S HOSP OF PHILADELPHIA · PI EMANUEL, BEVERLY S · 2010 to 2014
$4.6M
Cognitive-Affective Psychosis Proneness Risk and protective factors in 22q11.2DSR01MH107108 · NIMH · UNIVERSITY OF CALIFORNIA AT DAVIS · PI ANGKUSTSIRI, KATHLEEN · 2015 to 2020
$3.4M
Medical Research Council MR/L010305/1Medical Research Council MR/N026063/1NIBIB NIH HHS U54 EB020403NICHD NIH HHS P01 HD070454NICHD NIH HHS U54 HD090260NIGMS NIH HHS R01 GM117946NIMH NIH HHS K01 MH112774NIMH NIH HHS P50 MH096891NIMH NIH HHS R01 MH064824NIMH NIH HHS R01 MH085953NIMH NIH HHS R01 MH100917NIMH NIH HHS R01 MH107108NIMH NIH HHS R01 MH107235NIMH NIH HHS R37 MH085953NIMH NIH HHS T32 MH019112NIMH NIH HHS U01 MH087626NIMH NIH HHS U01 MH087636NIMH NIH HHS U01 MH101719NIMH NIH HHS U01 MH101720NIMH NIH HHS U01 MH101722NIMH NIH HHS U01 MH101723NIMH NIH HHS U01 MH101724NINDS NIH HHS U54 NS091859Wellcome TrustWellcome Trust 102428/Z/13/Z
6 · The paper itself

Abstract

Schizophrenia occurs in about one in four individuals with 22q11.2 deletion syndrome (22q11.2DS). The aim of this International Brain and Behavior 22q11.2DS Consortium (IBBC) study was to identify genetic factors that contribute to schizophrenia, in addition to the ~20-fold increased risk conveyed by the 22q11.2 deletion. Using whole-genome sequencing data from 519 unrelated individuals with 22q11.2DS, we conducted genome-wide comparisons of common and rare variants between those with schizophrenia and those with no psychotic disorder at age ≥25 years. Available microarray data enabled direct comparison of polygenic risk for schizophrenia between 22q11.2DS and independent population samples with no 22q11.2 deletion, with and without schizophrenia (total n = 35,182). Polygenic risk for schizophrenia within 22q11.2DS was significantly greater for those with schizophrenia (p

Indexed as

DiGeorge SyndromePsychotic DisordersSchizophreniaAdultCase-Control StudiesCohort StudiesHumans

Identifiers

PMID32015465
PMCPMC7396297
OpenAlexW3003719033

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