ArticleNature medicine2020
Using common genetic variation to examine phenotypic expression and risk prediction in 22q11.2 deletion syndrome.
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Article in Nature medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 82 papers.
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82citing papers in PubMed
8.1field-weighted citation impact, top 2% of its field
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Who cites it
82 citing papers in PubMed, 145 citations in OpenAlex.
- Genome-wide tandem repeat expansions modify schizophrenia risk in the presence of a 22q11.2 deletion.Molecular psychiatry · 2026Article
- Potential for Genomics to Help Guide Preventive Strategies in Psychiatry.JAMA psychiatry · 2026Article
- Recurrent Copy Number Variants and Psychiatric Outcomes in the Context of Polygenic Scores.JAMA psychiatry · 2026Article
- Polygenic scores as modifiers in Mendelian diseases.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2026Article
- Combinatorial effects of gene dosage, polygenic background and environment on complex traits.medRxiv : the preprint server for health sciences · 2026Article
- Article
- Genomics of schizophrenia, bipolar disorder and major depressive disorder.Nature reviews. Genetics · 2025Review
- Influence of Polygenic Risk on Height and BMI in Adults With a 22q11.2 Microdeletion.Journal of the Endocrine Society · 2025Article
- Evaluation of familial phenotype deviation to measure the impact of de novo mutations in autism.Genome medicine · 2025Article
- Advancing precision diagnosis in autism: Insights from large-scale genomic studies.Molecules and cells · 2025Review
- Diversity and consequences of structural variation in the human genome.Nature reviews. Genetics · 2025Review
- Investigating the sources of variable impact of pathogenic variants in monogenic metabolic conditions.Nature communications · 2025Article
- Review: Child Psychiatry in the Era of Genomics: The Promise of Translational Genetics Research for the Clinic.JAACAP open · 2025Review
- Genome-wide association testing beyond SNPs.Nature reviews. Genetics · 2025Review
- A comprehensive overview of neuropsychiatric symptoms in adolescents with 22q11.2 deletion syndrome.Journal of intellectual disability research : JIDR · 2025Article
- Neurocognitive profiles of 22q11.2 and 16p11.2 deletions and duplications.Molecular psychiatry · 2025Article
- Cognitive decline in an adult with ATR-16 syndrome due to an unbalanced translocation between 11p15.5 and 16p13.3: a case report.Frontiers in genetics · 2025Article
- Person-level contributions of bipolar polygenic risk score to the prediction of new-onset bipolar disorder in at-risk offspring.Journal of affective disorders · 2025Article
- Integrative genetic analysis: cornerstone of precision psychiatry.Molecular psychiatry · 2025Review
- Screening embryos for polygenic disease risk: a review of epidemiological, clinical, and ethical considerations.Human reproduction update · 2024Review
22 more citing papers are in PubMed but not listed here.
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Authors and funding
38 authors at 20 institutions in 13 countries.
Robert W Davies *Program in Genetics and Genome Biology and The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.ORCID http://orcid.org/0000-0002-2252-0862
Ania M Fiksinski *Department of Psychiatry, Brain Center, University Medical Center Utrecht, Utrecht, The Netherlands.ORCID http://orcid.org/0000-0002-8169-7721
Elemi J BreetveltDepartment of Psychiatry, The Hospital for Sick Children, Toronto, Ontario, Canada.
Nigel M WilliamsMRC Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, School of Medicine, Cardiff University, Cardiff, UK.
Stephen R HooperDepartment of Allied Health Sciences, School of Medicine, University of North Carolina-Chapel Hill, Chapel Hill, NC, USA.
Thomas MonfeugaMRC Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, School of Medicine, Cardiff University, Cardiff, UK.
Anne S BassettClinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, Ontario, Canada.ORCID http://orcid.org/0000-0002-0681-7279
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
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.
Donna M McDonald-McGinnDivision of Human Genetics, 22q and You Center, Clinical Genetics Center, and Section of Genetic Counseling, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.ORCID http://orcid.org/0000-0003-4077-250X
Ann SwillenCenter for Human Genetics, University Hospital Gasthuisberg, Leuven, Belgium.ORCID http://orcid.org/0000-0003-4258-4537
Eva W C ChowClinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, Ontario, 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, 22q and You Center, Clinical Genetics Center, and Section of Genetic Counseling, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Joris R VermeeschCenter for Human Genetics, University Hospital Gasthuisberg, Leuven, Belgium.
Therese van AmelsvoortDepartment of Psychiatry and Neuropsychology, Maastricht University, Maastricht, the Netherlands.
Celso ArangoDepartment of Child and Adolescent Psychiatry, Institute of Psychiatry and Mental Health, Hospital General Universitario Gregorio Marañón, IiSGM, CIBERSAM, School of Medicine, Universidad Complutense, Madrid, Spain.
Marco ArmandoDevelopmental Imaging and Psychopathology, Department of Psychiatry, University of Geneva, Geneva, Switzerland.
Linda E CampbellSchool of Psychology, University of Newcastle, Newcastle, Australia.ORCID http://orcid.org/0000-0002-8872-9626
Joseph F CubellsDepartment of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA.
Stephan EliezDevelopmental Imaging and Psychopathology, Department of Psychiatry, University of Geneva, Geneva, Switzerland.
Sixto Garcia-MinaurInstitute of Medical and Molecular Genetics (INGEMM), La Paz University Hospital, Madrid, Spain.
Doron GothelfThe Child Psychiatry Division, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel.
Wendy R KatesDepartment of Psychiatry and Behavioral Sciences, SUNY Upstate Medical University, Syracuse, NY, USA.
Kieran C MurphyDepartment of Psychiatry, Royal College of Surgeons in Ireland, Beaumont Hospital, Dublin, Ireland.
Clodagh M MurphyDepartment of Forensic and Neurodevelopmental Sciences, Institute of Psychiatry, Psychology & Neuroscience (IoPPN), King's College London, London, UK.
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
Nicole PhilipDépartement de Génétique Médicale, APHM, CHU Timone Enfants, Marseille, France.
Gabriela M RepettoCentro de Genética y Genómica, Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago, Chile.
Vandana ShashiDivision of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC, USA.
Tony J SimonMIND Institute and Department of Psychiatry and Behavioral Sciences, University of California Davis, Sacramento, CA, USA.
Damiàn Heine SuñerGenomics of Health Group and Molecular Diagnostics and Clinical Genetics Unit (UDMGC), Health Research Institute of the Balearic Islands (IdISBa), Hospital Universitari Son Espases, Palma de Mallorca, Spain.
Stefano VicariDepartment of Life Sciences and Public Health, Catholic University; Child and Adolescent Psychiatry Unit, Bambino Gesù Children's Hospital, IRCSS, Rome, Italy.
Stephen W SchererProgram in Genetics and Genome Biology, SickKids Research Institute, Toronto, Ontario, Canada.ORCID http://orcid.org/0000-0002-8326-1999
International 22q11.2 Brain and Behavior Consortium
Carrie E BeardenDepartments of Psychiatry and Biobehavioral Sciences and Psychology, Semel Institute for Neuroscience and Human Behavior, University of California Los Angeles, Los Angeles, CA, USA.ORCID http://orcid.org/0000-0002-8516-923X
Jacob A S VorstmanDepartment of Psychiatry, Brain Center, University Medical Center Utrecht, Utrecht, The Netherlands. jacob.vorstman@sickkids.ca.ORCID http://orcid.org/0000-0002-1677-3126
Cardiff University · GBCentre for Addiction and Mental Health · CAChildren's Hospital of Philadelphia · USHospital for Sick Children · CAKing's College London · GBUniversity of Geneva · CHAlbert Einstein College of Medicine · USBambino Gesù Children's Hospital · ITDuke University · USEmory University · USHealth Research Institute of the Balearic Islands · ESHospital General Universitario Gregorio Marañón · ESHospital Universitario La Paz · ESInserm · FRKU Leuven · BEMaastricht University · NLRoyal College of Surgeons in Ireland · IESickKids Foundation · CASUNY Upstate Medical University · USTel Aviv University · IL
Funding
Biomarkers for Psychosis in Velocardiofacial SyndromeR01MH064824 · NIMH · UPSTATE MEDICAL UNIVERSITY · PI KATES, WENDY · 2002 to 2015
$7.3M2/5 International Consortium on Brain and Behavior in 22q11.2 Deletion SyndromeU01MH101720 · NIMH · EMORY UNIVERSITY · PI WARREN, STEPHEN T. · 2013 to 2016
$6.2MNeurodevelopment and Psychosis in the 22q11.2 Deletion SyndromeR01MH085953 · NIMH · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI BEARDEN, CARRIE E · 2010 to 2020
$6.2M1/9: Dissecting the effects of genomic variants on nenriched for neuropsychiatric disorderseurobehavioral dimensions in CNVs U01MH119738 · NIMH · UNIVERSITY OF PENNSYLVANIA · PI GUR, RAQUEL E · 2019 to 2023
$3.2M5/9: Dissecting the effects of genomic variants on neurobehavioral dimensions in CNVs enriched for neuropsychiatric disordersU01MH119741 · NIMH · HOSPITAL FOR SICK CHLDRN (TORONTO) · PI VORSTMAN, JACOB A.S. · 2019 to 2024
$3.1MNeurodevelopment and Psychosis in the 22q11.2 Copy Number VariantsR37MH085953 · NIMH · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI CARRIE E BEARDEN · 2023 to 2026
$2.9M1/5 International Consortium on Brain and Behavior in 22q11.2 Deletion SyndromeU01MH101719 · NIMH · UNIVERSITY OF PENNSYLVANIA · PI GUR, RAQUEL E · 2013 to 2016
$2.8M7/9 Rare Genetic Disorders as a Window into the Genetic Architecture of Mental DisordersU01MH119758 · NIMH · CARDIFF UNIVERSITY · PI OWEN, MICHAEL JOHN, VAN DEN BREE, MARIANNE · 2019 to 2023
$1.4M"4/5 International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome"U01MH101722 · NIMH · KATHOLIEKE UNIVERSITEIT LEUVEN · PI SWILLEN, ANN · 2013 to 2016
$1.3M3/9 Dissecting the effects of genomic variants on neurobehavioral dimensions in CNVs enriched for neuropsychiatric disordersU01MH119736 · NIMH · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI BEARDEN, CARRIE E · 2019 to 2024
$1.2MNeurodevelopmental variation of intrinsic functional connectivity and its relationship to psychosis risk and gene expression - SupplementK01MH112774 · NIMH · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI JALBRZIKOWSKI, MARIA · 2017 to 2022
$884k3/5 International Consortium on Brain and Behavior in 22q11.2 Deletion SyndromeU01MH101723 · NIMH · CENTRE FOR ADDICTION AND MENTAL HEALTH · PI BASSETT, ANNE S., CHOW, EVA W. C. · 2013 to 2016
$821kDepartment of HealthMedical Research Council MR/L010305/1Medical Research Council MR/L011166/1Medical Research Council MR/N026063/1MRF_ MRF-154-0001-RG-SKUSENIMH NIH HHS K01 MH112774NIMH NIH HHS R01 MH064824NIMH NIH HHS R01 MH085953NIMH NIH HHS R21 MH116473NIMH NIH HHS R37 MH085953NIMH NIH HHS U01 MH101719NIMH NIH HHS U01 MH101720NIMH NIH HHS U01 MH101722NIMH NIH HHS U01 MH101723NIMH NIH HHS U01 MH101724NIMH NIH HHS U01 MH119736NIMH NIH HHS U01 MH119738NIMH NIH HHS U01 MH119740NIMH NIH HHS U01 MH119741NIMH NIH HHS U01 MH119758Wellcome TrustWellcome Trust 102428/Z/13/Z
Abstract
The 22q11.2 deletion syndrome (22q11DS) is associated with a 20-25% risk of schizophrenia. In a cohort of 962 individuals with 22q11DS, we examined the shared genetic basis between schizophrenia and schizophrenia-related early trajectory phenotypes: sub-threshold symptoms of psychosis, low baseline intellectual functioning and cognitive decline. We studied the association of these phenotypes with two polygenic scores, derived for schizophrenia and intelligence, and evaluated their use for individual risk prediction in 22q11DS. Polygenic scores were not only associated with schizophrenia and baseline intelligence quotient (IQ), respectively, but schizophrenia polygenic score was also significantly associated with cognitive (verbal IQ) decline and nominally associated with sub-threshold psychosis. Furthermore, in comparing the tail-end deciles of the schizophrenia and IQ polygenic score distributions, 33% versus 9% of individuals with 22q11DS had schizophrenia, and 63% versus 24% of individuals had intellectual disability. Collectively, these data show a shared genetic basis for schizophrenia and schizophrenia-related phenotypes and also highlight the future potential of polygenic scores for risk stratification among individuals with highly, but incompletely, penetrant genetic variants.
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AdolescentAdultAgedChildChild, PreschoolCognitive DysfunctionCohort StudiesDiGeorge SyndromeFemaleGenetic VariationHumansIntellectual DisabilityMaleMiddle AgedMultifactorial InheritancePhenotype
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