ArticleNPJ genomic medicine2019
A large data resource of genomic copy number variation across neurodevelopmental disorders.
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In one paragraph
Article in NPJ genomic medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 112 papers, 5 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
112citing papers in PubMed, 5 pooled it
19.2field-weighted citation impact, top 1% of its field
What it found
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Who cites it
112 citing papers in PubMed, 5 syntheses or guidelines pooled it, 198 citations in OpenAlex.
- Systematic Review: Convergence and Divergence Between Autism Spectrum Disorder and Obsessive-Compulsive Disorder: Genetic, Neuroimaging, and Cognitive Findings.Journal of the American Academy of Child and Adolescent Psychiatry · 2026Pooled it
- Genetic testing for diagnosing neurodevelopmental disorders and epilepsy: a systematic review and meta-analysis.Systematic reviews · 2025Pooled it
- Neural excitation/inhibition imbalance and neurodevelopmental pathology in human copy number variant syndromes: a systematic review.Journal of neurodevelopmental disorders · 2025Pooled it
- The genetics of trichotillomania and excoriation disorder: A systematic review.Comprehensive psychiatry · 2024Pooled it
- Identification of novel driver risk genes in CNV loci associated with neurodevelopmental disorders.HGG advances · 2024Pooled it
- Persistent tic disorders are associated with 17q12 duplications.Molecular psychiatry · 2026Article
- Characterizing features of the genetic architecture underlying autism from a multi-ancestry perspective.Molecular psychiatry · 2026Article
- Copy number variant analysis by exome sequencing is an effective approach to optimize diagnostic yield for developmental disorders-the DDD-Africa study.European journal of human genetics : EJHG · 2026Article
- Recurrent DNA break clusters drive replication-stress-induced copy number variants and genome diversification.Nature communications · 2026Article
- Black EquaLity in OCD NeuroGenomics (BELONG): Study Protocol.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2026Article
- Recurrent and Non-Recurrent Copy Number Variants in Native Americans and a Cosmopolitan Sample in Relation to Alcohol Use Disorder and Other Psychiatric Diseases.Molecular neurobiology · 2026Article
- <p>Harnessing MSC‑derived exosomes to modulate the pathophysiology of ASD: Recent advances and therapeutic implications (Review)</p>.International journal of molecular medicine · 2026Review
- MKRN1 as a prioritized drug target for postpartum depression: evidence from druggable proteome profiling and multi-layer validation.Translational psychiatry · 2026Article
- Copy Number Variant analysis by exome sequencing is an effective approach to optimize diagnostic yield for developmental disorders - the DDD-Africa study.medRxiv : the preprint server for health sciences · 2026Article
- New insights into neurodevelopmental disorders by whole genome sequencing of 100 families from Italy.NPJ genomic medicine · 2026Article
- Review
- Article
- Rare coding variation in OCD implicates shared genes with other psychiatric disorders.medRxiv : the preprint server for health sciences · 2025Article
- Recurrent & non-recurrent copy number variants in Native Americans and a cosmopolitan sample in relation to Alcohol Use Disorder and other psychiatric diseases.Research square · 2025Article
- Schizophrenia.Nature reviews. Disease primers · 2025Review
52 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
60 authors at 17 institutions in 3 countries.
Mehdi Zarrei1The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON Canada.
Christie L Burton3Neurosciences and Mental Health Program, The Hospital for Sick Children, Toronto, ON Canada.
Worrawat Engchuan1The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON Canada.
Edwin J Young4Genome Diagnostics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, ON Canada.ORCID 0000-0003-4882-6752
Edward J Higginbotham1The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON Canada.ORCID 0000-0003-1881-9308
Jeffrey R MacDonald1The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON Canada.ORCID 0000-0001-5058-2393
Brett Trost1The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON Canada.ORCID 0000-0003-4863-7273
Ada J S Chan1The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON Canada.
Susan Walker1The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON Canada.
Sylvia Lamoureux1The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON Canada.
Tracy Heung6Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, ON Canada.
Bahareh A Mojarad2Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON Canada.
Barbara Kellam1The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON Canada.
Tara Paton1The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON Canada.
Muhammad Faheem1The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON Canada.
Karin Miron1The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON Canada.
Chao Lu1The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON Canada.
Ting Wang1The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON Canada.
Kozue Samler1The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON Canada.
Xiaolin Wang1The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON Canada.
Gregory Costain7Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON Canada.
Ny Hoang2Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON Canada.
Giovanna Pellecchia1The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON Canada.ORCID 0000-0003-4747-3473
John Wei1The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON Canada.
Rohan V Patel1The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON Canada.ORCID 0000-0001-8674-9706
Bhooma Thiruvahindrapuram1The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON Canada.
Maian Roifman7Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON Canada.
Daniele Merico1The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON Canada.
Tara Goodale3Neurosciences and Mental Health Program, The Hospital for Sick Children, Toronto, ON Canada.
Irene DrmicHamilton Health Sciences, Ron Joyce Children's Health Centre, Hamilton, On Canada.
Marsha Speevak14Trillium Health Partners Credit Valley Site, Mississauga, Ontario Canada.
Jennifer L Howe1The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON Canada.
Ryan K C Yuen1The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON Canada.ORCID 0000-0001-7273-4968
Janet A Buchanan1The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON Canada.
Jacob A S Vorstman15Department of Psychiatry, University of Toronto, Toronto, ON Canada.
Christian R Marshall1The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON Canada.ORCID 0000-0002-4003-7671
Richard F Wintle1The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON Canada.ORCID 0000-0003-1987-1095
David R Rosenberg18Department of Psychiatry and Behavioral Neurosciences, Wayne State University, Detroit, MI USA.
Gregory L Hanna20Department of Psychiatry, University of Michigan, Ann Arbor, MI USA.
Marc Woodbury-Smith1The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON Canada.
Cheryl Cytrynbaum2Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON Canada.ORCID 0000-0002-3742-1250
Lonnie Zwaigenbaum23Department of Pediatrics, University of Alberta, Edmonton, AB Canada.
Mayada Elsabbagh24Montreal Neurological Institute, McGill University, Montreal, QC Canada.
Janine Flanagan11Department of Paediatrics, University of Toronto, Toronto, ON Canada.
Bridget A Fernandez25Discipline of Genetics, Faculty of Medicine, Memorial University of Newfoundland, St. John's, NL Canada.
Melissa T Carter26Regional Genetics Program, The Children's Hospital of Eastern Ontario, Ottawa, ON Canada.
Peter Szatmari15Department of Psychiatry, University of Toronto, Toronto, ON Canada.
Wendy Roberts16Autism Research Unit, The Hospital for Sick Children, Toronto, ON Canada.
Jason Lerch29Mouse Imaging Centre, Hospital for Sick Children, Toronto, ON Canada.
Xudong Liu31Department of Psychiatry, Queen's University, Kinston, ON Canada.
Rob Nicolson32Children's Health Research Institute, London, ON Canada.ORCID 0000-0001-7086-7038
Stelios Georgiades34Department of Psychiatry and Behavioural Neurosciences, McMaster University, Hamilton, ON Canada.
Rosanna Weksberg2Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON Canada.
Paul D Arnold2Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON Canada.
Anne S Bassett6Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, ON Canada.
Jennifer Crosbie3Neurosciences and Mental Health Program, The Hospital for Sick Children, Toronto, ON Canada.
Russell Schachar3Neurosciences and Mental Health Program, The Hospital for Sick Children, Toronto, ON Canada.
Dimitri J Stavropoulos4Genome Diagnostics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, ON Canada.
Evdokia Anagnostou39Holland Bloorview Kids Rehabilitation Hospital, University of Toronto, Toronto, ON Canada.
Stephen W Scherer1The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON Canada.ORCID 0000-0002-8326-1999
Hospital for Sick Children · CAUniversity of Toronto · CACentre for Addiction and Mental Health · CAChildren's Hospital of Eastern Ontario · CAHamilton Health Sciences · CAHolland Bloorview Kids Rehabilitation Hospital · CAMcMaster University · CAMemorial University of Newfoundland · CAMontreal Neurological Institute and Hospital · CAMount Sinai Hospital · CAQueen's University · CATrillium Health Centre · CAUniversity of Alberta · CAUniversity of Calgary · CAUniversity of Michigan · USWayne State University · USWestern University · CA
Funding
Subject CollectionU10AA008401 · NIAAA · SUNY DOWNSTATE MEDICAL CENTER · PI JAY Arnold TISCHFIELD · 1989 to 2026
$162.7MJH/CIDR Genotyping for Genome-Wide Association StudiesU01HG004438 · NHGRI · JOHNS HOPKINS UNIVERSITY · PI VALLE, DAVID · 2007 to 2011
$24.2MThe Collaborative Genetic Study of Nicotine DependenceP01CA089392 · NCI · WASHINGTON UNIVERSITY · PI BIERUT, LAURA J. · 2001 to 2012
$17.3MRELAPSE: LINKING SCIENCE AND PRACTICEP50CA084724 · NCI · UNIVERSITY OF WISCONSIN MADISON · PI FIORE, MICHAEL C · 1999 to 2003
$8.9MTobacco Dependence: Treatment and OutcomesP50DA019706 · NIDA · UNIVERSITY OF WISCONSIN-MADISON · PI FIORE, MICHAEL C · 2004 to 2008
$8.6MGenome Wide Association Coordinating CenterU01HG004446 · NHGRI · UNIVERSITY OF WASHINGTON · PI WEIR, BRUCE S. · 2007 to 2011
$6.6M2/3 Brain Function and Genetics in Pediatric Obsessive-Compulsive BehaviorsR01MH085321 · NIMH · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI HANNA, GREGORY L. · 2009 to 2019
$2.9MAction Monitoring and Genomic Variants in Pediatric Obsessive-Compulsive BehaviorR01MH101493 · NIMH · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI ARNOLD, PAUL DANIEL, GEHRING, WILLIAM J · 2013 to 2016
$2.3MFAMILY STUDY OF COCAINE DEPENDENCER01DA013423 · NIDA · WASHINGTON UNIVERSITY · PI BIERUT, LAURA JEAN · 2000 to 2004
$2.2MStudy of Addiction: Genetics and EnvironmentU01HG004422 · NHGRI · WASHINGTON UNIVERSITY · PI BIERUT, LAURA J. · 2007 to 2010
$1.2MNCI NIH HHS P01 CA089392NCI NIH HHS P50 CA084724NHGRI NIH HHS HHSN268200782096CNHGRI NIH HHS U01 HG004422NHGRI NIH HHS U01 HG004438NHGRI NIH HHS U01 HG004446NIAAA NIH HHS U10 AA008401NIDA NIH HHS P50 DA019706NIDA NIH HHS R01 DA013423NIMH NIH HHS R01 MH085321NIMH NIH HHS R01 MH101493
Abstract
Copy number variations (CNVs) are implicated across many neurodevelopmental disorders (NDDs) and contribute to their shared genetic etiology. Multiple studies have attempted to identify shared etiology among NDDs, but this is the first genome-wide CNV analysis across autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), schizophrenia (SCZ), and obsessive-compulsive disorder (OCD) at once. Using microarray (Affymetrix CytoScan HD), we genotyped 2,691 subjects diagnosed with an NDD (204 SCZ, 1,838 ASD, 427 ADHD and 222 OCD) and 1,769 family members, mainly parents. We identified rare CNVs, defined as those found in <0.1% of 10,851 population control samples. We found clinically relevant CNVs (broadly defined) in 284 (10.5%) of total subjects, including 22 (10.8%) among subjects with SCZ, 209 (11.4%) with ASD, 40 (9.4%) with ADHD, and 13 (5.6%) with OCD. Among all NDD subjects, we identified 17 (0.63%) with aneuploidies and 115 (4.3%) with known genomic disorder variants. We searched further for genes impacted by different CNVs in multiple disorders. Examples of NDD-associated genes linked across more than one disorder (listed in order of occurrence frequency) are
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Molecular medicineNeurodevelopmental disordersPathogenesis
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