ArticleJournal of the American Academy of Child and Adolescent Psychiatry2014
Copy number variation in obsessive-compulsive disorder and tourette syndrome: a cross-disorder study.
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Article in Journal of the American Academy of Child and Adolescent Psychiatry, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 82 papers, 1 of them a synthesis that pooled it.
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82citing papers in PubMed, 1 pooled it
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Who cites it
82 citing papers in PubMed, 1 synthesis or guideline pooled it, 139 citations in OpenAlex.
- The genetics of trichotillomania and excoriation disorder: A systematic review.Comprehensive psychiatry · 2024Pooled it
- Advancements in the Understanding of the Genetics of Obsessive-Compulsive Disorder (OCD).Current psychiatry reports · 2026Review
- A genomic study of trichotillomania and excoriation disorder in families.Translational psychiatry · 2026Article
- Rare protein-disrupting variants inmedRxiv : the preprint server for health sciences · 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
- Review
- Role of CNTN6 in neurodevelopment and neuropathology.Frontiers in neuroscience · 2026Review
- Neuropsychiatric symptoms in siblings of children with Tourette syndrome in the EMTICS study.JCPP advances · 2025Article
- Article
- Biological, Psychosocial, and Microbial Determinants of Childhood-Onset Obsessive-Compulsive Disorder: A Narrative Review.Children (Basel, Switzerland) · 2025Review
- A burden of rare copy number variants in obsessive-compulsive disorder.Molecular psychiatry · 2025Article
- Phenomenology of repetitive and restrictive behaviors and sensory phenomena in neurodevelopmental disorders: an exploratory study.BMC psychiatry · 2025Article
- Ketogenic Diet as a Nutritional Metabolic Intervention for Obsessive-Compulsive Disorder: A Narrative Review.Nutrients · 2024Review
- Genomics of severe and treatment-resistant obsessive-compulsive disorder treated with deep brain stimulation: A preliminary investigation.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2024Article
- The pleiotropic spectrum of proximal 16p11.2 CNVs.American journal of human genetics · 2024Review
- The High Rates of Comorbidity among Neurodevelopmental Disorders: Reconsidering the Clinical Utility of Distinct Diagnostic Categories.Journal of personalized medicine · 2024Review
- A Burden of Rare Copy Number Variants in Obsessive-Compulsive Disorder.Research square · 2024Article
- Examining neurodevelopmental problems in 15q11.2 (BP1-BP2) copy number variation carriers at ages 9/12 and 18 in a Swedish twin sample.Molecular genetics & genomic medicine · 2023Article
- The contribution of copy number variants to psychiatric symptoms and cognitive ability.Molecular psychiatry · 2023Review
- Chromosome Microarray Analysis for the Investigation of Deletions in Pediatric Movement Disorders: A Systematic Review of the Literature.Movement disorders clinical practice · 2023Review
22 more citing papers are in PubMed but not listed here.
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Authors and funding
121 authors at 20 institutions in 14 countries.
Lauren M McGrathMassachusetts General Hospital, Boston; American University, Washington, DC; Harvard-MIT Broad Institute, Boston.
Dongmei YuMassachusetts General Hospital, Boston; Harvard-MIT Broad Institute, Boston.
Christian MarshallUniversity of Toronto and the Hospital for Sick Children, Toronto.
Lea K DavisUniversity of Chicago.
Bhooma ThiruvahindrapuramUniversity of Toronto and the Hospital for Sick Children, Toronto.
Bingbin LiUniversity of Toronto and the Hospital for Sick Children, Toronto.
Carolina CappiUniversity of São Paulo Medical School.
Gloria GerberMassachusetts General Hospital, Boston.
Aaron WolfMassachusetts General Hospital, Boston.
Frederick A SchroederMassachusetts General Hospital, Boston.
Lisa OsieckiMassachusetts General Hospital, Boston.
Colm O'DushlaineHarvard-MIT Broad Institute, Boston.
Andrew KirbyMassachusetts General Hospital, Boston.
Cornelia IllmannMassachusetts General Hospital, Boston.
Stephen HaddadMassachusetts General Hospital, Boston.
Patience GallagherMassachusetts General Hospital, Boston.
Jesen A FagernessMassachusetts General Hospital, Boston.
Cathy L BarrUniversity of Toronto and the Hospital for Sick Children, Toronto; Toronto Western Research Institute, University Health Network, Toronto.
Laura BellodiUniversità Vita-Salute San Raffaele, Milan.
Fortu BenarrochHadassah-Hebrew University Medical Center, Jerusalem.
O Joseph BienvenuJohns Hopkins University School of Medicine, Baltimore.
Donald W BlackUniversity of Iowa College of Medicine, Iowa City.
Michael H BlochYale University School of Medicine, New Haven, CT.
Ruth D BruunNorth Shore-Long Island Jewish Medical Center, New Hyde Park, NY; New York University Medical Center, New York.
Cathy L BudmanNorth Shore-Long Island Jewish Medical Center, New Hyde Park, NY; Hofstra University School of Medicine, Hempstead, NY.
Beatriz CamarenaInstituto Nacional de Psiquiatría Ramon de la Fuente Muñiz, Mexico.
Danielle C CathUtrecht University and VU Medical Center, Amsterdam.
Maria C CavalliniOspedale San Raffaele, Milan.
Sylvain ChouinardUniversity of Montreal.
Vladimir CoricYale University School of Medicine, New Haven, CT.
Bernadette CullenJohns Hopkins University School of Medicine, Baltimore.
Richard DelormeRobert Debre University Hospital, Paris and the French National Science Foundation, Creteil, France; Institut Pasteur, Paris.
Damiaan DenysNetherlands Institute for Neuroscience, Amsterdam; Academic Medical Center, Amsterdam.
Eske M DerksAcademic Medical Center, Amsterdam.
Yves DionUniversity of Montreal.
Maria C RosárioFederal University of São Paulo.
Valsama EapenUniversity of New South Wales, Australia.
Patrick EvansUniversity of Chicago.
Peter FalkaiUniversity of Munich.
Thomas V FernandezYale University School of Medicine, New Haven, CT.
Helena GarridoHospital Nacional de Niños, San Jose, Costa Rica; Clinica Herrera Amighetti, Avenida Escazú, San José, Costa Rica.
Daniel GellerMassachusetts General Hospital, Boston.
Hans J GrabeUniversity Medicine Greifswald, Greifswald, Germany.
Marco A GradosJohns Hopkins University School of Medicine, Baltimore.
Benjamin D GreenbergBrown Medical School, Providence, RI.
Varda Gross-TsurShaare Zedek Medical Center, Jerusalem.
Edna GrünblattUniversity of Zurich.
Gary A HeimanRutgers University, Piscataway Township, NJ.
Sian M J HemmingsUniversity of Stellenbosch, South Africa.
Luis D HerreraHospital Nacional de Niños, San Jose, Costa Rica.
Ana G HounieFederal University of São Paulo.
Joseph JankovicBaylor College of Medicine, Houston.
James L KennedyCentre for Addiction and Mental Health, Toronto.
Robert A KingYale University School of Medicine, New Haven, CT.
Roger KurlanAtlantic Neuroscience Institute, Summit, NJ.
Nuria LanzagortaCarracci Medical Group, Mexico City.
Marion LeboyerRobert Debre University Hospital, Paris and the French National Science Foundation, Creteil, France; Institut Mondor de Recherche Biomédicale, Créteil, France.
James F LeckmanYale University School of Medicine, New Haven, CT.
Leonhard LennertzUniversity of Bonn, Germany.
Christine LochnerUniversity of Stellenbosch, South Africa.
Thomas L LoweUniversity of California at San Francisco School of Medicine.
Gholson J LyonCold Spring Harbor Laboratory, Cold Spring Harbor, NY.
Fabio MacciardiUniversity of California, Irvine.
Wolfgang MaierUniversity of Bonn, Germany.
James T McCrackenUniversity of California, Los Angeles (UCLA) School of Medicine.
William McMahonUniversity of Utah, Salt Lake City.
Dennis L MurphyNational Institute of Mental Health (NIMH) Intramural Research Program, Bethesda, MD.
Allan L NaardenMedical City Dallas Hospital.
Benjamin M NealeMassachusetts General Hospital, Boston; Harvard-MIT Broad Institute, Boston.
Erika NurmiUniversity of California, Los Angeles (UCLA) School of Medicine.
Andrew J PakstisYale University School of Medicine, New Haven, CT.
Michele T PatoZilkha Neurogenetic Institute, Los Angeles.
Carlos N PatoZilkha Neurogenetic Institute, Los Angeles.
John PiacentiniUniversity of California, Los Angeles (UCLA) School of Medicine.
Christopher PittengerYale University School of Medicine, New Haven, CT.
Yehuda PollakShaare Zedek Medical Center, Jerusalem.
Victor I ReusUniversity of California at San Francisco School of Medicine.
Margaret A RichterUniversity of Toronto and the Hospital for Sick Children, Toronto; Sunnybrook Health Sciences Centre, Toronto.
Mark RiddleJohns Hopkins University School of Medicine, Baltimore.
Mary M RobertsonUniversity College London.
David RosenbergWayne State University and Detroit Medical Center, Detroit.
Guy A RouleauMontreal Neurological Institute.
Stephan RuhrmannUniversity of Cologne, Germany.
Aline S SampaioFederal University of São Paulo; Universidade Federal da Bahia, Salvador, Bahia, Brazil.
Jack SamuelsJohns Hopkins University School of Medicine, Baltimore.
Paul SandorUniversity of Toronto and the Hospital for Sick Children, Toronto; Toronto Western Research Institute, University Health Network, Toronto.
Brooke SheppardUniversity of California at San Francisco School of Medicine.
Harvey S SingerJohns Hopkins University School of Medicine, Baltimore.
Jan H SmitVU Amsterdam and Erasmus University Medical Centre, Rotterdam; VU University Amsterdam; VU Medical Center, Amsterdam.
Dan J SteinUniversity of Cape Town, South Africa.
Jay A TischfieldRutgers University, Piscataway Township, NJ.
Homero ValladaUniversity of São Paulo Medical School.
Jeremy Veenstra-VanderWeeleVanderbilt University, Nashville, TN.
Susanne WalitzaUniversity of Zurich; University of Würzburg.
Ying WangJohns Hopkins University School of Medicine, Baltimore.
Jens R WendlandNational Institute of Mental Health (NIMH) Intramural Research Program, Bethesda, MD.
Yin Yao ShugartNational Institute of Mental Health (NIMH) Intramural Research Program, Bethesda, MD.
Euripedes C MiguelUniversity of São Paulo Medical School.
Humberto NicoliniCarracci Medical Group, Mexico City.
Ben A OostraErasmus Medical Center Rotterdam, the Netherlands.
Rainald MoessnerUniversity of Bonn, Germany.
Michael WagnerUniversity of Bonn, Germany.
Andres Ruiz-LinaresUniversity College London.
Peter HeutinkGerman Center for Neurodegenerative Diseases, Bonn and VU Medical Center Amsterdam.
Gerald NestadtJohns Hopkins University School of Medicine, Baltimore.
Nelson FreimerUniversity of California, Los Angeles (UCLA) School of Medicine; Semel Institute for Neuroscience and Human Behavior, UCLA.
Tracey PetryshenMassachusetts General Hospital, Boston; Harvard-MIT Broad Institute, Boston.
Danielle PosthumaVU Amsterdam and Erasmus University Medical Centre, Rotterdam.
Michael A JenikeMassachusetts General Hospital, Boston.
Nancy J CoxUniversity of Chicago.
Gregory L HannaUniversity of Michigan, Ann Arbor, MI.
Helena BrentaniUniversity of São Paulo Medical School.
Stephen W SchererUniversity of Toronto and the Hospital for Sick Children, Toronto.
Paul D ArnoldUniversity of Toronto and the Hospital for Sick Children, Toronto.
S Evelyn StewartMassachusetts General Hospital, Boston; University of British Columbia, Vancouver.
Carol A MathewsUniversity of California at San Francisco School of Medicine.
James A KnowlesZilkha Neurogenetic Institute, Los Angeles.
Edwin H CookUniversity of Illinois at Chicago.
David L PaulsMassachusetts General Hospital, Boston.
Kai WangZilkha Neurogenetic Institute, Los Angeles.
Jeremiah M ScharfMassachusetts General Hospital, Boston; Brigham and Womens Hospital, Boston; Harvard-MIT Broad Institute, Boston. Electronic address: jscharf@partners.org.
Massachusetts General Hospital · USJohns Hopkins University · USYale University · USBroad Institute · USUniversity of Toronto · CAUniversidade de São Paulo · BRUniversity of Bonn · DEUniversity of California, Los Angeles · USUniversity of California, San Francisco · USNational Institute of Mental Health · USUniversity of Chicago · USHospital Nacional de Niños · CRRutgers, The State University of New Jersey · USShaare Zedek Medical Center · ILStellenbosch University · ZAUniversidade Federal de São Paulo · BRUniversité de Montréal · CAUniversity College London · GBUniversity Health Network · CAUniversity of Zurich · CH
Funding
NIMH Center Repository Supporting Stem Cell ResearchU24MH068457 · NIMH · RUTGERS THE ST UNIV OF NJ NEW BRUNSWICK · PI BRZUSTOWICZ, LINDA M, KNOWLES, JAMES A · 2003 to 2024
$213.8MSubject CollectionU10AA008401 · NIAAA · SUNY DOWNSTATE MEDICAL CENTER · PI JESSICA E SALVATORE · 1989 to 2026
$162.7MYale University Clinical and Translational Science Award ProgramUL1TR000142 · NCATS · YALE UNIVERSITY · PI SHERWIN, ROBERT S · 2012 to 2015
$31.8MJH/CIDR Genotyping for Genome-Wide Association StudiesU01HG004438 · NHGRI · JOHNS HOPKINS UNIVERSITY · PI VALLE, DAVID · 2007 to 2011
$24.2MRe-Engineering Translational Research at the University of ChicagoUL1TR000430 · NCATS · UNIVERSITY OF CHICAGO · PI SOLWAY, JULIAN · 2012 to 2016
$20.2MThe Collaborative Genetic Study of Nicotine DependenceP01CA089392 · NCI · WASHINGTON UNIVERSITY · PI BIERUT, LAURA J. · 2001 to 2012
$17.3MTRAINING PROGRAM IN CHILDHOOD NEUROPSYCHIATRIC DISORDERST32MH018268 · NIMH · YALE UNIVERSITY · PI Michael H Bloch, MICHAEL J CROWLEY · 1985 to 2026
$11.0MA GENETIC LINKAGE STUDY OF GTSR01NS040024 · NINDS · TOURETTE SYNDROME ASSOCIATION, INC · PI PAULS, DAVID L · 2000 to 2004
$9.5MGENETICS OF TOURETTE SYNDROMER01NS016648 · NINDS · YALE UNIVERSITY · PI PAULS, DAVID L · 1985 to 2009
$9.0MStuart T. Hauser Research Training Program in Biological and Social Psychiatry.T32MH016259 · NIMH · JUDGE BAKER CHILDREN'S CENTER · PI Marek Kubicki, Martha E. Shenton · 1985 to 2026
$8.4MA Genetic Linkage Study of GTSU01NS040024 · NINDS · TOURETTE ASSOCIATION OF AMERICA, INC. · PI SCHARF, JEREMIAH M · 2007 to 2012
$8.0MIntegrative Center for Neurogenetics and Neurogenomics - OverallP30NS062691 · NINDS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI COPPOLA, GIOVANNI · 2009 to 2018
$7.4MNCATS NIH HHS KL2 TR000431NCATS NIH HHS UL1 TR000142NCATS NIH HHS UL1 TR000430NCI NIH HHS P01 CA089392NHGRI NIH HHS U01 HG004422NHGRI NIH HHS U01 HG004438NHGRI NIH HHS U01HG004438NHGRI NIH HHS U01 HG004446NIAAA NIH HHS U10 AA008401NIDA NIH HHS R01 DA013423NIMH NIH HHS K08 MH099424NIMH NIH HHS K08 MH099424-01NIMH NIH HHS K20MH01065NIMH NIH HHS K23 MH085057NIMH NIH HHS K23MH085057NIMH NIH HHS K23 MH094613NIMH NIH HHS MH073250NIMH NIH HHS R01 MH079489NIMH NIH HHS R01MH079489NIMH NIH HHS R01 MH085321NIMH NIH HHS R01 MH092293NIMH NIH HHS R01MH092293NIMH NIH HHS R01MH58376NIMH NIH HHS R13 MH073250NIMH NIH HHS R25 MH077823NIMH NIH HHS T32 MH016259NIMH NIH HHS T32 MH018268NIMH NIH HHS T32MH018268NIMH NIH HHS T32MH16259NIMH NIH HHS U24 MH068457NINDS NIH HHS NS037484NINDS NIH HHS NS1664829S1NINDS NIH HHS NS40024-07S1NINDS NIH HHS P30 NS062691NINDS NIH HHS P30NS062691NINDS NIH HHS R01 NS016648NINDS NIH HHS R01 NS037484NINDS NIH HHS R01 NS040024NINDS NIH HHS R01NS16648NINDS NIH HHS U01 NS040024NINDS NIH HHS U01NS40024
Abstract
objectiveObsessive-compulsive disorder (OCD) and Tourette syndrome (TS) are heritable neurodevelopmental disorders with a partially shared genetic etiology. This study represents the first genome-wide investigation of large (>500 kb), rare (<1%) copy number variants (CNVs) in OCD and the largest genome-wide CNV analysis in TS to date.
methodThe primary analyses used a cross-disorder design for 2,699 case patients (1,613 ascertained for OCD, 1,086 ascertained for TS) and 1,789 controls. Parental data facilitated a de novo analysis in 348 OCD trios.
resultsAlthough no global CNV burden was detected in the cross-disorder analysis or in secondary, disease-specific analyses, there was a 3.3-fold increased burden of large deletions previously associated with other neurodevelopmental disorders (p = .09). Half of these neurodevelopmental deletions were located in a single locus, 16p13.11 (5 case patient deletions: 0 control deletions, p = .08 in the current study, p = .025 compared to published controls). Three 16p13.11 deletions were confirmed de novo, providing further support for the etiological significance of this region. The overall OCD de novo rate was 1.4%, which is intermediate between published rates in controls (0.7%) and in individuals with autism or schizophrenia (2-4%).
conclusionSeveral converging lines of evidence implicate 16p13.11 deletions in OCD, with weaker evidence for a role in TS. The trend toward increased overall neurodevelopmental CNV burden in TS and OCD suggests that deletions previously associated with other neurodevelopmental disorders may also contribute to these phenotypes.
Indexed as
DNA Copy Number VariationsAdolescentDiagnostic and Statistical Manual of Mental DisordersFemaleGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansMaleObsessive-Compulsive DisorderPolymorphism, Single NucleotideTourette Syndrome16p13.11copy number variationgeneticsobsessive-compulsive disorderTourette syndrome
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