ArticleNeuron2017
Rare Copy Number Variants in NRXN1 and CNTN6 Increase Risk for Tourette Syndrome.
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Article in Neuron, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 108 papers, 6 of them syntheses that pooled it.
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108citing papers in PubMed, 6 pooled it
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Who cites it
108 citing papers in PubMed, 6 syntheses or guidelines pooled it.
- Genome-Wide Association Study Meta-Analysis of 9619 Cases With Tic Disorders.Biological psychiatry · 2025Pooled it
- The genetics of trichotillomania and excoriation disorder: A systematic review.Comprehensive psychiatry · 2024Pooled it
- Genome-Wide Association Study Points to Novel Locus for Gilles de la Tourette Syndrome.Biological psychiatry · 2024Pooled it
- Environmental Risk Factors, Protective Factors, and Biomarkers for Allergic Rhinitis: A Systematic Umbrella Review of the Evidence.Clinical reviews in allergy & immunology · 2023Pooled it
- Role of Ash1l in Tourette syndrome and other neurodevelopmental disorders.Developmental neurobiology · 2021Pooled it
- Interrogating the Genetic Determinants of Tourette's Syndrome and Other Tic Disorders Through Genome-Wide Association Studies.The American journal of psychiatry · 2019Pooled it
- Tourette syndrome.Nature reviews. Disease primers · 2026Review
- Persistent tic disorders are associated with 17q12 duplications.Molecular psychiatry · 2026Article
- The contactin rig-6 transiently promotes GABA neuron remodeling with a sustained impact on male mating behavior in C. elegans.Genetics · 2026Article
- Whole-exome sequencing in individuals with obsessive-compulsive disorder and chronic tic disorders identifies 36 large-effect risk genes.Nature neuroscience · 2026Article
- In vivo dissection of human NRXN1 isoforms reveals gain-of-function pathogenicity of schizophrenia-associated 3' deletions.Human molecular genetics · 2026Article
- CNTN6 Modulates Slit-Robo Signaling in Cortical GABAergic Interneuron Migration.Neuroscience bulletin · 2026Article
- Indirect pathway neurons in the tail of the striatum regulate inhibitory control over sensory driven behavior.Science advances · 2026Article
- MarkerMatch: a proximity-based probe-matching algorithm for joint analysis of copy-number variants from different genotyping arrays.Bioinformatics (Oxford, England) · 2026Article
- Altered neurodevelopmental trajectories of brain structure in Tourette syndrome and Chronic Tic Disorders.medRxiv : the preprint server for health sciences · 2026Article
- Rare protein-disrupting variants inmedRxiv : the preprint server for health sciences · 2026Article
- Allele-specific rescue of neurexin behavioral phenotypes by monoamine-targeting compounds.bioRxiv : the preprint server for biology · 2026Article
- Roles of NRXN1 in neuropsychiatric disorders: from genetic lesion to molecular mechanism.Frontiers in neuroscience · 2026Review
- Role of CNTN6 in neurodevelopment and neuropathology.Frontiers in neuroscience · 2026Review
- Copy Number Variant Duplications Associated with Essential Tremor.Tremor and other hyperkinetic movements (New York, N.Y.) · 2026Article
48 more citing papers are in PubMed but not listed here.
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Authors and funding
59 authors.
Alden Y HuangSemel Institute for Neuroscience and Human Behavior, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA; Department of Psychiatry and Biobehavioral Sciences, University of California, Los Angeles, Los Angeles, CA 90095, USA; Bioinformatics Interdepartmental Program, University of California, Los Angeles, Los Angeles, CA 90095, USA.
Dongmei YuPsychiatric and Neurodevelopmental Genetics Unit, Center for Genomic Medicine, Department of Psychiatry, Massachusetts General Hospital, Boston, MA 02114, USA; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
Lea K DavisDivision of Genetic Medicine, Vanderbilt Genetics Institute, Vanderbilt University Medical Center, Nashville, TN 37232, USA.
Jae Hoon SulSemel Institute for Neuroscience and Human Behavior, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA; Department of Psychiatry and Biobehavioral Sciences, University of California, Los Angeles, Los Angeles, CA 90095, USA.
Fotis TsetsosDepartment of Biological Sciences, Purdue University, West Lafayette, IN 47907, USA.
Vasily RamenskySemel Institute for Neuroscience and Human Behavior, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA; Department of Psychiatry and Biobehavioral Sciences, University of California, Los Angeles, Los Angeles, CA 90095, USA; Moscow Institute of Physics and Technology, Dolgoprudny, Institusky 9, Moscow 141701, Russian Federation.
Ivette ZelayaSemel Institute for Neuroscience and Human Behavior, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA; Department of Psychiatry and Biobehavioral Sciences, University of California, Los Angeles, Los Angeles, CA 90095, USA; Bioinformatics Interdepartmental Program, University of California, Los Angeles, Los Angeles, CA 90095, USA.
Eliana Marisa RamosSemel Institute for Neuroscience and Human Behavior, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA; Department of Psychiatry and Biobehavioral Sciences, University of California, Los Angeles, Los Angeles, CA 90095, USA.
Lisa OsieckiPsychiatric and Neurodevelopmental Genetics Unit, Center for Genomic Medicine, Department of Psychiatry, Massachusetts General Hospital, Boston, MA 02114, USA.
Jason A ChenSemel Institute for Neuroscience and Human Behavior, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA; Department of Psychiatry and Biobehavioral Sciences, University of California, Los Angeles, Los Angeles, CA 90095, USA; Bioinformatics Interdepartmental Program, University of California, Los Angeles, Los Angeles, CA 90095, USA.
Lauren M McGrathDepartment of Psychology, University of Denver, Denver, CO 80210, USA.
Cornelia IllmannPsychiatric and Neurodevelopmental Genetics Unit, Center for Genomic Medicine, Department of Psychiatry, Massachusetts General Hospital, Boston, MA 02114, USA.
Paul SandorToronto Western Research Institute, University Health Network and Youthdale Treatment Centres, University of Toronto, Toronto, ON M5T 2S8, Canada.
Cathy L BarrKrembil Research Institute, University Health Network, Toronto, ON M5G 1L7, Canada.
Marco GradosJohns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
Harvey S SingerJohns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
Markus M NöthenDepartment of Genomics, Life & Brain Center, University of Bonn, 53127 Bonn, Germany; Institute of Human Genetics, University of Bonn, 53127 Bonn, Germany.
Johannes HebebrandDepartment of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, University Hospital Essen, University of Duisburg-Essen, 45147 Essen, Germany.
Robert A KingYale Child Study Center, Yale University School of Medicine, New Haven, CT 06520, USA.
Yves DionUniversity of Montréal, Montréal, QC H3T 1J4, Canada.
Guy RouleauDepartment of Neurology and Neurosurgery, Montréal Neurological Institute, McGill University, Montréal, QC H3A 2B4, Canada.
Cathy L BudmanHofstra Northwell School of Medicine, Hempstead, NY 11549, USA.
Christel DepienneIGBMC, CNRS UMR 7104/INSERM U964/Université de Strasbourg, 67404 Illkirch Cedex, France; Brain and Spine Institute, UPMC/INSERM UMR_S1127, 75013 Paris Cedex 05, France.
Yulia WorbeBrain and Spine Institute, UPMC/INSERM UMR_S1127, 75013 Paris Cedex 05, France.
Andreas HartmannBrain and Spine Institute, UPMC/INSERM UMR_S1127, 75013 Paris Cedex 05, France.
Kirsten R Müller-VahlClinic of Psychiatry, Social Psychiatry and Psychotherapy, Hannover Medical School, 30625 Hannover, Germany.
Manfred StuhrmannInstitute of Human Genetics, Hannover Medical School, 30625 Hannover, Germany.
Harald AschauerDepartment of Psychiatry and Psychotherapy, Medical University Vienna, 1090 Vienna, Austria; Biopsychosocial Corporation, 1090 Vienna, Austria.
Mara StamenkovicDepartment of Psychiatry and Psychotherapy, Medical University Vienna, 1090 Vienna, Austria.
Monika SchloegelhoferDepartment of Psychiatry and Psychotherapy, Medical University Vienna, 1090 Vienna, Austria.
Anastasios KonstantinidisDepartment of Psychiatry and Psychotherapy, Medical University Vienna, 1090 Vienna, Austria; Center for Mental Health Muldenstrasse, BBRZMed, 4020 Linz, Austria.
Gholson J LyonStanley Institute for Cognitive Genomics, Cold Spring Harbor Laboratory, Cold Spring Harbor, NY 11724, USA.
William M McMahonDepartment of Psychiatry, University of Utah, Salt Lake City, UT 84108, USA.
Csaba BartaInstitute of Medical Chemistry, Molecular Biology and Pathobiochemistry, Semmelweis University, 1085 Budapest, Hungary.
Zsanett TarnokVadaskert Child and Adolescent Psychiatric Hospital, 1021 Budapest, Hungary.
Peter NagyVadaskert Child and Adolescent Psychiatric Hospital, 1021 Budapest, Hungary.
James R BattersonChildren's Mercy Hospital, Kansas City, KS 64108, USA.
Renata RizzoDipartimento di Medicina Clinica e Sperimentale, Università di Catania, 95131 Catania, Italy.
Danielle C CathDepartment of Psychiatry, University Medical Center Groningen & Drenthe Mental Health Center, 9700 RB Groningen, the Netherlands; Department of Clinical Psychology, Utrecht University, 3584 CS Utrecht, the Netherlands.
Tomasz WolanczykDepartment of Child Psychiatry, Medical University of Warsaw, 00-001 Warsaw, Poland.
Cheston BerlinPenn State University College of Medicine, Hershey, PA 17033, USA.
Irene A MalatyDepartment of Neurology and Center for Movement Disorders and Neurorestoration, University of Florida, Gainesville, FL 32607, USA.
Michael S OkunDepartment of Neurology and Center for Movement Disorders and Neurorestoration, University of Florida, Gainesville, FL 32607, USA.
Douglas W WoodsMarquette University, Milwaukee, WI 53233, USA; University of Wisconsin-Milwaukee, Milwaukee, WI 53211, USA.
Elliott ReesMedical Research Council Centre for Neuropsychiatric Genetics and Genomics, Cardiff University, Cardiff CF24 4HQ, Wales, UK.
Carlos N PatoSUNY Downstate Medical Center, Brooklyn, NY 11203, USA.
Michele T PatoSUNY Downstate Medical Center, Brooklyn, NY 11203, USA.
James A KnowlesDepartment of Psychiatry & Behavioral Sciences, Keck School of Medicine, University of Southern California, Los Angeles, CA 90033, USA.
Danielle PosthumaDepartment of Complex Trait Genetics, Center for Neurogenomics and Cognitive Research, VU University Amsterdam, 1081 HV Amsterdam, the Netherlands.
David L PaulsPsychiatric and Neurodevelopmental Genetics Unit, Center for Genomic Medicine, Department of Psychiatry, Massachusetts General Hospital, Boston, MA 02114, USA.
Nancy J CoxDivision of Genetic Medicine, Vanderbilt Genetics Institute, Vanderbilt University Medical Center, Nashville, TN 37232, USA.
Benjamin M NealePsychiatric and Neurodevelopmental Genetics Unit, Center for Genomic Medicine, Department of Psychiatry, Massachusetts General Hospital, Boston, MA 02114, USA; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.
Nelson B FreimerSemel Institute for Neuroscience and Human Behavior, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA; Department of Psychiatry and Biobehavioral Sciences, University of California, Los Angeles, Los Angeles, CA 90095, USA.
Peristera PaschouDepartment of Biological Sciences, Purdue University, West Lafayette, IN 47907, USA.
Carol A MathewsDepartment of Psychiatry, Genetics Institute, University of Florida, Gainesville, FL 32611, USA.
Jeremiah M ScharfPsychiatric and Neurodevelopmental Genetics Unit, Center for Genomic Medicine, Department of Psychiatry, Massachusetts General Hospital, Boston, MA 02114, USA; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Department of Neurology, Massachusetts General Hospital, Boston, MA 02114, USA; Department of Neurology, Brigham and Women's Hospital, Boston, MA 02115, USA. Electronic address: jscharf@partners.org.
Giovanni CoppolaSemel Institute for Neuroscience and Human Behavior, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA; Department of Psychiatry and Biobehavioral Sciences, University of California, Los Angeles, Los Angeles, CA 90095, USA. Electronic address: gcoppola@ucla.edu.
Tourette Syndrome Association International Consortium for Genetics (TSAICG)
Gilles de la Tourette Syndrome GWAS Replication Initiative (GGRI)
Funding
UCLA-Caltech Medical Scientist Training ProgramT32GM008042 · NIGMS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI AJIJOLA, OLUJIMI A, DAWSON, DAVID WAYNE · 1985 to 2023
$29.9MGenomic Psychiatry CohortR01MH085548 · NIMH · UNIVERSITY OF SOUTHERN CALIFORNIA · PI PATO, CARLOS N, PATO, MICHELE T · 2008 to 2012
$16.3MA 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
$9.0MA Genetic Linkage Study of GTSU01NS040024 · NINDS · TOURETTE ASSOCIATION OF AMERICA, INC. · PI SCHARF, JEREMIAH M · 2007 to 2012
$8.0MIntegrating Common and Rare Variation to Discover Genes Associated with Tourette SyndromeR01NS102371 · NINDS · MASSACHUSETTS GENERAL HOSPITAL · PI MATHEWS, CAROL A, OPHOFF, ROEL A · 2018 to 2022
$7.4MIntegrative Center for Neurogenetics and Neurogenomics - OverallP30NS062691 · NINDS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI COPPOLA, GIOVANNI · 2009 to 2018
$7.4MUCLA Center for Translational Research in Neurodevelopment: UC-TRaNU54HD087101 · NICHD · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI MCCRACKEN, JAMES T. · 2016 to 2020
$6.5MLarge-Scale Collaborative Genetic and Epigenetic Studies of Tourette SyndromeR01NS105746 · NINDS · MASSACHUSETTS GENERAL HOSPITAL · PI MATHEWS, CAROL A, PASCHOU, PERISTERA · 2019 to 2023
$3.1M5/7 Psychiatric Genomics Consortium: Finding actionable variationU01MH109514 · NIMH · CARDIFF UNIVERSITY · PI O'DONOVAN, MICHAEL · 2016 to 2020
$2.9MRefining the Tourette Syndrome phenotype across diagnoses to aid gene discoveryR01MH096767 · NIMH · UNIVERSITY OF FLORIDA · PI MATHEWS, CAROL A · 2013 to 2015
$1.2MAdvancing Tourette Syndrome genetics using bioinformatics and genome biologyK02NS085048 · NINDS · MASSACHUSETTS GENERAL HOSPITAL · PI SCHARF, JEREMIAH M · 2014 to 2018
$1.0MNICHD NIH HHS U54 HD087101NIMH NIH HHS K23 MH085057NIMH NIH HHS R01 MH085548NIMH NIH HHS R01 MH096767NIMH NIH HHS U01 MH109514NINDS NIH HHS K02 NS085048NINDS NIH HHS P30 NS062691NINDS NIH HHS R01 NS016648NINDS NIH HHS R01 NS040024NINDS NIH HHS R01 NS102371NINDS NIH HHS R01 NS105746NINDS NIH HHS U01 NS040024
Abstract
Tourette syndrome (TS) is a model neuropsychiatric disorder thought to arise from abnormal development and/or maintenance of cortico-striato-thalamo-cortical circuits. TS is highly heritable, but its underlying genetic causes are still elusive, and no genome-wide significant loci have been discovered to date. We analyzed a European ancestry sample of 2,434 TS cases and 4,093 ancestry-matched controls for rare (< 1% frequency) copy-number variants (CNVs) using SNP microarray data. We observed an enrichment of global CNV burden that was prominent for large (> 1 Mb), singleton events (OR = 2.28, 95% CI [1.39-3.79], p = 1.2 × 10
Indexed as
DNA Copy Number VariationsAdolescentAdultCalcium-Binding ProteinsCase-Control StudiesCell Adhesion Molecules, NeuronalChildContactinsFemaleGenetic Predisposition to DiseaseGenome-Wide Association StudyGenotypeHumansMaleNerve Tissue ProteinsNeural Cell Adhesion MoleculesCalcium-Binding ProteinsCell Adhesion Molecules, NeuronalCNTN6 protein, humanContactinsNerve Tissue ProteinsNeural Cell Adhesion MoleculesNRXN1 protein, humanCNTN6copy number variationgeneticsneurodevelopmental disordersNRXN1structural variationtic disordersTourette Syndrome
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