ArticleNeuron2017
De Novo Coding Variants Are Strongly Associated with Tourette Disorder.
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In one paragraph
Article in Neuron, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 121 papers, 6 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
121citing papers in PubMed, 6 pooled it
19.6field-weighted citation impact, top 1% of its field
What it found
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Who cites it
121 citing papers in PubMed, 6 syntheses or guidelines pooled it, 194 citations in OpenAlex.
- Genome-wide analyses identify 30 loci associated with obsessive-compulsive disorder.Nature genetics · 2025Pooled it
- Genome-Wide Association Study Meta-Analysis of 9619 Cases With Tic Disorders.Biological psychiatry · 2025Pooled it
- Dopamine in Tourette syndrome: a 30-year bibliometric analysis of hotspot evolution.Frontiers in neurology · 2025Pooled it
- An updated catalog ofFrontiers in molecular neuroscience · 2023Pooled 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 research highlights from 2017.F1000Research · 2018Pooled it
- Tourette syndrome.Nature reviews. Disease primers · 2026Review
- Persistent tic disorders are associated with 17q12 duplications.Molecular psychiatry · 2026Article
- Whole-exome sequencing in individuals with obsessive-compulsive disorder and chronic tic disorders identifies 36 large-effect risk genes.Nature neuroscience · 2026Article
- Advancements in the Understanding of the Genetics of Obsessive-Compulsive Disorder (OCD).Current psychiatry reports · 2026Review
- Article
- The expanding roles of adhesion GPCRs in neural circuit assembly.Molecules and cells · 2026Review
- Genetic architecture and clinical features of Tourette syndrome in a child and adolescent cohort: an explorative clinical exome-based study.Frontiers in psychiatry · 2026Article
- Rare coding variation in OCD implicates shared genes with other psychiatric disorders.medRxiv : the preprint server for health sciences · 2025Article
- Oligogenic risk score for Gilles de la Tourette syndrome reveals a genetic continuum of tic disorders.Journal of applied genetics · 2025Article
- Adhesion G-Protein Coupled Receptors in Neurological and Psychiatric Disorders.Journal of psychiatry and brain science · 2025Article
- [Update on tic disorders and Tourette syndrome].Der Nervenarzt · 2025Review
- Identifying Distinct Tourette Disorder Subtypes using Clinical Data.medRxiv : the preprint server for health sciences · 2025Article
- De novo variant analysis of childhood-onset obsessive-compulsive disorder in the French-Canadian population.Translational psychiatry · 2025Article
- Mitochondrial Genome Variants and Nuclear Mitochondrial DNA Segments in 7331 Individuals from NyuWa and 1KGP.Genomics, proteomics & bioinformatics · 2025Article
61 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
22 authors at 11 institutions in 2 countries.
A Jeremy WillseyDepartment of Psychiatry, UCSF Weill Institute for Neurosciences, University of California San Francisco, San Francisco, CA 94143, USA; Institute for Neurodegenerative Diseases, UCSF Weill Institute for Neurosciences, University of California San Francisco, San Francisco, CA 94143, USA.
Thomas V FernandezYale Child Study Center and Department of Psychiatry, Yale University School of Medicine, New Haven, CT 06520, USA.
Dongmei YuCenter for Genomic Medicine, Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114, USA; Psychiatric and Neurodevelopmental Genetics Unit, Department of Psychiatry, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114, USA.
Robert A KingYale Child Study Center and Department of Psychiatry, Yale University School of Medicine, New Haven, CT 06520, USA.
Andrea DietrichUniversity of Groningen, University Medical Center Groningen, Department of Child and Adolescent Psychiatry, 9713GZ Groningen, the Netherlands.
Jinchuan XingRutgers, the State University of New Jersey, Department of Genetics and the Human Genetics Institute of New Jersey, Piscataway, NJ 08854, USA.
Stephan J SandersDepartment of Psychiatry, UCSF Weill Institute for Neurosciences, University of California San Francisco, San Francisco, CA 94143, USA.
Jeffrey D MandellDepartment of Psychiatry, UCSF Weill Institute for Neurosciences, University of California San Francisco, San Francisco, CA 94143, USA; Institute for Neurodegenerative Diseases, UCSF Weill Institute for Neurosciences, University of California San Francisco, San Francisco, CA 94143, USA.
Alden Y HuangDepartment of Neurology, University of California Los Angeles, Los Angeles, California, CA 90095, USA; Department of Psychiatry and Biobehavioral Sciences, University of California Los Angeles, Los Angeles, CA 90095, USA.
Petra RicherYale Child Study Center and Department of Psychiatry, Yale University School of Medicine, New Haven, CT 06520, USA; Sewanee: The University of the South, Sewanee, TN 37383, USA.
Louw SmithDepartment of Psychiatry, UCSF Weill Institute for Neurosciences, University of California San Francisco, San Francisco, CA 94143, USA.
Shan DongDepartment of Psychiatry, UCSF Weill Institute for Neurosciences, University of California San Francisco, San Francisco, CA 94143, USA.
Kaitlin E SamochaCenter for Genomic Medicine, Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114, USA; Psychiatric and Neurodevelopmental Genetics Unit, Department of Psychiatry, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114, USA.
Tourette International Collaborative Genetics (TIC Genetics)
Tourette Syndrome Association International Consortium for Genetics (TSAICG)
Benjamin M NealeCenter for Genomic Medicine, Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114, USA; Psychiatric and Neurodevelopmental Genetics Unit, Department of Psychiatry, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114, USA.
Giovanni CoppolaDepartment of Neurology, University of California Los Angeles, Los Angeles, California, CA 90095, USA; Department of Psychiatry and Biobehavioral Sciences, University of California Los Angeles, Los Angeles, CA 90095, USA.
Carol A MathewsDepartment of Psychiatry, University of Florida School of Medicine, Gainesville, FL 32611, USA.
Jay A TischfieldRutgers, the State University of New Jersey, Department of Genetics and the Human Genetics Institute of New Jersey, Piscataway, NJ 08854, USA.
Jeremiah M ScharfCenter for Genomic Medicine, Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114, USA; Psychiatric and Neurodevelopmental Genetics Unit, Department of Psychiatry, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114, USA. Electronic address: jscharf@partners.org.
Matthew W StateDepartment of Psychiatry, UCSF Weill Institute for Neurosciences, University of California San Francisco, San Francisco, CA 94143, USA. Electronic address: matthew.state@ucsf.edu.
Gary A HeimanRutgers, the State University of New Jersey, Department of Genetics and the Human Genetics Institute of New Jersey, Piscataway, NJ 08854, USA. Electronic address: heiman@dls.rutgers.edu.
University of California, San Francisco · USRutgers, The State University of New Jersey · USYale University · USHarvard University · USMassachusetts General Hospital · USNeurobehavioral Systems · USUniversity of California, Los Angeles · USUniversity of Florida · USSewanee: The University of the South · USUniversity Medical Center Groningen · NLUniversity of Groningen · NL
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
$213.8MHarvard Clinical and Translational Science CenterUL1TR001102 · NCATS · HARVARD MEDICAL SCHOOL · PI NADLER, LEE MARSHALL · 2013 to 2017
$106.2MA Genetic Linkage Study of GTSU01NS040024 · NINDS · TOURETTE ASSOCIATION OF AMERICA, INC. · PI SCHARF, JEREMIAH M · 2007 to 2012
$8.0M1/7 Collaborative Genomic Studies of Tourette Disorder.R01MH115958 · NIMH · RUTGERS, THE STATE UNIV OF N.J. · PI HEIMAN, GARY A., TISCHFIELD, JAY ARNOLD · 2018 to 2023
$6.8MResearch Training for Medical Students & Physician-Scientists in Child PsychiatryR25MH077823 · NIMH · YALE UNIVERSITY · PI ANDRES S MARTIN · 2006 to 2026
$4.0MAVA,Dx: Analysis of Variation for Association with DiseaseU01GM115486 · NIGMS · RUTGERS, THE STATE UNIV OF N.J. · PI BROMBERG, YANA · 2015 to 2018
$1.2MAdvancing Tourette Syndrome genetics using bioinformatics and genome biologyK02NS085048 · NINDS · MASSACHUSETTS GENERAL HOSPITAL · PI SCHARF, JEREMIAH M · 2014 to 2018
$1.0MTranslational phenomics and genomics of Gilles de la Tourette SyndromeK23MH085057 · NIMH · MASSACHUSETTS GENERAL HOSPITAL · PI SCHARF, JEREMIAH M · 2009 to 2013
$929k2/8-Collaborative genomic studies of Tourette DisorderR01MH092289 · NIMH · YALE UNIVERSITY · PI STATE, MATTHEW W. · 2011 to 2013
$898kGenomic Investigations of Tourette's DisorderK08MH099424 · NIMH · YALE UNIVERSITY · PI FERNANDEZ, THOMAS V · 2012 to 2015
$718k1/8-Collaborative genomic studies of Tourette DisorderR01MH092293 · NIMH · RUTGERS, THE STATE UNIV OF N.J. · PI HEIMAN, GARY A., TISCHFIELD, JAY ARNOLD · 2011 to 2013
$510kCollaborative Genomic Studies of Tourette Disorder SupplementR01MH115961 · NIMH · UNIVERSITY OF IOWA · PI KUPERMAN, SAMUEL · 2018 to 2022
$475kNCATS NIH HHS UL1 TR001102NIGMS NIH HHS U01 GM115486NIMH NIH HHS K08 MH099424NIMH NIH HHS K23 MH085057NIMH NIH HHS L40 MH081784NIMH NIH HHS R01 MH092289NIMH NIH HHS R01 MH092290NIMH NIH HHS R01 MH092291NIMH NIH HHS R01 MH092292NIMH NIH HHS R01 MH092293NIMH NIH HHS R01 MH092513NIMH NIH HHS R01 MH092516NIMH NIH HHS R01 MH092520NIMH NIH HHS R01 MH115958NIMH NIH HHS R01 MH115961NIMH NIH HHS R01 MH115993NIMH NIH HHS R25 MH077823NIMH NIH HHS U24 MH068457NINDS NIH HHS K02 NS085048NINDS NIH HHS U01 NS040024
Abstract
Whole-exome sequencing (WES) and de novo variant detection have proven a powerful approach to gene discovery in complex neurodevelopmental disorders. We have completed WES of 325 Tourette disorder trios from the Tourette International Collaborative Genetics cohort and a replication sample of 186 trios from the Tourette Syndrome Association International Consortium on Genetics (511 total). We observe strong and consistent evidence for the contribution of de novo likely gene-disrupting (LGD) variants (rate ratio [RR] 2.32, p = 0.002). Additionally, de novo damaging variants (LGD and probably damaging missense) are overrepresented in probands (RR 1.37, p = 0.003). We identify four likely risk genes with multiple de novo damaging variants in unrelated probands: WWC1 (WW and C2 domain containing 1), CELSR3 (Cadherin EGF LAG seven-pass G-type receptor 3), NIPBL (Nipped-B-like), and FN1 (fibronectin 1). Overall, we estimate that de novo damaging variants in approximately 400 genes contribute risk in 12% of clinical cases. VIDEO ABSTRACT.
Indexed as
AdultCadherinsCell Cycle ProteinsChildCohort StudiesFemaleFibronectinsGenetic Predisposition to DiseaseGenetic VariationHumansIntracellular Signaling Peptides and ProteinsMaleMutationOdds RatioParentsPhosphoproteinsCadherinsCell Cycle ProteinsCelsr3 protein, humanFibronectinsFN1 protein, humanIntracellular Signaling Peptides and ProteinsNIPBL protein, humanPhosphoproteinsProteinsReceptors, Cell SurfaceWWC1 protein, humande novo variantsgene discoveryTIC GeneticsTourette disorderTourette syndromeTSAICGwhole-exome sequencing
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