ArticleCell reports2018
De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis.
Erratum issuedOpen access · goldAbstract read
In one paragraph
Article in Cell reports, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 68 papers, 2 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
68citing papers in PubMed, 2 pooled it
19.6field-weighted citation impact, top 1% of its field
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
68 citing papers in PubMed, 2 syntheses or guidelines pooled it, 129 citations in OpenAlex.
- The genetics of trichotillomania and excoriation disorder: A systematic review.Comprehensive psychiatry · 2024Pooled 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
- Genetic architecture of postpartum psychosis: from common to rare genetic variation.Molecular psychiatry · 2026Article
- 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
- A genomic study of trichotillomania and excoriation disorder in families.Translational psychiatry · 2026Article
- MarkerMatch: a proximity-based probe-matching algorithm for joint analysis of copy-number variants from different genotyping arrays.Bioinformatics (Oxford, England) · 2026Article
- Rare Variants in Antisense Long Noncoding RNA-Protein-Coding Gene Overlap Regions Contribute to Obsessive-Compulsive Disorder.Biological psychiatry global open science · 2026Article
- The expanding roles of adhesion GPCRs in neural circuit assembly.Molecules and cells · 2026Review
- Adhesion G-Protein Coupled Receptors in Neurological and Psychiatric Disorders.Journal of psychiatry and brain science · 2025Article
- Oligogenic risk score for Gilles de la Tourette syndrome reveals a genetic continuum of tic disorders.Journal of applied genetics · 2025Article
- Identifying Distinct Tourette Disorder Subtypes using Clinical Data.medRxiv : the preprint server for health sciences · 2025Article
- Large-scale discovery of neural enhancers for cis-regulation therapies.bioRxiv : the preprint server for biology · 2025Article
- A Celsr3 Mutation Linked to Tourette Disorder Disrupts Cortical Dendritic Patterning and Striatal Cholinergic Interneuron Excitability.International journal of molecular sciences · 2025Article
- Rare coding mutations identify 36 large-effect risk genes in obsessive-compulsive disorder and chronic tic disorders.medRxiv : the preprint server for health sciences · 2025Article
- Tic-related behaviors in Celsr3 mutant mice are contributed by alterations of striatal DMolecular psychiatry · 2025Article
- Interneuron Loss and Microglia Activation by Transcriptome Analyses in the Basal Ganglia of Tourette Disorder.Biological psychiatry · 2025Article
- Rare Variant Analyses in Ancestrally Diverse Cohorts Reveal Novel ADHD Risk Genes.medRxiv : the preprint server for health sciences · 2025Article
- Rare de novo damaging DNA variants are enriched in attention-deficit/hyperactivity disorder and implicate risk genes.Nature communications · 2024Article
8 more citing papers are in PubMed but not listed here.
Corrections and comments
- Erratum issued
Authors and funding
35 authors at 12 institutions in 5 countries.
Sheng WangCollege of Biological Sciences, China Agricultural University, Beijing, China; National Institute of Biological Sciences, Beijing, China; Department of Psychiatry, UCSF Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA, USA; Institute for Neurodegenerative Diseases, UCSF Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA, USA.
Jeffrey D MandellDepartment of Psychiatry, UCSF Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA, USA; Institute for Neurodegenerative Diseases, UCSF Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA, USA.
Yogesh KumarDepartment of Biological Sciences, Purdue University, West Lafayette, IN, USA.
Nawei SunDepartment of Psychiatry, UCSF Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA, USA; Institute for Neurodegenerative Diseases, UCSF Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA, USA.
Montana T MorrisDepartment of Psychiatry, UCSF Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA, USA; Institute for Neurodegenerative Diseases, UCSF Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA, USA.
Juan ArbelaezDepartment of Psychiatry, UCSF Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA, USA; Institute for Neurodegenerative Diseases, UCSF Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA, USA.
Cara NaselloDepartment of Genetics and the Human Genetics Institute of New Jersey, Rutgers, the State University of New Jersey, Piscataway, NJ, USA.
Shan DongDepartment of Psychiatry, UCSF Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA, USA.
Clif DuhnDepartment of Psychiatry, UCSF Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA, USA; Institute for Neurodegenerative Diseases, UCSF Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA, USA.
Xin ZhaoDepartment of Psychiatry, UCSF Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA, USA; Institute for Neurodegenerative Diseases, UCSF Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA, USA; Department of Traditional Chinese Medicine, Xinhua Hospital Affiliated to Shanghai Jiatong University School of Medicine, Shanghai, China.
Zhiyu YangDepartment of Biological Sciences, Purdue University, West Lafayette, IN, USA.
Shanmukha S PadmanabhuniDepartment of Biological Sciences, Purdue University, West Lafayette, IN, USA.
Dongmei YuCenter for Genomic Medicine, Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA; Psychiatric and Neurodevelopmental Genetics Unit, Department of Psychiatry, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.
Robert A KingYale Child Study Center and Department of Psychiatry, Yale University School of Medicine, New Haven, CT, USA.
Andrea DietrichDepartment of Child and Adolescent Psychiatry, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands.
Najah KhalifaDepartment of Neuroscience, Child and Adolescent Psychiatry Uppsala University, Uppsala, Sweden; Centre for Research and Development, Region Gävleborg, Gävle, Sweden.
Niklas DahlDepartment of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Uppsala, Sweden.
Alden Y HuangDepartment of Neurology, University of California, Los Angeles, Los Angeles, CA, USA; Department of Psychiatry and Biobehavioral Sciences, University of California, Los Angeles, Los Angeles, CA, USA.
Benjamin M NealeCenter for Genomic Medicine, Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA; Psychiatric and Neurodevelopmental Genetics Unit, Department of Psychiatry, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.
Giovanni CoppolaDepartment of Neurology, University of California, Los Angeles, Los Angeles, CA, USA; Department of Psychiatry and Biobehavioral Sciences, University of California, Los Angeles, Los Angeles, CA, USA.
Carol A MathewsDepartment of Psychiatry, Genetics Institute, University of Florida, Gainesville, FL, USA.
Jeremiah M ScharfCenter for Genomic Medicine, Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA; Psychiatric and Neurodevelopmental Genetics Unit, Department of Psychiatry, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.
Tourette International Collaborative Genetics Study (TIC Genetics)
Tourette Syndrome Genetics Southern and Eastern Europe Initiative (TSGENESEE)
Tourette Association of America International Consortium for Genetics (TAAICG)
Thomas V FernandezYale Child Study Center and Department of Psychiatry, Yale University School of Medicine, New Haven, CT, USA.
Joseph D BuxbaumDepartment of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Silvia De RubeisDepartment of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Dorothy E GriceDepartment of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Jinchuan XingDepartment of Genetics and the Human Genetics Institute of New Jersey, Rutgers, the State University of New Jersey, Piscataway, NJ, USA.
Gary A HeimanDepartment of Genetics and the Human Genetics Institute of New Jersey, Rutgers, the State University of New Jersey, Piscataway, NJ, USA.
Jay A TischfieldDepartment of Genetics and the Human Genetics Institute of New Jersey, Rutgers, the State University of New Jersey, Piscataway, NJ, USA.
Peristera PaschouDepartment of Biological Sciences, Purdue University, West Lafayette, IN, USA. Electronic address: ppaschou@purdue.edu.
A Jeremy WillseyDepartment of Psychiatry, UCSF Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA, USA; Institute for Neurodegenerative Diseases, UCSF Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA, USA; Quantitative Biosciences Institute (QBI), University of California, San Francisco, San Francisco, CA, USA. Electronic address: jeremy.willsey@ucsf.edu.
Matthew W StateDepartment of Psychiatry, UCSF Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA, USA; Quantitative Biosciences Institute (QBI), University of California, San Francisco, San Francisco, CA, USA. Electronic address: matthew.state@ucsf.edu.
University of California, San Francisco · USRutgers, The State University of New Jersey · USIcahn School of Medicine at Mount Sinai · USPurdue University West Lafayette · USYale University · USUniversity of California, Los Angeles · USHarvard University · USMassachusetts General Hospital · USQB3 · USUniversity Medical Center Groningen · NLUniversity of Florida · USUppsala University · SE
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
$106.2MYale Center for Mendelian GenomicsUM1HG006504 · NHGRI · YALE UNIVERSITY · PI GERSTEIN, MARK BENDER, GUNEL, MURAT · 2016 to 2020
$14.8MIntegrating 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
$7.4M1/7 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
$6.8MNHGRI Genome Sequencing Program Coordinating CenterU24HG008956 · NHGRI · RUTGERS, THE STATE UNIV OF N.J. · PI BUYSKE, STEVEN G, MATISE, TARA C. · 2016 to 2020
$4.9MResearch Training for Medical Students & Physician-Scientists in Child PsychiatryR25MH077823 · NIMH · YALE UNIVERSITY · PI ANDRES S MARTIN · 2006 to 2026
$4.0MLarge-Scale Collaborative Genetic and Epigenetic Studies of Tourette SyndromeR01NS105746 · NINDS · MASSACHUSETTS GENERAL HOSPITAL · PI MATHEWS, CAROL A, PASCHOU, PERISTERA · 2019 to 2023
$3.1MAVA,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
$1.0M2/8-Collaborative genomic studies of Tourette DisorderR01MH092289 · NIMH · YALE UNIVERSITY · PI STATE, MATTHEW W. · 2011 to 2013
$898k4/7-Collaborative genomic studies of Tourette DisorderR01MH115962 · NIMH · CINCINNATI CHILDRENS HOSP MED CTR · PI GILBERT, DONALD L · 2018 to 2022
$810kNCATS NIH HHS UL1 TR001102NHGRI NIH HHS U24 HG008956NHGRI NIH HHS UM1 HG006504NIGMS NIH HHS R01 GM115486NIGMS NIH HHS U01 GM115486NIMH NIH HHS K08 MH099424NIMH 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 MH115959NIMH NIH HHS R01 MH115961NIMH NIH HHS R01 MH115962NIMH NIH HHS R01 MH115993NIMH NIH HHS R25 MH077823NIMH NIH HHS U24 MH068457NINDS NIH HHS K02 NS085048NINDS NIH HHS R01 NS102371NINDS NIH HHS R01 NS105746
Abstract
We previously established the contribution of de novo damaging sequence variants to Tourette disorder (TD) through whole-exome sequencing of 511 trios. Here, we sequence an additional 291 TD trios and analyze the combined set of 802 trios. We observe an overrepresentation of de novo damaging variants in simplex, but not multiplex, families; we identify a high-confidence TD risk gene, CELSR3 (cadherin EGF LAG seven-pass G-type receptor 3); we find that the genes mutated in TD patients are enriched for those related to cell polarity, suggesting a common pathway underlying pathobiology; and we confirm a statistically significant excess of de novo copy number variants in TD. Finally, we identify significant overlap of de novo sequence variants between TD and obsessive-compulsive disorder and de novo copy number variants between TD and autism spectrum disorder, consistent with shared genetic risk.
Indexed as
DNA Copy Number VariationsAdultCadherinsCell PolarityChildFemaleHumansMalePedigreeReceptors, Cell SurfaceTourette SyndromeCadherinsCelsr3 protein, humanReceptors, Cell Surfacecell polaritycopy number variantsde novo variantsgene discoverymicroarray genotypingmultiplexsimplexTIC GeneticsTourette disorderwhole exome sequencing
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