Interrogating the Genetic Determinants of Tourette’s Syndrome and Other Tic Disorders Through Genome-Wide Association Studies

https://m2.mtmt.hu/ hun 2026-07-22 03:30 true true 1 4 4 1 100 1 4 DESC publishedYear false ASC firstAuthor true ASC title true JournalArticle 30547689 APPROVED true Psychiatric and Neurodevelopmental Genetics Unit, Center for Genomic Medicine, Department of Psychiatry, Massachusetts General Hospital, Boston, United States Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, United States Semel Institute for Neuroscience and Human Behavior, David Geffen School of Medicine, University of California, Los Angeles, United States Department of Psychiatry and Biobehavioral Sciences, University of California, Los Angeles, United States Department of Molecular Biology and Genetics, Democritus University of Thrace, Xanthi, Greece Department of Biological Sciences, Purdue University, West Lafayette, ID, United States DeCODE Genetics/Amgen, Reykjavik, Iceland Bioinformatics Interdepartmental Program, University of California, Los Angeles, United States Department of Psychiatry, University of California, San Francisco, United States Department of Psychiatry, UCSF Weill Institute for Neurosciences, University of California, San Francisco, United States Department of Psychiatry, Massachusetts General Hospital, Boston, United States Clinic of Psychiatry, Social Psychiatry, and Psychotherapy, Hannover Medical School, Hannover, Germany Institute of Human Genetics, Hannover Medical School, Hannover, Germany McGill University Health Center, University of Montreal, McGill University Health Centre, Montreal, Canada Montreal Neurological Institute, Department of Neurology and Neurosurgery, McGill University, Montreal, Canada Department of Psychiatry and Psychotherapy, Medical University Vienna, Vienna, Austria Biopsychosocial Corporation, Vienna, Austria University Health Network, Youthdale Treatment Centres, University of Toronto, Toronto, Canada Krembil Research Institute, University Health Network, Hospital for Sick Children, University of Toronto, Toronto, Canada Johns Hopkins University, School of Medicine, Baltimore, United States Institute of Human Genetics, University Hospital Bonn, University of Bonn Medical School, Bonn, Germany Department of Child and Adolescent Psychiatry, Psycho-somatics, and Psychotherapy, University Hospital Essen, University of Duisburg-Essen, Essen, Germany Yale Child Study Center, Department of Psychiatry, Yale University, School of Medicine, New Haven, MA, United States Institute of Medical Chemistry, Molecular Biology, and Pathobiochemistry, Semmelweis University, Budapest, Hungary Vadaskert Child and Adolescent Psychiatric Hospital, Budapest, Hungary Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany Sorbonne Universités, UPMC Université Paris 06, UMR S 1127, CNRS UMR 7225, ICM, Paris, France French Reference Centre for Gilles de la Tourette Syndrome, Groupe Hospitalier Pitié-Salpêtrière, Paris, France Assistance Publique-Hôpitaux de Paris, Department of Neurology, Groupe Hospitalier Pitié-Salpêtrière, Paris, France Zucker School of Medicine at Hofstra/Northwell, Hempstead, NY, United States Child Neuropsychiatry, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy Stanley Institute for Cognitive Genomics, Cold Spring Harbor Laboratory, Cold Spring Harbor, NY, United States Department of Psychiatry, University of Utah, Salt Lake City, United States Children's Mercy Hospital, Kansas City, MO, United States Department of Psychiatry, University Medical Center Groningen, Rijks-university Groningen, Drenthe Mental Health Center, Groningen, Netherlands Department of Neurology, Fixel Center for Neurological Diseases, McKnight Brain Institute, University of Florida, Gainesville, United States Pennsylvania State University, College of Medicine, Hershey, United States Marquette University, University of Wisconsin-Milwaukee, Milwaukee, United States Tripler Army Medical Center, University of Hawaii John A. Burns, School of Medicine, Honolulu, United States Parkinson's Disease Center and Movement Disorders Clinic, Department of Neurology, Baylor College of Medicine, Houston, United States Division of Psychiatry, Department of Neuropsychiatry, University College London, United Kingdom Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, United States Children's Hospital of Philadelphia, Philadelphia, United States Department of Psychiatry and Behavioral Sciences, University of Miami Miller, School of Medicine, Miami, United States Department of Child and Adolescent Psychiatry, University Medical Center Groningen, University of Groningen, Groningen, Netherlands University of Iowa Carver, College of Medicine, Iowa City, United States Department of Pediatrics, University of Washington, Seattle, United States Department of Pediatrics, Landspitalinn University Hospital, Reykjavik, Iceland Faculty of Medicine, University of Iceland, Reykjavík, Iceland State Diagnostic and Coun-selling Centre, Kópavogur, Iceland Department of Genetics, Department of Medicine, Albert Einstein College of Medicine, Bronx, NY, United States Department of Human Biology, Haifa University, Haifa, Israel Department of Psychiatry and Psychotherapy, University of Bonn, Bonn, Germany Department of Psychiatry and Psychotherapy, University of Tübingen, Tübingen, Germany SUNY Downstate Medical Center, Brooklyn, NY, United States Athinoula A. Martinos Center for Biomedical Research, Department of Radiology, Massachusetts General Hospital, Charlestown, United States Department of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, United States Center for Brain Science, Department of Psychology, Harvard University, Cambridge, MA, United States Institute for Neurodegenerative Diseases, UCSF Weill Institute for Neurosciences, University of California San Francisco, San Francisco, United States Department of Genetics, Human Genetics Institute of New Jersey, Rutgers, State University of New Jersey, Piscataway, United States Department of Complex Trait Genetics, Center for Neurogenomics and Cognitive Research, VU University Amsterdam, Amsterdam, Netherlands Division of Genetic Medicine, Vanderbilt Genetics Institute, Vanderbilt University Medical Center, Nashville, TN, United States Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, United States Department of Psychiatry, Genetics Institute, University of Florida, Gainesville, United States Department of Neurology, Brigham and Women's Hospital, Department of Neurology, Massachusetts General Hospital, Boston, United States Cited By :108 Export Date: 1 March 2023 CODEN: AJPSA Correspondence Address: Scharf, J.M.; Psychiatric and Neurodevelopmental Genetics Unit, United States; email: jscharf@partners.org Chemicals/CAS: FLT3 protein, human; fms-Like Tyrosine Kinase 3 Funding details: MH096767, NS040024-07S1, NS040024-09S1 Funding details: U01 HG004422 Funding details: P30AG038072, R01AG042188 Funding details: National Science Foundation, NSF, 1715202 Funding details: National Institutes of Health, NIH, P01AG021654, R01MH092289, R01MH092290, R01MH092291, R01MH092292, R01MH092293, R01MH092513, R01MH092516, R01MH092520 Funding details: National Institute of Mental Health, NIMH, K23MH085057, R01MH096767, R01MH115958, R25MH077823, U01MH109536 Funding details: National Institute on Drug Abuse, NIDA, HHSN268200782096C Funding details: National Institute on Alcohol Abuse and Alcoholism, NIAAA Funding details: National Institute of Neurological Disorders and Stroke, NINDS, K02NS085048, P30NS062691, R01NS016648, U01NS040024 Funding details: Center for Information Technology, CIT Funding details: Women's Health Initiative, WHI Funding details: Greater Boston Council on Alcoholism, GBCoA, U10 AA008401 Funding details: Johns Hopkins University, JHU, U01HG004438 Funding details: Tourette Association of America, TAA Funding details: Collaborative Spine Research Foundation, CSRF, P01 CA089392 Funding details: Seattle Genetics Funding details: Australian Institute of Family Studies, AIFS, R01 DA013423 Funding details: Research Trainees Coordinating Centre, TCC, U01 HG004446 Funding details: Directorate-General for the Environment Funding details: Deutsche Forschungsgemeinschaft, DFG Funding details: National Radio Research Agency, RRA Funding details: Centre of Excellence in Plant Energy Biology, Australian Research Council, PEB Funding details: Retinologische Gesellschaft Funding details: Faculty of Science, Agriculture and Engineering, Newcastle University, SAgE Funding text 1: Prothena Biosciences, Parexel, Revance Therapeutics, Retrophin, and Teva; he has received royalties from Cambridge, Elsevier, Future Science Group,HodderArnold,Medlink:Neurology,LippincottWilliams&Wilkins, and Wiley-Blackwell; and he serves on the editorial boards of Expert Review of Neurotherapeutics, Medlink, Neurology in Clinical Practice, the Botulinum Journal, PeerJ, Therapeutic Advances in Neurological Disorders, Neurotherapeutics, Tremor and Other Hyperkinetic Movements, and the Journal of Parkinson’s Disease. Dr. Coffey is on the scientific advisory boards of Abide Therapeutics and Genco Sciences; she receives honoraria from the American Academy of Child and Adolescent Psychiatry; she receives research support from Catalyst Pharmaceuticals, Neurocrine Biosciences, NIMH/UCSF, Otsuka, and Shire; she is on the scientific advisory boards of and receives research support from Auspex, Teva, and Nuvelution; and she is a co-chair and on the medical advisory board of the TAA, TAA-CDC Partnership. Dr. Kuperman is involved with Neurocrine for the purpose of recruiting a small number of individuals with Tourette syndrome for enrollment in a drug trial for a new medication to treat severe Tourette’s syndrome. Dr. Wagner has received a nonprofit grant from the German Research Foundation. Dr. Smoller is an unpaid member of the Bipolar/Depression Research Community Advisory Panel of 23andMe. Dr. Buckner has served as a consultant for Roche. Dr. Willsey has served as a consultant for Daiichi Sankyo. Dr. Heiman has received funding from the New Jersey Center for Tourette Syndrome and Associated Disorders. Dr.NealeisamemberofthescientificadvisoryboardforDeepGenomics and serves as a consultant for Avanir, Camp4 Therapeutics, and Merck. Dr. Mathews has received research support, honoraria, and travel support from the TAA and is a co-chair of the TAA scientific advisory board. Dr. Scharf has received consulting fees from Nuvelution Pharma and Abide Pharmaceuticals; he has received travel and grant support from the TAA and the TLC Foundation for Body-Focused Repetitive Behaviors; and he is a member of the scientific advisory boards for the TAA and the TLC Foundation for Body-Focused Repetitive Behaviors. The other authors report no financial relationships with commercial interests. Funding text 2: Supported by NIH grants U01 NS040024 to Drs. Pauls, Mathews, and Scharf and the Tourette Association of America International Consortium for Genetics, NIH grants K23 MH085057 and K02 NS085048 and ARRA grant NS040024-09S1 to Dr. Scharf, NIH grant NS016648 and ARRA grant NS040024-07S1 to Dr. Pauls, grant MH096767 to Dr. Mathews, National Institute of Neurological Disorders and Stroke (NINDS) Informatics Center for Neurogenetics and Neurogenomics grant P30 NS062691 to Drs. Coppola and Freimer, and grants from the Tourette Association of America to Drs. Paschou, Pauls, Mathews, and Scharf. This study was also funded in part by NIH grants R01MH092290 to Dr. Brown, R01MH092291 to Dr. Kuperman, R01MH092292 to Dr. Coffey, R01MH092293 to Dr. Heiman, R01MH092513 to Dr. Zinner, R01MH092516 to Dr. Grice, R01MH092520 to Dr. Gilbert, R01MH092289 to Dr. State, P01AG021654 and the Nathan Shock Center of Excellence for the Biology of Aging P30AG038072 to Dr. Barzilai, and R01AG042188 to Dr. Atzmon, as well as a grant from the German Research Society to Dr. Hebebrand. Funding support for the Study of Addiction: Genetics and Environment (SAGE) was provided through the NIH Genes, Environment, and Health Initiative [GEI] (U01 HG004422); SAGE is one of the genomewide association studies funded as part of the Gene Environment Association Studies (GENEVA) under the NIH GEI. Assistance with phenotype harmonization and genotype cleaning, as well as with general study coordination, was provided by the GENEVA Coordinating Center (U01 HG004446). Assistance with data cleaning was provided by the National Center for Biotechnology Information. Support for collection of data sets and samples was provided by the Collaborative Study on the Genetics of Alcoholism (U10 AA008401), the Collaborative Genetic Study of Nicotine Dependence (P01 CA089392), and the Family Study of Cocaine Dependence (R01 DA013423). Funding support for genotyping, which was performed at the Johns Hopkins University Center for Inherited Disease Research, was provided by the NIH GEI (U01HG004438), the National Institute on Alcohol Abuse and Alcoholism, NIDA, and the NIH contract “High Throughput Genotyping for Studying the Genetic Contributions to Human Disease” (HHSN268200782096C). The data sets used for the analyses described here were obtained from dbGaP (http://www.ncbi.nlm. nih.gov/projects/gap/cgibin/study.cgi?study_id=phs000092.v1.p1) through dbGaP accession number phs000092.v1.p. Funding text 3: Supported by NIH grants U01 NS040024 to Drs. Pauls, Mathews, and Scharf and the Tourette Association of America International Consortium for Genetics, NIH grants K23 MH085057 and K02 NS085048 and ARRA grant NS040024-09S1 to Dr. Scharf, NIH grant NS016648 and ARRA grant NS040024-07S1 to Dr. Pauls, grant MH096767 to Dr. Mathews, National Institute of Neurological Disorders and Stroke (NINDS) Informatics Center for Neurogenetics and Neurogenomics grant P30 NS062691 to Drs. Coppola and Freimer, and grants from the Tourette Association of America to Drs. Paschou, Pauls, Mathews, and Scharf. This study was also funded in part by NIH grants R01MH092290 to Dr. Brown, R01MH092291 to Dr. Kuperman, R01MH092292 to Dr. Coffey, R01MH092293 to Dr. Heiman, R01MH092513 to Dr. Zinner, R01MH092516 to Dr. Grice, R01MH092520 to Dr. Gilbert, R01MH092289 to Dr. State, P01AG021654 and the Nathan Shock Center of Excellence for the Biology of Aging P30AG038072 to Dr. Barzilai, and R01AG042188 to Dr. Atzmon, as well as a grant from the German Research Society to Dr. Hebebrand. Funding support for the Study of Addiction: Genetics and Environment (SAGE) was provided through the NIH Genes, Environment, and Health Initiative [GEI] (U01 HG004422); SAGE is one of the genome-wide association studies funded as part of the Gene Environment Association Studies (GENEVA) under the NIH GEI. Assistance with phenotype harmonization and genotype cleaning, as well as with general study coordination, was provided by the GENEVA Coordinating Center (U01 HG004446). Assistance with data cleaning was provided by the National Center for Biotechnology Information. Support for collection of data sets and samples was provided by the Collaborative Study on the Genetics of Alcoholism (U10 AA008401), the Collaborative Genetic Study of Nicotine Dependence (P01 CA089392), and the Family Study of Cocaine Dependence (R01 DA013423). Funding support for genotyping, which was performed at the Johns Hopkins University Center for Inherited Disease Research, was provided by the NIH GEI (U01HG004438), the National Institute on Alcohol Abuse and Alcoholism, NIDA, and the NIH contract “High Throughput Genotyping for Studying the Genetic Contributions to Human Disease” (HHSN268200782096C). 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Interrogating the Genetic Determinants of Tourette’s Syndrome and Other Tic Disorders Through Genome-Wide Association Studies. (2019) AMERICAN JOURNAL OF PSYCHIATRY 0002-953X 1535-7228 176 3 217-227<div class="JournalArticle Publication long-list"> <div class="authors"> <img title="Forrásközlemény" style="float: left" src="/frontend/resources/grid/publication-core-icon.png"> <img title="Idézőközlemény" style="float: left" src="/frontend/resources/grid/publication-citation-icon.png"> <div class="autype autype0"> <span class="author-name" >Yu Dongmei </span> ;    <span class="author-name" mtid="10023664"><a href="/gui2/?type=authors&mode=browse&sel=10023664" target="_blank">Barta Csaba (<span class="authorship-author-name">Barta Csaba</span> <span class="authorAux-mtmt"> pszichogenetika</span>) </a> </span> <span class="author-affil"><span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Intézet">I</span>/Orvosi Vegytani, Molekuláris Biológiai és Patobiokémiai Intézet</span> ;    <span class="author-name" mtid="10066513"><a href="/gui2/?type=authors&mode=browse&sel=10066513" target="_blank">Nagy Peter (<span class="authorship-author-name">Nagy Péter</span> <span class="authorAux-mtmt"> gyermek- és ifjúságpszichiátria</span>) </a> </span> ;    et al. (82) </div> <div class="autype autype-29"> Kollaborációs szervezet: <span class="author-affil">Tourette Association of America International Consortium for Genetics</span> ;    <span class="author-affil">Gilles de la Tourette GWAS Replication Initiative</span> ;    <span class="author-affil">Tourette International Collaborative Genetics Study</span> ;    <span class="author-affil">Psychiatric Genomics Consortium Tourette Syndrome Working Group</span> </div> <div><a target="_blank" href="/api/publication/30547689?labelLang=hun">Összes szerző</a></div> </div> <div class="title"><a href="/gui2/?mode=browse&params=publication;30547689" target="_blank">Interrogating the Genetic Determinants of Tourette’s Syndrome and Other Tic Disorders Through Genome-Wide Association Studies</a></div> <div> <span class="journal-title">AMERICAN JOURNAL OF PSYCHIATRY</span> <span class="journal-issn">(<a target="_blank" href="https://portal.issn.org/resource/ISSN/0002-953X">0002-953X</a> <a target="_blank" href="https://portal.issn.org/resource/ISSN/1535-7228">1535-7228</a>)</span>: <span class="journal-volume">176</span> <span class="journal-issue">3</span> <span class="page"> pp 217-227 </span> <span class="year">(2019)</span> </div> <div class="pub-footer"> <span class="language" xmlns="http://www.w3.org/1999/html">Nyelv: Angol | </span> <span class="identifiers"> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="10.1176/appi.ajp.2018.18070857" target="_blank" href="https://doi.org/10.1176/appi.ajp.2018.18070857"> DOI </a> </span> <span class="id identifier oa_RESTRICTED" title=" Korlátozott "> <a style="color:blue" title="7390" target="_blank" href="https://repo.lib.semmelweis.hu/handle/123456789/7390"> SE Repozitórium </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="000462846900007" target="_blank" href="https://www.webofscience.com/wos/woscc/full-record/000462846900007"> WoS </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="85063063105" target="_blank" href="http://www.scopus.com/record/display.url?origin=inward&eid=2-s2.0-85063063105"> Scopus </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="30818990" target="_blank" href="http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=30818990&dopt=Abstract"> PubMed </a> </span> </span> <OnlyViewableByAuthor><div class="ratings"> <div class="journal-subject">Folyóirat szakterülete: Scopus - Psychiatry and Mental Health   SJR indikátor: D1</div> </div></OnlyViewableByAuthor> <div class="publication-citation" style="margin-left: 0.5cm;"> <span title="Nyilvános idézőközlemények összesen, említések nélkül" class="citingPub-count">Nyilvános idéző összesen: 298</span> | Független: 237 | Függő: 61 | Nem jelölt: 0 | WoS jelölt: 274 | Scopus jelölt: 294 | WoS/Scopus jelölt: 298 | DOI jelölt: 296 </div> <div class="publication-citation"> <a target="_blank" href="/api/publication?cond=citations.related;eq;30547689&sort=publishedYear,desc&sort=title"> Idézett közlemények száma: 6 </a> </div> <div class="mtid"><span class="long-pub-mtid">Közlemény: 30547689</span> | <span class="status-data status-APPROVED"> Nyilvános </span> Forrás Idéző | <span class="type-subtype">Folyóiratcikk ( Sokszerzős vagy csoportos szerzőségű szakcikk ) </span> | <span class="pub-category">Tudományos</span> | <span class="publication-sourceOfData">kézi felvitel</span> </div> <div class="lastModified">Utolsó módosítás: 2025.01.15. 12:02 Cserteg Dóra (Bethesda 4 admin) </div> <pre class="comment" style="margin-top: 0; margin-bottom: 0;"><u>Megjegyzés</u>: Psychiatric and Neurodevelopmental Genetics Unit, Center for Genomic Medicine, Department of Psychiatry, Massachusetts General Hospital, Boston, United States Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, United States Semel Institute for Neuroscience and Human Behavior, David Geffen School of Medicine...</pre> </div></div> JournalArticle 30340629 APPROVED true College 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, United States Institute for Neurodegenerative Diseases, UCSF Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA, United States Department of Biological Sciences, Purdue University, West Lafayette, IN, United States Department of Genetics and the Human Genetics Institute of New Jersey, Rutgers, the State University of New Jersey, Piscataway, NJ, United States Department of Traditional Chinese Medicine, Xinhua Hospital Affiliated to Shanghai Jiatong University School of Medicine, Shanghai, China Center for Genomic Medicine, Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, United States Psychiatric and Neurodevelopmental Genetics Unit, Department of Psychiatry, Massachusetts General Hospital, Harvard Medical School, Boston, MA, United States Yale Child Study Center and Department of Psychiatry, Yale University School of Medicine, New Haven, CT, United States Department of Child and Adolescent Psychiatry, University of Groningen, University Medical Center Groningen, Groningen, Netherlands Department of Neuroscience, Child and Adolescent Psychiatry Uppsala University, Uppsala, Sweden Centre for Research and Development, Region Gävleborg, Gävle, Sweden Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Uppsala, Sweden Department of Neurology, University of California, Los Angeles, Los Angeles, CA, United States Department of Psychiatry and Biobehavioral Sciences, University of California, Los Angeles, Los Angeles, CA, United States Department of Psychiatry, Genetics Institute, University of Florida, Gainesville, FL, United States Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, United States Quantitative Biosciences Institute (QBI), University of California, San Francisco, San Francisco, CA, United States Export Date: 7 December 2018 Correspondence Address: Paschou, P.; Department of Biological Sciences, Purdue UniversityUnited States; email: ppaschou@purdue.edu Funding details: Fundación Mutua Madrileña Funding details: Peking University, PKU Funding details: Department of Health, DH, Copenhagen Funding details: University College London, UCL Funding details: Consejería de Economía, Innovación, Ciencia y Empleo, Junta de Andalucía, CVI-02526 Funding details: Consejería de Economía, Innovación, Ciencia y Empleo, Junta de Andalucía, CTS-7685 Funding details: 1HG006504-05 Funding details: Deutsche Forschungsgemeinschaft, DFG Funding details: Pharmaceutical Research and Manufacturers of America Foundation Funding details: Instituto de Salud Carlos III, ISCIII, PI13/01461 Funding details: Instituto de Salud Carlos III, ISCIII, PI10/01674 Funding details: Fundación Alicia Koplowitz Funding details: Deutsche Forschungsgemeinschaft, DFG, MU 1692/3-1 Funding details: Deutsche Forschungsgemeinschaft, DFG, MU 1692/4-1 Funding details: Deutsche Forschungsgemeinschaft, DFG, SFB 936 Funding details: Stanley Center for Psychiatric Research, Broad Institute Funding details: National Human Genome Research Institute, NHGRI Funding details: Field Neurosciences Institute, FNI Funding details: Great Ormond Street Hospital Charity, GOSH Funding details: Jacques und Gloria Gossweiler-Stiftung, JGGF Funding details: Sociedad Andaluza de Neurología, SAN Funding details: Beatrice and Samuel A. Seaver Foundation Funding details: National Heart, Lung, and Blood Institute, NHLBI, U24 HG008956 Funding details: Icahn School of Medicine at Mount Sinai, ISMMS Funding details: Consejería de Salud, Junta de Andalucía, PI-0741/2010 Funding details: Consejería de Salud, Junta de Andalucía, PI-0437-2012 Funding details: Consejería de Salud, Junta de Andalucía, PI-0471-2013 Funding details: U24MH068457 Funding details: Great Ormond Street Hospital Charity, GOSH Funding details: Hannover Rück Funding details: National Institutes of Health, NIH Funding details: National Institute for Health Research, NIHR Funding details: 2015-02424 Funding details: National Institute of Mental Health, NIMH, R01MH092516 Funding details: National Institute of Mental Health, NIMH, R01MH092289 Funding details: National Institute of Mental Health, NIMH, R01MH092290 Funding details: National Institute of Mental Health, NIMH, R01MH092520 Funding details: National Institute of Mental Health, NIMH, K08MH099424 Funding details: National Institute of Mental Health, NIMH, R01MH092292 Funding details: National Institute of Mental Health, NIMH, R01MH092293 Funding details: National Institute of Mental Health, NIMH, R01MH092291 Funding details: National Institute of Mental Health, NIMH, R01MH092513 Funding details: Tourette Association of America, TSA Funding details: Daiichi Sankyo Company Funding text 1: We wish to thank the families who have participated in and contributed to this study. We also thank the NIMH Repository and Genomics Resource ( U24MH068457 to J.A.T.) at RUCDR Infinite Biologics for transforming cell lines and providing DNA samples, Liping Wei at Peking University for her support in this project, and Sarah Pyle for graphic design. This study was supported by grants from the National Institute of Mental Health ( R01MH092290 to Lawrence W. Brown, R01MH092291 to Samuel Kuperman, R01MH092292 to Barbara J. Coffey, R01MH092293 to G.A.H. and J.A.T., R01MH092513 to Samuel H. Zinner, R01MH092516 to D.E.G., R01MH092520 to Donald L. Gilbert, R01MH092289 to M.W.S., and K08MH099424 to T.V.F.), from the Human Genetics Institute of New Jersey (to G.A.H. and J.A.T.), and the New Jersey Center for Tourette Syndrome and Associated Disorders (to G.A.H. and J.A.T.). We are also grateful to the NJCTS for facilitating the inception and organization of the TIC Genetics study. The content is solely the responsibility of the authors and does not necessarily represent the official views of the NIH. This study was also supported by the Weill Institute for Neurosciences (Startup Funding to A.J.W.) and the Overlook International Foundation (to M.W.S. and A.J.W.). The Yale Center for Mendelian Genomics ( NIH M#UM1HG006504-05 ) is funded by the National Human Genome Research Institute and the National Heart, Lung, and Blood Institute . The GSP Coordinating Center ( U24 HG008956 ) contributed to cross-program scientific initiatives and provided logistical and general study coordination. The content is solely the responsibility of the authors and does not necessarily represent the official views of the NIH. This work was additionally supported by grants from Spain (to Pablo Mir): the Instituto de Salud Carlos III ( PI10/01674 and PI13/01461 ); the Consejería de Economía, Innovación, Ciencia y Empresa de la Junta de Andalucía ( CVI-02526 and CTS-7685 ); the Consejería de Salud y Bienestar Social de la Junta de Andalucía ( PI-0741/2010 , PI-0437-2012 , and PI-0471-2013 ); the Sociedad Andaluza de Neurología ; the Fundación Alicia Koplowitz ; the Fundación Mutua Madrileña ; and the Jaques and Gloria Gossweiler Foundation , (to Astrid Morer): Alicia Koplowitz Foundation ; grants from Germany (to Astrid Morer): Deutsche Forschungsgemeinschaft (DFG) ( MU 1692/3-1 and MU 1692/4-1 and project C5 of the SFB 936 ); and grants from Sweden: the Swedish Research Council 2015-02424 (to N.D.). This research was also supported in part by an Informatics Starter Grant from the PhRMA Foundation (to Yana Bromberg), the Mindich Child Health and Developmental Institute at the Icahn School of Medicine at Mount Sinai (to D.E.G.), the Seaver Foundation (to D.E.G.), and the Stanley Center for Psychiatric Research (to D.E.G.). All research at Great Ormond Street Hospital NHS Foundation Trust and UCL Great Ormond Street Institute of Child Health is made possible by the NIHR Great Ormond Street Hospital Biomedical Research Centre . The views expressed are those of the author(s) and not necessarily those of the NHS, the NIHR, or the Department of Health. We are grateful to all of the families at the participating Simons Simplex Collection (SSC) sites, as well as the principal investigators (A. Beaudet, R. Bernier, J. Constantino, E. Cook, E. Fombonne, D. Geschwind, R. Goin-Kochel, E. Hanson, D. Grice, A. Klin, D. Ledbetter, C. Lord, C. Martin, D. Martin, R. Maxim, J. Miles, O. Ousley, K. Pelphrey, B. Peterson, J. Piggot, C. Saulnier, M. State, W. Stone, J. Sutcliffe, C. Walsh, Z. Warren, and E. Wijsman). We also appreciate obtaining access to whole-exome sequencing, microarray genotyping, and phenotype data on SFARI Base. Approved researchers can obtain the SSC population dataset described in this study by applying at https://base.sfari.org . Finally, we thank all of the individuals involved in recruitment and assessment of the subjects reported in this study: Denmark: Nikoline Frost and Heidi B. Biernat (Copenhagen); Germany: Yvonne Friedrich (Dresden), Daniela Ihlenburg-Schwarz (Hannover), and Jenny Schmalfeld (Lübeck); Spain: Fátima Carrillo, Marta Correa, Pilar Gómez-Garre, and Laura Vargas (Sevilla); the Netherlands: Vivian op de Beek (Amsterdam); Jolanda Blom, Rudi Bruggemans, and MariAnne Overdijk (Barendrecht); and Marieke Messchendorp, Thaïra Openneer, and Anne Marie Stolte (Groningen); UK: Anup Kharod (London GOSH); USA: Sarah Jacobson (Cincinnati), Angie Cookman (Iowa City), Laura Ibanez-Gomez and Zoey Shaw (Mount Sinai/NKI), Shannon Granillo and J.D. Sandhu (Seattle Children’s), and Yanran Wang (Rutgers); and to all who may not have been mentioned. Funding text 2: Conceptualization, S.W., T.V.F., G.A.H., J.A.T., P.P., A.J.W., and M.W.S.; Methodology, S.W., R.A.K., T.V.F., G.A.H., J.A.T., P.P., A.J.W., and M.W.S.; Software, S.W., J.D.M., and A.J.W.; Validation, S.W., N.S., M.T.M., J.A., C.D., D.Y., A.Y.H., G.C., J.M.S., T.V.F., J.X., and A.J.W.; Formal Analysis, S.W., J.D.M., S.D., X.Z., and A.J.W.; Investigation, S.W., J.D.M., J.M.S., T.V.F., J.X., G.A.H., J.A.T., P.P., A.J.W., and M.W.S.; Resources, R.A.K., A.D., N.K., N.D., B.M.N., G.C., C.A.M., J.M.S., TIC Genetics, TSGENESEE, TAAICG, T.V.F., J.D.B., S.D.R., D.E.G., J.X., G.A.H., J.A.T., P.P., A.J.W., and M.W.S.; Data Curation, S.W., J.D.M., D.Y., A.D., N.K., N.D., C.A.M., J.M.S., T.V.F., J.D.B., S.D.R., D.E.G., J.X., G.A.H., J.A.T., P.P., and A.J.W.; Writing – Original Draft, S.W., J.D.M., A.J.W., and M.W.S.; Writing – Review & Editing, S.W., J.D.M., Y.K., N.S., M.T.M., J.A., C.N., S.D., C.D., X.Z., Z.Y., S.S.P., D.Y., R.A.K., A.D., N.K., N.D., A.Y.H., B.M.N., G.C., C.A.M., J.M.S., TIC Genetics, TSGENESEE, TAAICG, T.V.F., J.D.B., S.D.R., D.E.G., J.X., G.A.H., J.A.T., P.P., A.J.W., and M.W.S.; Visualization, S.W. and A.J.W.; Supervision, R.A.K., T.V.F., J.D.B., S.D.R., D.E.G., J.X., G.A.H., J.A.T., P.P., A.J.W., and M.W.S.; Project Administration, B.M.N., G.C., C.A.M., J.M.S., G.A.H., J.A.T., P.P., A.J.W., and M.W.S.; Funding Acquisition, N.K., N.D., B.M.N., G.C., C.A.M., J.M.S., T.V.F., J.X., G.A.H., J.A.T., P.P., A.J.W., and M.W.S. Funding text 3: Donald L. Gilbert has received salary/travel/honoraria from the Tourette Association of America, the Child Neurology Society, U.S. National Vaccine Injury Compensation Program, Ecopipam Pharmaceuticals, EryDel Pharmaceuticals, Elsevier, and Wolters Kluwer. A.J.W. is a paid consultant for Daiichi Sankyo. 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[Kollaborációs közreműködő] 75 0.0 false false Kirsten Müller-Vahl false false true AuthorshipType 12 /api/authorshiptype/12 Kollaborációs közreműködő -11 true -11 true false true PersonAuthorship 106884575 /api/authorship/106884575 Alexander, Münchau [Kollaborációs közreműködő] 76 0.0 false false Alexander Münchau false false true AuthorshipType 12 /api/authorshiptype/12 Kollaborációs közreműködő -11 true -11 true false true PersonAuthorship 106884576 /api/authorship/106884576 Tara, L Murphy [Kollaborációs közreműködő] 77 0.0 false false Tara L Murphy false false true AuthorshipType 12 /api/authorshiptype/12 Kollaborációs közreműködő -11 true -11 true false true PersonAuthorship 106884577 /api/authorship/106884577 Cara, Nasello [Kollaborációs közreműködő] 78 0.0 false false Cara Nasello false false true AuthorshipType 12 /api/authorshiptype/12 Kollaborációs közreműködő -11 true -11 true false true PersonAuthorship 106884578 /api/authorship/106884578 Kerstin, J Plessen [Kollaborációs közreműködő] 79 0.0 false false Kerstin J Plessen false false true AuthorshipType 12 /api/authorshiptype/12 Kollaborációs közreműködő -11 true -11 true false true PersonAuthorship 106884579 /api/authorship/106884579 Hannah, Poisner [Kollaborációs közreműködő] 80 0.0 false false Hannah Poisner false false true AuthorshipType 12 /api/authorshiptype/12 Kollaborációs közreműködő -11 true -11 true false true PersonAuthorship 106884580 /api/authorship/106884580 Veit, Roessner [Kollaborációs közreműködő] 81 0.0 false false Veit Roessner false false true AuthorshipType 12 /api/authorshiptype/12 Kollaborációs közreműködő -11 true -11 true false true PersonAuthorship 106884581 /api/authorship/106884581 Stephan, J Sanders [Kollaborációs közreműködő] 82 0.0 false false Stephan J Sanders false false true AuthorshipType 12 /api/authorshiptype/12 Kollaborációs közreműködő -11 true -11 true false true PersonAuthorship 106884582 /api/authorship/106884582 Eun-Young, Shin [Kollaborációs közreműködő] 83 0.0 false false Eun-Young Shin false false true AuthorshipType 12 /api/authorshiptype/12 Kollaborációs közreműködő -11 true -11 true false true PersonAuthorship 106884583 /api/authorship/106884583 Dong-Ho, Song [Kollaborációs közreműködő] 84 0.0 false false Dong-Ho Song false false true AuthorshipType 12 /api/authorshiptype/12 Kollaborációs közreműködő -11 true -11 true false true PersonAuthorship 106884584 /api/authorship/106884584 Jungeun, Song [Kollaborációs közreműködő] 85 0.0 false false Jungeun Song false false true AuthorshipType 12 /api/authorshiptype/12 Kollaborációs közreműködő -11 true -11 true false true PersonAuthorship 106884585 /api/authorship/106884585 Matthew, W State [Kollaborációs közreműködő] 86 0.0 false false Matthew W State false false true AuthorshipType 12 /api/authorshiptype/12 Kollaborációs közreműködő -11 true -11 true false true PersonAuthorship 106884586 /api/authorship/106884586 Nawei, Sun [Kollaborációs közreműködő] 87 0.0 false false Nawei Sun false false true AuthorshipType 12 /api/authorshiptype/12 Kollaborációs közreműködő -11 true -11 true false true PersonAuthorship 106884587 /api/authorship/106884587 Joshua, K Thackray [Kollaborációs közreműködő] 88 0.0 false false Joshua K Thackray false false true AuthorshipType 12 /api/authorshiptype/12 Kollaborációs közreműködő -11 true -11 true false true PersonAuthorship 106884588 /api/authorship/106884588 Jay, A Tischfield [Kollaborációs közreműködő] 89 0.0 false false Jay A Tischfield false false true AuthorshipType 12 /api/authorshiptype/12 Kollaborációs közreműködő -11 true -11 true false true PersonAuthorship 106884589 /api/authorship/106884589 Jennifer, Tübing [Kollaborációs közreműködő] 90 0.0 false false Jennifer Tübing false false true AuthorshipType 12 /api/authorshiptype/12 Kollaborációs közreműködő -11 true -11 true false true PersonAuthorship 106884590 /api/authorship/106884590 Frank, Visscher [Kollaborációs közreműködő] 91 0.0 false false Frank Visscher false false true AuthorshipType 12 /api/authorshiptype/12 Kollaborációs közreműködő -11 true -11 true false true PersonAuthorship 106884591 /api/authorship/106884591 Sina, Wanderer [Kollaborációs közreműködő] 92 0.0 false false Sina Wanderer false false true AuthorshipType 12 /api/authorshiptype/12 Kollaborációs közreműködő -11 true -11 true false true PersonAuthorship 106884592 /api/authorship/106884592 Sheng, Wang [Kollaborációs közreműködő] 93 0.0 false false Sheng Wang false false true AuthorshipType 12 /api/authorshiptype/12 Kollaborációs közreműködő -11 true -11 true false true PersonAuthorship 106884593 /api/authorship/106884593 A, Jeremy Willsey [Kollaborációs közreműködő] 94 0.0 false false A Jeremy Willsey false false true AuthorshipType 12 /api/authorshiptype/12 Kollaborációs közreműködő -11 true -11 true false true PersonAuthorship 106884594 /api/authorship/106884594 Martin, Woods [Kollaborációs közreműködő] 95 0.0 false false Martin Woods false false true AuthorshipType 12 /api/authorshiptype/12 Kollaborációs közreműködő -11 true -11 true false true PersonAuthorship 106884595 /api/authorship/106884595 Jinchuan, Xing [Kollaborációs közreműködő] 96 0.0 false false Jinchuan Xing false false true AuthorshipType 12 /api/authorshiptype/12 Kollaborációs közreműködő -11 true -11 true false true PersonAuthorship 106884596 /api/authorship/106884596 Yeting, Zhang [Kollaborációs közreműködő] 97 0.0 false false Yeting Zhang false false true AuthorshipType 12 /api/authorshiptype/12 Kollaborációs közreműködő -11 true -11 true false true PersonAuthorship 106884597 /api/authorship/106884597 Xin, Zhao [Kollaborációs közreműködő] 98 0.0 false false Xin Zhao false false true AuthorshipType 12 /api/authorshiptype/12 Kollaborációs közreműködő -11 true -11 true false true PersonAuthorship 106884598 /api/authorship/106884598 Samuel, H Zinner [Kollaborációs közreműködő] 99 0.0 false false Samuel H Zinner false false true AuthorshipType 12 /api/authorshiptype/12 Kollaborációs közreműködő -11 true -11 true false true PersonAuthorship 106884599 /api/authorship/106884599 Christos, Androutsos [Kollaborációs közreműködő] 100 0.0 false false Christos Androutsos false false true AuthorshipType 12 /api/authorshiptype/12 Kollaborációs közreműködő -11 true -11 true false true PersonAuthorship 106884600 /api/authorship/106884600 Csaba, Barta [Barta, Csaba (pszichogenetika), Kollaborációs közreműködő] 101 0.0 false false Author 10023664 /api/author/10023664 Barta Csaba (pszichogenetika) Barta Csaba true 10023664 true Csaba Barta false false true AuthorshipType 12 /api/authorshiptype/12 Kollaborációs közreműködő -11 true -11 true false true PersonAuthorship 106884601 /api/authorship/106884601 Luca, Farkas [Kollaborációs közreműködő] 102 0.0 false false Luca Farkas false false true AuthorshipType 12 /api/authorshiptype/12 Kollaborációs közreműködő -11 true -11 true false true PersonAuthorship 106884602 /api/authorship/106884602 Jakub, Fichna [Kollaborációs közreműködő] 103 0.0 false false Jakub Fichna false false true AuthorshipType 12 /api/authorshiptype/12 Kollaborációs közreműködő -11 true -11 true false true PersonAuthorship 106884603 /api/authorship/106884603 Marianthi, Georgitsi [Kollaborációs közreműködő] 104 0.0 false false Marianthi Georgitsi false false true AuthorshipType 12 /api/authorshiptype/12 Kollaborációs közreműködő -11 true -11 true false true PersonAuthorship 106884604 /api/authorship/106884604 Piotr, Janik [Kollaborációs közreműködő] 105 0.0 false false Piotr Janik false false true AuthorshipType 12 /api/authorshiptype/12 Kollaborációs közreműködő -11 true -11 true false true PersonAuthorship 106884605 /api/authorship/106884605 Iordanis, Karagiannidis [Kollaborációs közreműködő] 106 0.0 false false Iordanis Karagiannidis false false true AuthorshipType 12 /api/authorshiptype/12 Kollaborációs közreműködő -11 true -11 true false true PersonAuthorship 106884606 /api/authorship/106884606 Anastasia, Koumoula [Kollaborációs közreműködő] 107 0.0 false false Anastasia Koumoula false false true AuthorshipType 12 /api/authorshiptype/12 Kollaborációs közreműködő -11 true -11 true false true PersonAuthorship 106884607 /api/authorship/106884607 Peter, Nagy [Nagy, Péter (gyermek- és ifjús...), Kollaborációs közreműködő] 108 0.0 false false Author 10066513 /api/author/10066513 Nagy Péter (gyermek- és ifjúságpszichiátria) Nagy Péter true true Peter Nagy false false true AuthorshipType 12 /api/authorshiptype/12 Kollaborációs közreműködő -11 true -11 true false true PersonAuthorship 106884608 /api/authorship/106884608 Peristera, Paschou [Kollaborációs közreműködő] 109 0.0 false false Peristera Paschou false false true AuthorshipType 12 /api/authorshiptype/12 Kollaborációs közreműködő -11 true -11 true false true PersonAuthorship 106884609 /api/authorship/106884609 Joanna, Puchala [Kollaborációs közreműködő] 110 0.0 false false Joanna Puchala false false true AuthorshipType 12 /api/authorshiptype/12 Kollaborációs közreműködő -11 true -11 true false true PersonAuthorship 106884610 /api/authorship/106884610 Renata, Rizzo [Kollaborációs közreműködő] 111 0.0 false false Renata Rizzo false false true AuthorshipType 12 /api/authorshiptype/12 Kollaborációs közreműködő -11 true -11 true false true PersonAuthorship 106884611 /api/authorship/106884611 Natalia, Szejko [Kollaborációs közreműködő] 112 0.0 false false Natalia Szejko false false true AuthorshipType 12 /api/authorshiptype/12 Kollaborációs közreműködő -11 true -11 true false true PersonAuthorship 106884612 /api/authorship/106884612 Urszula, Szymanska [Kollaborációs közreműködő] 113 0.0 false false Urszula Szymanska false false true AuthorshipType 12 /api/authorshiptype/12 Kollaborációs közreműködő -11 true -11 true false true PersonAuthorship 106884613 /api/authorship/106884613 Zsanett, Tarnok [Kollaborációs közreműködő] 114 0.0 false false Zsanett Tarnok false false true AuthorshipType 12 /api/authorshiptype/12 Kollaborációs közreműködő -11 true -11 true false true PersonAuthorship 106884614 /api/authorship/106884614 Vaia, Tsironi [Kollaborációs közreműködő] 115 0.0 false false Vaia Tsironi false false true AuthorshipType 12 /api/authorshiptype/12 Kollaborációs közreműködő -11 true -11 true false true PersonAuthorship 106884615 /api/authorship/106884615 Tomasz, Wolanczyk [Kollaborációs közreműködő] 116 0.0 false false Tomasz Wolanczyk false false true AuthorshipType 12 /api/authorshiptype/12 Kollaborációs közreműködő -11 true -11 true false true PersonAuthorship 106884616 /api/authorship/106884616 Cezary, Zekanowski [Kollaborációs közreműködő] 117 0.0 false false Cezary Zekanowski false false true AuthorshipType 12 /api/authorshiptype/12 Kollaborációs közreműködő -11 true -11 true false true PersonAuthorship 106884617 /api/authorship/106884617 Cathy, L Barr [Kollaborációs közreműködő] 118 0.0 false false Cathy L Barr false false true AuthorshipType 12 /api/authorshiptype/12 Kollaborációs közreműködő -11 true -11 true false true PersonAuthorship 106884618 /api/authorship/106884618 James, R Batterson [Kollaborációs közreműködő] 119 0.0 false false James R Batterson false false true AuthorshipType 12 /api/authorshiptype/12 Kollaborációs közreműködő -11 true -11 true false true PersonAuthorship 106884619 /api/authorship/106884619 Cheston, Berlin [Kollaborációs közreműködő] 120 0.0 false false Cheston Berlin false false true AuthorshipType 12 /api/authorshiptype/12 Kollaborációs közreműködő -11 true -11 true false true PersonAuthorship 106884620 /api/authorship/106884620 Ruth, D Bruun [Kollaborációs közreműködő] 121 0.0 false false Ruth D Bruun false false true AuthorshipType 12 /api/authorshiptype/12 Kollaborációs közreműködő -11 true -11 true false true PersonAuthorship 106884621 /api/authorship/106884621 Cathy, L Budman [Kollaborációs közreműködő] 122 0.0 false false Cathy L Budman false false true AuthorshipType 12 /api/authorshiptype/12 Kollaborációs közreműködő -11 true -11 true false true PersonAuthorship 106884622 /api/authorship/106884622 Danielle, C Cath [Kollaborációs közreműködő] 123 0.0 false false Danielle C Cath false false true AuthorshipType 12 /api/authorshiptype/12 Kollaborációs közreműködő -11 true -11 true false true PersonAuthorship 106884623 /api/authorship/106884623 Sylvain, Chouinard [Kollaborációs közreműködő] 124 0.0 false false Sylvain Chouinard false false true AuthorshipType 12 /api/authorshiptype/12 Kollaborációs közreműködő -11 true -11 true false true PersonAuthorship 106884624 /api/authorship/106884624 Giovanni, Coppola [Kollaborációs közreműködő] 125 0.0 false false Giovanni Coppola false false true AuthorshipType 12 /api/authorshiptype/12 Kollaborációs közreműködő -11 true -11 true false true PersonAuthorship 106884625 /api/authorship/106884625 Nancy, J Cox [Kollaborációs közreműködő] 126 0.0 false false Nancy J Cox false false true AuthorshipType 12 /api/authorshiptype/12 Kollaborációs közreműködő -11 true -11 true false true PersonAuthorship 106884626 /api/authorship/106884626 Sabrina, Darrow [Kollaborációs közreműködő] 127 0.0 false false Sabrina Darrow false false true AuthorshipType 12 /api/authorshiptype/12 Kollaborációs közreműködő -11 true -11 true false true PersonAuthorship 106884627 /api/authorship/106884627 Lea, K Davis [Kollaborációs közreműködő] 128 0.0 false false Lea K Davis false false true AuthorshipType 12 /api/authorshiptype/12 Kollaborációs közreműködő -11 true -11 true false true PersonAuthorship 106884628 /api/authorship/106884628 Yves, Dion [Kollaborációs közreműködő] 129 0.0 false false Yves Dion false false true AuthorshipType 12 /api/authorshiptype/12 Kollaborációs közreműködő -11 true -11 true false true PersonAuthorship 106884629 /api/authorship/106884629 Nelson, B Freimer [Kollaborációs közreműködő] 130 0.0 false false Nelson B Freimer false false true AuthorshipType 12 /api/authorshiptype/12 Kollaborációs közreműködő -11 true -11 true false true PersonAuthorship 106884630 /api/authorship/106884630 Marco, A Grados [Kollaborációs közreműködő] 131 0.0 false false Marco A Grados false false true AuthorshipType 12 /api/authorshiptype/12 Kollaborációs közreműködő -11 true -11 true false true PersonAuthorship 106884631 /api/authorship/106884631 Matthew, E Hirschtritt [Kollaborációs közreműködő] 132 0.0 false false Matthew E Hirschtritt false false true AuthorshipType 12 /api/authorshiptype/12 Kollaborációs közreműködő -11 true -11 true false true PersonAuthorship 106884632 /api/authorship/106884632 Alden, Y Huang [Kollaborációs közreműködő] 133 0.0 false false Alden Y Huang false false true AuthorshipType 12 /api/authorshiptype/12 Kollaborációs közreműködő -11 true -11 true false true PersonAuthorship 106884633 /api/authorship/106884633 Cornelia, Illmann [Kollaborációs közreműködő] 134 0.0 false false Cornelia Illmann false false true AuthorshipType 12 /api/authorshiptype/12 Kollaborációs közreműködő -11 true -11 true false true PersonAuthorship 106884634 /api/authorship/106884634 Robert, A King [Kollaborációs közreműködő] 135 0.0 false false Robert A King false false true AuthorshipType 12 /api/authorshiptype/12 Kollaborációs közreműködő -11 true -11 true false true PersonAuthorship 106884635 /api/authorship/106884635 Roger, Kurlan [Kollaborációs közreműködő] 136 0.0 false false Roger Kurlan false false true AuthorshipType 12 /api/authorshiptype/12 Kollaborációs közreműködő -11 true -11 true false true PersonAuthorship 106884636 /api/authorship/106884636 James, F Leckman [Kollaborációs közreműködő] 137 0.0 false false James F Leckman false false true AuthorshipType 12 /api/authorshiptype/12 Kollaborációs közreműködő -11 true -11 true false true PersonAuthorship 106884637 /api/authorship/106884637 Gholson, J Lyon [Kollaborációs közreműködő] 138 0.0 false false Gholson J Lyon false false true AuthorshipType 12 /api/authorshiptype/12 Kollaborációs közreműködő -11 true -11 true false true PersonAuthorship 106884638 /api/authorship/106884638 Irene, A Malaty [Kollaborációs közreműködő] 139 0.0 false false Irene A Malaty false false true AuthorshipType 12 /api/authorshiptype/12 Kollaborációs közreműködő -11 true -11 true false true PersonAuthorship 106884639 /api/authorship/106884639 Carol, A Mathews [Kollaborációs közreműködő] 140 0.0 false false Carol A Mathews false false true AuthorshipType 12 /api/authorshiptype/12 Kollaborációs közreműködő -11 true -11 true false true PersonAuthorship 106884640 /api/authorship/106884640 William, M MacMahon [Kollaborációs közreműködő] 141 0.0 false false William M MacMahon false false true AuthorshipType 12 /api/authorshiptype/12 Kollaborációs közreműködő -11 true -11 true false true PersonAuthorship 106884641 /api/authorship/106884641 Benjamin, M Neale [Kollaborációs közreműködő] 142 0.0 false false Benjamin M Neale false false true AuthorshipType 12 /api/authorshiptype/12 Kollaborációs közreműködő -11 true -11 true false true PersonAuthorship 106884642 /api/authorship/106884642 Michael, S Okun [Kollaborációs közreműködő] 143 0.0 false false Michael S Okun false false true AuthorshipType 12 /api/authorshiptype/12 Kollaborációs közreműködő -11 true -11 true false true PersonAuthorship 106884643 /api/authorship/106884643 Lisa, Osiecki [Kollaborációs közreműködő] 144 0.0 false false Lisa Osiecki false false true AuthorshipType 12 /api/authorshiptype/12 Kollaborációs közreműködő -11 true -11 true false true PersonAuthorship 106884644 /api/authorship/106884644 David, L Pauls [Kollaborációs közreműködő] 145 0.0 false false David L Pauls false false true AuthorshipType 12 /api/authorshiptype/12 Kollaborációs közreműködő -11 true -11 true false true PersonAuthorship 106884645 /api/authorship/106884645 Danielle, Posthuma [Kollaborációs közreműködő] 146 0.0 false false Danielle Posthuma false false true AuthorshipType 12 /api/authorshiptype/12 Kollaborációs közreműködő -11 true -11 true false true PersonAuthorship 106884646 /api/authorship/106884646 Vasily, Ramensky [Kollaborációs közreműködő] 147 0.0 false false Vasily Ramensky false false true AuthorshipType 12 /api/authorshiptype/12 Kollaborációs közreműködő -11 true -11 true false true PersonAuthorship 106884647 /api/authorship/106884647 Mary, M Robertson [Kollaborációs közreműködő] 148 0.0 false false Mary M Robertson false false true AuthorshipType 12 /api/authorshiptype/12 Kollaborációs közreműködő -11 true -11 true false true PersonAuthorship 106884648 /api/authorship/106884648 Guy, A Rouleau [Kollaborációs közreműködő] 149 0.0 false false Guy A Rouleau false false true AuthorshipType 12 /api/authorshiptype/12 Kollaborációs közreműködő -11 true -11 true false true PersonAuthorship 106884649 /api/authorship/106884649 Paul, Sandor [Kollaborációs közreműködő] 150 0.0 false false Paul Sandor false false true AuthorshipType 12 /api/authorshiptype/12 Kollaborációs közreműködő -11 true -11 true false true PersonAuthorship 106884650 /api/authorship/106884650 Jeremiah, M Scharf [Kollaborációs közreműködő] 151 0.0 false false Jeremiah M Scharf false false true AuthorshipType 12 /api/authorshiptype/12 Kollaborációs közreműködő -11 true -11 true false true PersonAuthorship 106884651 /api/authorship/106884651 Harvey, S Singer [Kollaborációs közreműködő] 152 0.0 false false Harvey S Singer false false true AuthorshipType 12 /api/authorshiptype/12 Kollaborációs közreműködő -11 true -11 true false true PersonAuthorship 106884652 /api/authorship/106884652 Jan, Smit [Kollaborációs közreműködő] 153 0.0 false false Jan Smit false false true AuthorshipType 12 /api/authorshiptype/12 Kollaborációs közreműködő -11 true -11 true false true PersonAuthorship 106884653 /api/authorship/106884653 Jae-Hoon, Sul [Kollaborációs közreműködő] 154 0.0 false false Jae-Hoon Sul false false true AuthorshipType 12 /api/authorshiptype/12 Kollaborációs közreműködő -11 true -11 true false true PersonAuthorship 106884654 /api/authorship/106884654 Dongmei, Yu [Kollaborációs közreműködő] 155 0.0 false false Dongmei Yu false false true AuthorshipType 12 /api/authorshiptype/12 Kollaborációs közreműködő -11 true -11 true false true PublicationIdentifier 14644813 /api/publicationidentifier/14644813 DOI: 10.1016/j.celrep.2018.08.082 PlainSource 6 /api/publicationsource/6 DOI PublicationSourceType 10001 /api/publicationsourcetype/10001 DOI true true true DOI DOI https://doi.org/@@@ true true 6 true GOLD true IDENTICAL 10.1016/j.celrep.2018.08.082 https://doi.org/10.1016/j.celrep.2018.08.082 false true PublicationIdentifier 15374618 /api/publicationidentifier/15374618 WoS: 000445524700009 PlainSource 1 /api/publicationsource/1 WoS PublicationSourceType 10003 /api/publicationsourcetype/10003 Indexelő adatbázis false true true WoS WoS https://www.webofscience.com/wos/woscc/full-record/@@@ true true 1 true IDENTICAL 000445524700009 https://www.webofscience.com/wos/woscc/full-record/000445524700009 false true PublicationIdentifier 14644812 /api/publicationidentifier/14644812 Scopus: 85053405532 PlainSource 3 /api/publicationsource/3 Scopus PublicationSourceType 10003 /api/publicationsourcetype/10003 Indexelő adatbázis false true true Scopus Scopus http://www.scopus.com/record/display.url?origin=inward&eid=2-s2.0-@@@ true true 3 true IDENTICAL 85053405532 http://www.scopus.com/record/display.url?origin=inward&eid=2-s2.0-85053405532 false true PublicationIdentifier 15501409 /api/publicationidentifier/15501409 PubMed: 30257206 PlainSource 17 /api/publicationsource/17 PubMed PublicationSourceType 10003 /api/publicationsourcetype/10003 Indexelő adatbázis false true true PubMed PubMed http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=@@@&dopt=Abstract true true 17 true IDENTICAL 30257206 http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=30257206&dopt=Abstract false true Keyword 52 /api/keyword/52 Adult true 52 true Keyword 56 /api/keyword/56 Female true 56 true Keyword 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De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis. (2018) CELL REPORTS 2639-1856 2211-1247 24 13 3441-3454.e12<div class="JournalArticle Publication long-list"> <div class="authors"> <img title="Forrásközlemény" style="float: left" src="/frontend/resources/grid/publication-core-icon.png"> <img title="Idézőközlemény" style="float: left" src="/frontend/resources/grid/publication-citation-icon.png"> <div class="autype autype0"> <span class="author-name" >Wang S. </span> ;    et al. (35) </div> <div class="autype autype-11"> Kollaborációs közreműködő: <span class="author-name" >Mohamed Abdulkadir </span> ;    <span class="author-name" mtid="10023664"><a href="/gui2/?type=authors&mode=browse&sel=10023664" target="_blank">Csaba Barta (<span class="authorship-author-name">Barta Csaba</span> <span class="authorAux-mtmt"> pszichogenetika</span>) </a> </span> ;    <span class="author-name" mtid="10066513"><a href="/gui2/?type=authors&mode=browse&sel=10066513" target="_blank">Peter Nagy (<span class="authorship-author-name">Nagy Péter</span> <span class="authorAux-mtmt"> gyermek- és ifjúságpszichiátria</span>) </a> </span> ;    et al. (120) </div> <div><a target="_blank" href="/api/publication/30340629?labelLang=hun">Összes szerző</a></div> </div> <div class="title"><a href="/gui2/?mode=browse&params=publication;30340629" target="_blank">De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis</a></div> <div> <span class="journal-title">CELL REPORTS</span> <span class="journal-issn">(<a target="_blank" href="https://portal.issn.org/resource/ISSN/2639-1856">2639-1856</a> <a target="_blank" href="https://portal.issn.org/resource/ISSN/2211-1247">2211-1247</a>)</span>: <span class="journal-volume">24</span> <span class="journal-issue">13</span> <span class="page"> pp 3441-3454.e12 </span> <span class="year">(2018)</span> </div> <div class="pub-footer"> <span class="language" xmlns="http://www.w3.org/1999/html">Nyelv: Angol | </span> <span class="identifiers"> <span class="id identifier oa_GOLD" title=" Gold "> <a style="color:blue" title="10.1016/j.celrep.2018.08.082" target="_blank" href="https://doi.org/10.1016/j.celrep.2018.08.082"> DOI </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="000445524700009" target="_blank" href="https://www.webofscience.com/wos/woscc/full-record/000445524700009"> WoS </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="85053405532" target="_blank" href="http://www.scopus.com/record/display.url?origin=inward&eid=2-s2.0-85053405532"> Scopus </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="30257206" target="_blank" href="http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=30257206&dopt=Abstract"> PubMed </a> </span> </span> <OnlyViewableByAuthor><div class="ratings"> <div class="journal-subject">Folyóirat szakterülete: Scopus - Biochemistry, Genetics and Molecular Biology (miscellaneous)   SJR indikátor: D1</div> </div></OnlyViewableByAuthor> <div class="publication-citation" style="margin-left: 0.5cm;"> <span title="Nyilvános idézőközlemények összesen, említések nélkül" class="citingPub-count">Nyilvános idéző összesen: 92</span> | Független: 57 | Függő: 35 | Nem jelölt: 0 | WoS jelölt: 78 | Scopus jelölt: 87 | WoS/Scopus jelölt: 92 | DOI jelölt: 91 </div> <div class="publication-citation"> <a target="_blank" href="/api/publication?cond=citations.related;eq;30340629&sort=publishedYear,desc&sort=title"> Idézett közlemények száma: 2 </a> </div> <div class="mtid"><span class="long-pub-mtid">Közlemény: 30340629</span> | <span class="status-data status-APPROVED"> Nyilvános </span> Forrás Idéző | <span class="type-subtype">Folyóiratcikk ( Sokszerzős vagy csoportos szerzőségű szakcikk ) </span> | <span class="pub-category">Tudományos</span> | <span class="publication-sourceOfData">Scopus (scopus.ris, 2018-12-07)</span> </div> <div class="lastModified">Utolsó módosítás: 2024.08.26. 16:50 Nagy Péter (gyermek- és ifjúságpszichiátria) </div> <pre class="comment" style="margin-top: 0; margin-bottom: 0;"><u>Megjegyzés</u>: College 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, United States Institute for Neurodegenerative Diseases, UCSF Weill Institute for Neurosciences, University of California, San Fra...</pre> </div></div> JournalArticle 3249806 APPROVED true Export Date: 23 April 2026; Cited By: 139; CODEN: NERNE; 0 2018-08-21T22:21:28.000+0000 false 3249806 2026-07-08T11:32:51.672+0000 2026-04-23T08:09:35.484+0000 2017-07-18T11:37:39.000+0000 true 10023664 Barta Csaba /api/author/10023664 Author Barta Csaba (pszichogenetika) true 10023664 2026-04-23T08:09:35.337+0000 true false true 24 24 /api/publicationtype/24 PublicationType Folyóiratcikk 1 true 24 JournalArticle true 10000359 Study Group true 24 24 /api/publicationtype/24 PublicationType Folyóiratcikk 1 true 24 JournalArticle /api/subtype/10000359 Sokszerzős vagy csoportos szerzőségű szakcikk SubType Sokszerzős vagy csoportos szerzőségű szakcikk (Folyóiratcikk) 104 true 10000359 true 1 /api/category/1 Category Tudományos true 1 Huang, AY Rare Copy Number Variants in NRXN1 and CNTN6 Increase Risk for Tourette Syndrome true true /api/journal/3357 REVIEWED NEURON 0896-6273 1097-4199 true false 3357 false 3357 true 0896-6273 1097-4199 Journal FOREIGN 94 6 1101 1111.e.7 1101 18 2017 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 x 10-3) and known, pathogenic CNVs (OR = 3.03 [1.85-5.07], p = 1.5 x 10-5). We also identified two individual, genome-wide significant loci, each conferring a substantial increase in TS risk (NRXN1 deletions, OR = 20.3, 95% CI [2.6-156.2]; CNTN6 duplications, OR = 10.1, 95% CI [2.3-45.4]). Approximately 1% of TS cases carry one of these CNVs, indicating that rare structural variation contributes significantly to the genetic architecture of TS. 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Rare Copy Number Variants in NRXN1 and CNTN6 Increase Risk for Tourette Syndrome. (2017) NEURON 0896-6273 1097-4199 94 6 1101-1111.e.7<div class="JournalArticle Publication long-list"> <div class="authors"> <img title="Forrásközlemény" style="float: left" src="/frontend/resources/grid/publication-core-icon.png"> <img title="Idézőközlemény" style="float: left" src="/frontend/resources/grid/publication-citation-icon.png"> <div class="autype autype0"> <span class="author-name" >Huang AY </span> ;    <span class="author-name" mtid="10023664"><a href="/gui2/?type=authors&mode=browse&sel=10023664" target="_blank">Barta C (<span class="authorship-author-name">Barta Csaba</span> <span class="authorAux-mtmt"> pszichogenetika</span>) </a> </span> <span class="author-affil"><span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Intézet">I</span>/Orvosi Vegytani, Molekuláris Biológiai és Patobiokémiai Intézet</span> ;    <span class="author-name" mtid="10064577"><a href="/gui2/?type=authors&mode=browse&sel=10064577" target="_blank">Tarnok Z (<span class="authorship-author-name">Tárnok Zsanett</span> <span class="authorAux-mtmt"> Gyermek- és Ifjúságpszichológia</span>) </a> </span> ;    <span class="author-name" mtid="10066513"><a href="/gui2/?type=authors&mode=browse&sel=10066513" target="_blank">Nagy P (<span class="authorship-author-name">Nagy Péter</span> <span class="authorAux-mtmt"> gyermek- és ifjúságpszichiátria</span>) </a> </span> ;    et al. (57) </div> <div class="autype autype-29"> Kollaborációs szervezet: <span class="author-affil">Tourette Syndrome Association International Consortium for Genetics (TSAICG)</span> ;    <span class="author-affil">Gilles de la Tourette Syndrome GWAS Replication Initiative (GGRI)</span> </div> <div><a target="_blank" href="/api/publication/3249806?labelLang=hun">Összes szerző</a></div> </div> <div class="title"><a href="/gui2/?mode=browse&params=publication;3249806" target="_blank">Rare Copy Number Variants in NRXN1 and CNTN6 Increase Risk for Tourette Syndrome</a></div> <div> <span class="journal-title">NEURON</span> <span class="journal-issn">(<a target="_blank" href="https://portal.issn.org/resource/ISSN/0896-6273">0896-6273</a> <a target="_blank" href="https://portal.issn.org/resource/ISSN/1097-4199">1097-4199</a>)</span>: <span class="journal-volume">94</span> <span class="journal-issue">6</span> <span class="page"> pp 1101-1111.e.7 </span> <span class="year">(2017)</span> </div> <div class="pub-footer"> <span class="language" xmlns="http://www.w3.org/1999/html">Nyelv: Angol | </span> <span class="identifiers"> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="10.1016/j.neuron.2017.06.010" target="_blank" href="https://doi.org/10.1016/j.neuron.2017.06.010"> DOI </a> </span> <span class="id identifier oa_RESTRICTED" title=" Korlátozott "> <a style="color:blue" title="6793" target="_blank" href="https://repo.lib.semmelweis.hu/handle/123456789/6793"> SE Repozitórium </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="000403820200009" target="_blank" href="https://www.webofscience.com/wos/woscc/full-record/000403820200009"> WoS </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="85027263762" target="_blank" href="http://www.scopus.com/record/display.url?origin=inward&eid=2-s2.0-85027263762"> Scopus </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="28641109" target="_blank" href="http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=28641109&dopt=Abstract"> PubMed </a> </span> <span class="id identifier oa_NONE" title=" Nincs "> <a style="color:blue" title="https://www.scopus.com/pages/publications/85027263762?origin=resultslist" target="_blank" href="https://www.scopus.com/pages/publications/85027263762?origin=resultslist"> Egyéb URL </a> </span> </span> <OnlyViewableByAuthor><div class="ratings"> <div class="journal-subject">Folyóirat szakterülete: Scopus - Neuroscience (miscellaneous)   SJR indikátor: D1</div> </div></OnlyViewableByAuthor> <div class="publication-citation" style="margin-left: 0.5cm;"> <span title="Nyilvános idézőközlemények összesen, említések nélkül" class="citingPub-count">Nyilvános idéző összesen: 148</span> | Független: 113 | Függő: 35 | Nem jelölt: 0 | WoS jelölt: 129 | Scopus jelölt: 146 | WoS/Scopus jelölt: 148 | DOI jelölt: 148 </div> <div class="publication-citation"> <a target="_blank" href="/api/publication?cond=citations.related;eq;3249806&sort=publishedYear,desc&sort=title"> Idézett közlemények száma: 1 </a> </div> <div class="mtid"><span class="long-pub-mtid">Közlemény: 3249806</span> | <span class="status-data status-APPROVED"> Nyilvános </span> <span class="oldId">Régi azonosító: 3249806</span> | Forrás Idéző | <span class="type-subtype">Folyóiratcikk ( Sokszerzős vagy csoportos szerzőségű szakcikk ) </span> | <span class="pub-category">Tudományos</span> | <span class="publication-sourceOfData">MEDLINE</span> </div> <div class="lastModified">Utolsó módosítás: 2026.04.23. 10:09 Sonnevend Kinga (SE_AOK_OrvVegytan_Admin5_SK, admin) </div> <pre class="comment" style="margin-top: 0; margin-bottom: 0;"><u>Megjegyzés</u>: Export Date: 23 April 2026; Cited By: 139; CODEN: NERNE;</pre> </div></div> JournalArticle 3185080 APPROVED true Department of Molecular Biology and Genetics, Democritus University of Thrace, Alexandroupoli, Greece Department of Genetics, Rutgers, The State University of New Jersey, Piscataway, NJ, United States Human Genetics Institute of New Jersey, Rutgers, The State University of New Jersey, Piscataway, NJ, United States Computer Science Department, Purdue University, West Lafayette, IN, United States Vadaskert Clinic for Child and Adolescent Psychiatry, Budapest, Hungary Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy Department of Child Psychiatry, Medical University of Warsaw, Warsaw, Poland Child and Adolescent Psychiatry Clinic, Sismanoglio General Hospital of Attica, Athens, Greece Molecular Biology and Pathobiochemistry, Institute of Medical Chemistry, Semmelweis University, Budapest, Hungary Tourette Syndrome Genetics, Southern and Eastern Europe Initiative (TSGeneSEE Consortium)ON, Canada Department of Psychiatry, University of Toronto, Toronto, ON, Canada Genetics and Development Division, Krembil Research Institute, University Health Network, Toronto, ON, Canada Program in Neurosciences and Mental Health, The Hospital for Sick Children, Toronto, ON, Canada Laboratory of General Biology, Department of Medicine, Aristotle University of Thessaloniki, Thessaloniki, Greece Cited By :15 Export Date: 23 August 2022 Correspondence Address: Heiman, G.A.; Department of Genetics, United States; email: heiman@dls.rutgers.edu Chemicals/CAS: citalopram, 59729-33-8 Funding details: MS40024-01 Funding details: National Institute of Mental Health, NIMH, R01MH092293, U24MH068457 Funding details: Seventh Framework Programme, FP7, 316978 Funding details: European Cooperation in Science and Technology, COST, FP7-PEOPLE-2012-ITN Funding details: Semmelweis Egyetem Funding details: Ontario Mental Health Foundation, OMHF Funding details: Magyar Tudományos Akadémia, MTA, BO/00987/16/5 Funding text 1: We are indebted to the TS individuals and their families for accepting to participate in the studies of the genetic basis of TS. This study was made possible thanks to the collaborative efforts of Tourette Syndrome Genetics-Southern and Eastern Europe Initiative (TSGeneSEE) and COST Action BM905: European Network for the Study of GTS (EUNETGTS). This project was financed by FP7-PEOPLE-2012-ITN, project: TS-EUROTRAIN, grant number 316978, and grants from the National Institute of Mental Health [R01MH092293; U24MH068457] and the Human Genetics Institute of New Jersey. The collection of Canadian families for this study was supported by grants from The Tourette Syndrome Association of America, N.I.H. grant MS40024-01, the Ontario Mental Health Foundation, and The Tourette Syndrome Foundation of Canada. CB was supported by the Merit-prize scholarship of Semmelweis University and the János Bolyai Research Scholarship of the Hungarian Academy of Sciences BO/00987/16/5. 0 2018-06-22T11:07:10.000+0000 false 3185080 2026-07-08T12:39:25.437+0000 2026-07-08T12:34:58.897+0000 2017-02-15T11:54:12.000+0000 true 10023664 Barta Csaba /api/author/10023664 Author Barta Csaba (pszichogenetika) true 10023664 2026-07-08T12:34:58.507+0000 true false true 24 24 /api/publicationtype/24 PublicationType Folyóiratcikk 1 true 24 JournalArticle true 10000059 Article true 24 24 /api/publicationtype/24 PublicationType Folyóiratcikk 1 true 24 JournalArticle /api/subtype/10000059 Szakcikk SubType Szakcikk (Folyóiratcikk) 101 true 10000059 true 1 /api/category/1 Category Tudományos true 1 Alexander, J Targeted Re-Sequencing Approach of Candidate Genes Implicates Rare Potentially Functional Variants in Tourette Syndrome Etiology true true /api/journal/39990 REVIEWED FRONTIERS IN NEUROSCIENCE 1662-4548 1662-453X true false 39990 false 39990 true 1662-4548 1662-453X Journal FOREIGN 10 428 428 7 2016 Although the genetic basis of Tourette Syndrome (TS) remains unclear, several candidate genes have been implicated. Using a set of 382 TS individuals of European ancestry we investigated four candidate genes for TS (HDC, SLITRK1, BTBD9, and SLC6A4) in an effort to identify possibly causal variants using a targeted re-sequencing approach by next generation sequencing technology. Identification of possible disease causing variants under different modes of inheritance was performed using the algorithms implemented in VAAST. We prioritized variants using Variant ranker and validated five rare variants via Sanger sequencing in HDC and SLITRK1, all of which are predicted to be deleterious. Intriguingly, one of the identified variants is in linkage disequilibrium with a variant that is included among the top hits of a genome-wide association study for response to citalopram treatment, an antidepressant drug with off-label use also in obsessive compulsive disorder. Our findings provide additional evidence for the implication of these two genes in TS susceptibility and the possible role of these proteins in the pathobiology of TS should be revisited. 2017 955793 true true true false true false GOLD 2026-07-08 true https://doi.org/10.3389/fnins.2016.00428 true 10026589 Tichy Rita /api/admin/10026589 Admin Tichy Rita (SE_KK_Admin5_TR, admin) true 10026589 20 0 20 15 2 20 20 19 20 20 20 15 15 15 5 0 20 15 20 15 0 2 2 Q1 false false false false 2018-06-22T11:07:10.000+0000 2017-02-15T11:55:56.000+0000 Magyarországi Református Egyház Bethesda Gyerme...; Orvosi Vegytani, Molekuláris Biológiai és Patob... 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Neuroscience (miscellaneous) FRONTIERS IN NEUROSCIENCE 1662-4548 1662-453X 33 0.24 journal RatingType 10002 /api/ratingtype/10002 sjr sjr true true ClassificationExternal 2801 /api/classificationexternal/2801 Scopus - Neuroscience (miscellaneous) true 2801 true Q1 DIRECT true true /api/publication/3185080 Alexander J et al. Targeted Re-Sequencing Approach of Candidate Genes Implicates Rare Potentially Functional Variants in Tourette Syndrome Etiology. (2016) FRONTIERS IN NEUROSCIENCE 1662-4548 1662-453X 10<div class="JournalArticle Publication long-list"> <div class="authors"> <img title="Forrásközlemény" style="float: left" src="/frontend/resources/grid/publication-core-icon.png"> <img title="Idézőközlemény" style="float: left" src="/frontend/resources/grid/publication-citation-icon.png"> <div class="autype autype0"> <span class="author-name" >Alexander J </span> ;    <span class="author-name" >Potamianou H<sup>*</sup> </span> ;    <span class="author-name" >Xing JC </span> ;    <span class="author-name" >Deng L </span> ;    <span class="author-name" >Karagiannidis I </span> ;    <span class="author-name" >Tsetsos F </span> ;    <span class="author-name" >Drineas P </span> ;    <span class="author-name" mtid="10064577"><a href="/gui2/?type=authors&mode=browse&sel=10064577" target="_blank">Tarnok Z (<span class="authorship-author-name">Tárnok Zsanett</span> <span class="authorAux-mtmt"> Gyermek- és Ifjúságpszichológia</span>) </a> </span> ;    <span class="author-name" >Rizzo R </span> ;    <span class="author-name" >Wolanczyk T </span> ;    <span class="author-name" >Farkas L </span> ;    <span class="author-name" mtid="10066513"><a href="/gui2/?type=authors&mode=browse&sel=10066513" target="_blank">Nagy P (<span class="authorship-author-name">Nagy Péter</span> <span class="authorAux-mtmt"> gyermek- és ifjúságpszichiátria</span>) </a> </span> <span class="author-affil">Magyarországi Református Egyház Bethesda Gyermekkórháza</span> ;    <span class="author-name" >Szymanska U </span> ;    <span class="author-name" >Androutsos C </span> ;    <span class="author-name" >Tsironi V </span> ;    <span class="author-name" >Koumoulas A </span> ;    <span class="author-name" mtid="10023664"><a href="/gui2/?type=authors&mode=browse&sel=10023664" target="_blank">Barta C (<span class="authorship-author-name">Barta Csaba</span> <span class="authorAux-mtmt"> pszichogenetika</span>) </a> </span> <span class="author-affil"><span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Intézet">I</span>/Orvosi Vegytani, Molekuláris Biológiai és Patobiokémiai Intézet</span> ;    <span class="author-name" >Sandor P </span> ;    <span class="author-name" >Barr CL </span> ;    <span class="author-name" >Tischfield J </span> ;    <span class="author-name" >Paschou P </span> ;    <span class="author-name" >Heiman GA ✉ </span> ;    <span class="author-name" >Georgitsi M ✉ </span> </div> </div> <div class="title"><a href="/gui2/?mode=browse&params=publication;3185080" target="_blank">Targeted Re-Sequencing Approach of Candidate Genes Implicates Rare Potentially Functional Variants in Tourette Syndrome Etiology</a></div> <div> <span class="journal-title">FRONTIERS IN NEUROSCIENCE</span> <span class="journal-issn">(<a target="_blank" href="https://portal.issn.org/resource/ISSN/1662-4548">1662-4548</a> <a target="_blank" href="https://portal.issn.org/resource/ISSN/1662-453X">1662-453X</a>)</span>: <span class="journal-volume">10</span> <span class="page"> Paper 428. 7 p. </span> <span class="year">(2016)</span> </div> <div class="pub-footer"> <span class="language" xmlns="http://www.w3.org/1999/html">Nyelv: Angol | </span> <span class="identifiers"> <span class="id identifier oa_GOLD" title=" Gold "> <a style="color:blue" title="10.3389/fnins.2016.00428" target="_blank" href="https://doi.org/10.3389/fnins.2016.00428"> DOI </a> </span> <span class="id identifier oa_GREEN" title=" Green "> <a style="color:blue" title="4848" target="_blank" href="https://repo.lib.semmelweis.hu/handle/123456789/4848"> SE Repozitórium </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="000383764300001" target="_blank" href="https://www.webofscience.com/wos/woscc/full-record/000383764300001"> WoS </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="84992016847" target="_blank" href="http://www.scopus.com/record/display.url?origin=inward&eid=2-s2.0-84992016847"> Scopus </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="27708560" target="_blank" href="http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=27708560&dopt=Abstract"> PubMed </a> </span> </span> <OnlyViewableByAuthor><div class="ratings"> <div class="journal-subject">Folyóirat szakterülete: Scopus - Neuroscience (miscellaneous)   SJR indikátor: Q1</div> </div></OnlyViewableByAuthor> <div class="publication-citation" style="margin-left: 0.5cm;"> <span title="Nyilvános idézőközlemények összesen, említések nélkül" class="citingPub-count">Nyilvános idéző összesen: 20</span> | Független: 15 | Függő: 5 | Nem jelölt: 0 | WoS jelölt: 19 | Scopus jelölt: 20 | WoS/Scopus jelölt: 20 | DOI jelölt: 20 </div> <div class="publication-citation"> <a target="_blank" href="/api/publication?cond=citations.related;eq;3185080&sort=publishedYear,desc&sort=title"> Idézett közlemények száma: 2 </a> </div> <div class="mtid"><span class="long-pub-mtid">Közlemény: 3185080</span> | <span class="status-data status-APPROVED"> Nyilvános </span> <span class="oldId">Régi azonosító: 3185080</span> | Forrás Idéző | <span class="type-subtype">Folyóiratcikk ( Szakcikk ) </span> | <span class="pub-category">Tudományos</span> | <span class="publication-sourceOfData">WOS</span> </div> <div class="lastModified">Utolsó módosítás: 2026.07.08. 14:34 Sonnevend Kinga (SE_AOK_OrvVegytan_Admin5_SK, admin) </div> <pre class="comment" style="margin-top: 0; margin-bottom: 0;"><u>Megjegyzés</u>: Department of Molecular Biology and Genetics, Democritus University of Thrace, Alexandroupoli, Greece Department of Genetics, Rutgers, The State University of New Jersey, Piscataway, NJ, United States Human Genetics Institute of New Jersey, Rutgers, The State University of New Jersey, Piscataway, NJ, United States Computer ...</pre> </div></div>