https://m2.mtmt.hu/ eng 2026-08-10 01:01 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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http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=30818990&dopt=Abstract false true SjrRating 10883496 /api/sjrrating/10883496 6 0.1 journal RatingType 10002 /api/ratingtype/10002 sjr true true ClassificationExternal 2738 /api/classificationexternal/2738 true 2738 true D1 DIRECT true true /api/publication/30547689 <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> ;&nbsp;&nbsp;&nbsp; <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 University">SU</span>/<span title="Faculty of Medicine">FM</span>/<span title="Instituties">I</span>/Department of Medical Chemistry, Molecular Biology and Pathobiochemistry</span> ;&nbsp;&nbsp;&nbsp; <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> ;&nbsp;&nbsp;&nbsp; et al. (82) </div> <div class="autype autype-29"> Collaborative Organization: <span class="author-affil">Tourette Association of America International Consortium for Genetics</span> ;&nbsp;&nbsp;&nbsp; <span class="author-affil">Gilles de la Tourette GWAS Replication Initiative</span> ;&nbsp;&nbsp;&nbsp; <span class="author-affil">Tourette International Collaborative Genetics Study</span> ;&nbsp;&nbsp;&nbsp; <span class="author-affil">Psychiatric Genomics Consortium Tourette Syndrome Working Group</span> </div> <div><a target="_blank" href="/api/publication/30547689?labelLang=eng">All authors</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">Language: English | </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=" Restricted "> <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">Journal subject: Scopus - Psychiatry and Mental Health&nbsp;&nbsp;&nbsp;Rank:&nbsp;D1</div> </div></OnlyViewableByAuthor> <div class="publication-citation" style="margin-left: 0.5cm;"> <span title="" class="citingPub-count">Citing papers: 298</span> | Independent citation: 237 | Self citation: 61 | Unknown citation: 0 | Number of citations in WoS: 274 | Number of citations in Scopus:&nbsp;294 | WoS/Scopus assigned:&nbsp;298 | Number of citations with DOI:&nbsp;296 </div> <div class="publication-citation"> <a target="_blank" href="/api/publication?cond=citations.related;eq;30547689&sort=publishedYear,desc&sort=title"> Number of cited publications: 6 </a> </div> <div class="mtid"><span class="long-pub-mtid">Publication: 30547689</span> | <span class="status-data status-APPROVED"> Published </span> Core Citing | <span class="type-subtype">Journal Article ( Study Group ) </span> | <span class="pub-category">Scientific</span> | <span class="publication-sourceOfData">kézi felvitel</span> </div> <div class="lastModified">Last Modified: 2025.01.15. 12:02 Dóra Cserteg (Bethesda 4 admin) </div> <pre class="comment" style="margin-top: 0; margin-bottom: 0;"><u>Comments</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. 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/api/publication/30340629 <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> ;&nbsp;&nbsp;&nbsp; et al. (35) </div> <div class="autype autype-11"> Collaborator: <span class="author-name" >Mohamed Abdulkadir </span> ;&nbsp;&nbsp;&nbsp; <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> ;&nbsp;&nbsp;&nbsp; <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> ;&nbsp;&nbsp;&nbsp; et al. (120) </div> <div><a target="_blank" href="/api/publication/30340629?labelLang=eng">All authors</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">Language: English | </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">Journal subject: Scopus - Biochemistry, Genetics and Molecular Biology (miscellaneous)&nbsp;&nbsp;&nbsp;Rank:&nbsp;D1</div> </div></OnlyViewableByAuthor> <div class="publication-citation" style="margin-left: 0.5cm;"> <span title="" class="citingPub-count">Citing papers: 92</span> | Independent citation: 57 | Self citation: 35 | Unknown citation: 0 | Number of citations in WoS: 78 | Number of citations in Scopus:&nbsp;87 | WoS/Scopus assigned:&nbsp;92 | Number of citations with DOI:&nbsp;91 </div> <div class="publication-citation"> <a target="_blank" href="/api/publication?cond=citations.related;eq;30340629&sort=publishedYear,desc&sort=title"> Number of cited publications: 2 </a> </div> <div class="mtid"><span class="long-pub-mtid">Publication: 30340629</span> | <span class="status-data status-APPROVED"> Published </span> Core Citing | <span class="type-subtype">Journal Article ( Study Group ) </span> | <span class="pub-category">Scientific</span> | <span class="publication-sourceOfData">Scopus (scopus.ris, 2018-12-07)</span> </div> <div class="lastModified">Last Modified: 2024.08.26. 16:50 Péter Nagy (gyermek- és ifjúságpszichiátria) </div> <pre class="comment" style="margin-top: 0; margin-bottom: 0;"><u>Comments</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 2026-07-29T09:19:27.562+0000 2026-04-23T08:09:35.484+0000 2017-07-18T11:37:39.000+0000 true 10023664 Barta Csaba /api/author/10023664 Author true 10023664 2026-04-23T08:09:35.337+0000 true false true 24 24 /api/publicationtype/24 PublicationType 1 true 24 JournalArticle true 10000359 Study Group true 24 24 /api/publicationtype/24 PublicationType 1 true 24 JournalArticle /api/subtype/10000359 Sokszerzős vagy csoportos szerzőségű szakcikk SubType 104 true 10000359 true 1 /api/category/1 Category true 1 Huang, AY Rare Copy Number Variants in NRXN1 and CNTN6 Increase Risk for Tourette Syndrome true true /api/journal/3357 REVIEWED 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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Medicine">FM</span>/<span title="Instituties">I</span>/Department of Medical Chemistry, Molecular Biology and Pathobiochemistry</span> ;&nbsp;&nbsp;&nbsp; <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> ;&nbsp;&nbsp;&nbsp; <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> ;&nbsp;&nbsp;&nbsp; et al. (57) </div> <div class="autype autype-29"> Collaborative Organization: <span class="author-affil">Tourette Syndrome Association International Consortium for Genetics (TSAICG)</span> ;&nbsp;&nbsp;&nbsp; <span class="author-affil">Gilles de la Tourette Syndrome GWAS Replication Initiative (GGRI)</span> </div> <div><a target="_blank" href="/api/publication/3249806?labelLang=eng">All authors</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">Language: English | </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=" Restricted "> <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=" None "> <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"> Other URL </a> </span> </span> <OnlyViewableByAuthor><div class="ratings"> <div class="journal-subject">Journal subject: Scopus - Neuroscience (miscellaneous)&nbsp;&nbsp;&nbsp;Rank:&nbsp;D1</div> </div></OnlyViewableByAuthor> <div class="publication-citation" style="margin-left: 0.5cm;"> <span title="" class="citingPub-count">Citing papers: 148</span> | Independent citation: 113 | Self citation: 35 | Unknown citation: 0 | Number of citations in WoS: 129 | Number of citations in Scopus:&nbsp;146 | WoS/Scopus assigned:&nbsp;148 | Number of citations with DOI:&nbsp;148 </div> <div class="publication-citation"> <a target="_blank" href="/api/publication?cond=citations.related;eq;3249806&sort=publishedYear,desc&sort=title"> Number of cited publications: 1 </a> </div> <div class="mtid"><span class="long-pub-mtid">Publication: 3249806</span> | <span class="status-data status-APPROVED"> Published </span> <span class="oldId">Old id: 3249806</span> | Core Citing | <span class="type-subtype">Journal Article ( Study Group ) </span> | <span class="pub-category">Scientific</span> | <span class="publication-sourceOfData">MEDLINE</span> </div> <div class="lastModified">Last Modified: 2026.04.23. 10:09 Kinga Sonnevend (SE_AOK_OrvVegytan_Admin5_SK, admin) </div> <pre class="comment" style="margin-top: 0; margin-bottom: 0;"><u>Comments</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 2026-07-29T09:12:59.211+0000 2026-07-08T12:34:58.897+0000 2017-02-15T11:54:12.000+0000 true 10023664 Barta Csaba /api/author/10023664 Author true 10023664 2026-07-08T12:34:58.507+0000 true false true 24 24 /api/publicationtype/24 PublicationType 1 true 24 JournalArticle true 10000059 Article true 24 24 /api/publicationtype/24 PublicationType 1 true 24 JournalArticle /api/subtype/10000059 Szakcikk SubType 101 true 10000059 true 1 /api/category/1 Category 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 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 2026-07-29 true https://doi.org/10.3389/fnins.2016.00428 true 10026589 Tichy Rita /api/admin/10026589 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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/api/keyword/1435467 true 1435467 true Keyword 1435468 /api/keyword/1435468 true 1435468 true Keyword 1435469 /api/keyword/1435469 true 1435469 true Keyword 1435471 /api/keyword/1435471 true 1435471 true Keyword 1603189 /api/keyword/1603189 true true SjrRating 10951976 /api/sjrrating/10951976 33 0.24 journal RatingType 10002 /api/ratingtype/10002 sjr true true ClassificationExternal 2801 /api/classificationexternal/2801 true 2801 true Q1 DIRECT true true /api/publication/3185080 <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> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Potamianou H<sup>*</sup> </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Xing JC </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Deng L </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Karagiannidis I </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Tsetsos F </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Drineas P </span> ;&nbsp;&nbsp;&nbsp; <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> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Rizzo R </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Wolanczyk T </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Farkas L </span> ;&nbsp;&nbsp;&nbsp; <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">Bethesda Children’s Hospital</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Szymanska U </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Androutsos C </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Tsironi V </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Koumoulas A </span> ;&nbsp;&nbsp;&nbsp; <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 University">SU</span>/<span title="Faculty of Medicine">FM</span>/<span title="Instituties">I</span>/Department of Medical Chemistry, Molecular Biology and Pathobiochemistry</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Sandor P </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Barr CL </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Tischfield J </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Paschou P </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Heiman GA ✉ </span> ;&nbsp;&nbsp;&nbsp; <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" 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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">Journal subject: Scopus - Neuroscience (miscellaneous)&nbsp;&nbsp;&nbsp;Rank:&nbsp;Q1</div> </div></OnlyViewableByAuthor> <div class="publication-citation" style="margin-left: 0.5cm;"> <span title="" class="citingPub-count">Citing papers: 20</span> | Independent citation: 15 | Self citation: 5 | Unknown citation: 0 | Number of citations in WoS: 19 | Number of citations in Scopus:&nbsp;20 | WoS/Scopus assigned:&nbsp;20 | Number of citations with DOI:&nbsp;20 </div> <div class="publication-citation"> <a target="_blank" href="/api/publication?cond=citations.related;eq;3185080&sort=publishedYear,desc&sort=title"> Number of cited publications: 2 </a> </div> <div class="mtid"><span class="long-pub-mtid">Publication: 3185080</span> | <span class="status-data status-APPROVED"> Published </span> <span class="oldId">Old id: 3185080</span> | Core Citing | <span class="type-subtype">Journal Article ( Article ) </span> | <span class="pub-category">Scientific</span> | <span class="publication-sourceOfData">WOS</span> </div> <div class="lastModified">Last Modified: 2026.07.08. 14:34 Kinga Sonnevend (SE_AOK_OrvVegytan_Admin5_SK, admin) </div> <pre class="comment" style="margin-top: 0; margin-bottom: 0;"><u>Comments</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>