https://m2.mtmt.hu/ eng 2026-07-26 13:00 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 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 2026-07-08 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 Folyóiratcikk Journal Article 24 20 Könyvrészlet Chapter in Book 25 0 Könyv Book 23 0 Egyéb konferenciaközlemény Conference paper 31 0 Egyéb konferenciakötet Conference proceedings 32 0 Oltalmi formák Protection forms 26 0 Disszertáció Thesis 28 0 Egyéb Miscellaneous 29 0 Alkotás Achievement 22 0 Kutatási adat Research data 33 0 Folyóiratcikk Journal Article 24 0 0 0 Könyvrészlet Chapter in Book 25 0 0 0 Könyv Book 23 0 0 0 Egyéb konferenciaközlemény Conference paper 31 0 0 0 Egyéb konferenciakötet Conference proceedings 32 0 0 0 Oltalmi formák Protection forms 26 0 0 0 Disszertáció Thesis 28 0 0 0 Egyéb Miscellaneous 29 0 0 0 Alkotás Achievement 22 0 0 0 Kutatási adat Research data 33 0 0 0 2017 0 4 3 4 3 2018 0 2 1 2 1 2019 0 4 4 4 4 2020 0 2 1 2 1 2021 0 3 1 3 1 2022 0 1 1 1 1 2023 0 2 2 2 2 2024 0 1 1 1 1 2025 0 1 1 1 1 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/1268965 true 1268965 true Keyword 1435467 /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 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" 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="10.3389/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">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>