2022
The genetic basis of Gilles de la Tourette syndrome
Abdallah S, Realbuto E, Kaka M, Yang K, Topaloudi A, Paschou P, Scharf J, Fernandez T. The genetic basis of Gilles de la Tourette syndrome. International Review Of Movement Disorders 2022, 4: 3-38. DOI: 10.1016/bs.irmvd.2022.07.001.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsGenome-wide association studiesGenetic architectureCell type-specific gene expressionAssociation studiesComplex genetic architectureSingle causative geneFull genetic architectureSpecific gene expressionCandidate gene association studiesComprehensive genomic studiesCommon variant effectsPleiotropic gene effectsCommon genetic variantsGene association studiesEpigenetic marksGene regulationIndividual genesGenomic studiesLarge-scale approachGenetic basisGene expressionWhole-exome sequencing analysisBiological processesBiological pathwaysMendelian inheritance
2019
Interrogating the Genetic Determinants of Tourette’s Syndrome and Other Tic Disorders Through Genome-Wide Association Studies
Yu D, Sul JH, Tsetsos F, Nawaz MS, Huang AY, Zelaya I, Illmann C, Osiecki L, Darrow SM, Hirschtritt ME, Greenberg E, Muller-Vahl KR, Stuhrmann M, Dion Y, Rouleau G, Aschauer H, Stamenkovic M, Schlögelhofer M, Sandor P, Barr CL, Grados M, Singer HS, Nöthen MM, Hebebrand J, Hinney A, King RA, Fernandez TV, Barta C, Tarnok Z, Nagy P, Depienne C, Worbe Y, Hartmann A, Budman CL, Rizzo R, Lyon GJ, McMahon WM, Batterson JR, Cath DC, Malaty IA, Okun MS, Berlin C, Woods DW, Lee PC, Jankovic J, Robertson MM, Gilbert DL, Brown LW, Coffey BJ, Dietrich A, Hoekstra PJ, Kuperman S, Zinner SH, Luðvigsson P, Sæmundsen E, Thorarensen Ó, Atzmon G, Barzilai N, Wagner M, Moessner R, Ophoff R, Pato CN, Pato MT, Knowles JA, Roffman JL, Smoller JW, Buckner RL, Willsey AJ, Tischfield JA, Heiman GA, Stefansson H, Stefansson K, Posthuma D, Cox NJ, Pauls DL, Freimer NB, Neale BM, Davis LK, Paschou P, Coppola G, Mathews CA, Scharf JM. Interrogating the Genetic Determinants of Tourette’s Syndrome and Other Tic Disorders Through Genome-Wide Association Studies. American Journal Of Psychiatry 2019, 176: 217-227. PMID: 30818990, PMCID: PMC6677250, DOI: 10.1176/appi.ajp.2018.18070857.Peer-Reviewed Original ResearchConceptsGenome-wide association study approachGenome-wide significant lociGenome-wide association studiesGene-based associationGene-based analysisPolygenic risk scoresGenetic architectureSignificant lociEnrichment analysisGene expressionTop lociGenetic levelAssociation studiesSyndrome pathogenesisGenetic determinantsChromosome 13Genetic variantsGWASGenetic etiologyIndependent population-based samplesLociFundamental mechanismsGenesVariantsHeritability
2018
Analysis of shared heritability in common disorders of the brain
Consortium T, Anttila V, Bulik-Sullivan B, Finucane HK, Walters RK, Bras J, Duncan L, Escott-Price V, Falcone GJ, Gormley P, Malik R, Patsopoulos NA, Ripke S, Wei Z, Yu D, Lee PH, Turley P, Grenier-Boley B, Chouraki V, Kamatani Y, Berr C, Letenneur L, Hannequin D, Amouyel P, Boland A, Deleuze JF, Duron E, Vardarajan BN, Reitz C, Goate AM, Huentelman MJ, Kamboh MI, Larson EB, Rogaeva E, St George-Hyslop P, Hakonarson H, Kukull WA, Farrer LA, Barnes LL, Beach TG, Demirci FY, Head E, Hulette CM, Jicha GA, Kauwe JSK, Kaye JA, Leverenz JB, Levey AI, Lieberman AP, Pankratz VS, Poon WW, Quinn JF, Saykin AJ, Schneider LS, Smith AG, Sonnen JA, Stern RA, Van Deerlin VM, Van Eldik LJ, Harold D, Russo G, Rubinsztein DC, Bayer A, Tsolaki M, Proitsi P, Fox NC, Hampel H, Owen MJ, Mead S, Passmore P, Morgan K, Nöthen MM, Schott J, Rossor M, Lupton M, Hoffmann P, Kornhuber J, Lawlor B, McQuillin A, Al-Chalabi A, Bis J, Ruiz A, Boada M, Seshadri S, Beiser A, Rice K, van der Lee S, De Jager P, Geschwind D, Riemenschneider M, Riedel-Heller S, Rotter J, Ransmayr G, Hyman B, Cruchaga C, Alegret M, Winsvold B, Palta P, Farh K, Cuenca-Leon E, Furlotte N, Kurth T, Ligthart L, Terwindt G, Freilinger T, Ran C, Gordon S, Borck G, Adams H, Lehtimäki T, Wedenoja J, Buring J, Schürks M, Hrafnsdottir M, Hottenga J, Penninx B, Artto V, Kaunisto M, Vepsäläinen S, Martin N, Montgomery G, Kurki M, Hämäläinen E, Huang H, Huang J, Sandor C, Webber C, Muller-Myhsok B, Schreiber S, Salomaa V, Loehrer E, Göbel H, Macaya A, Pozo-Rosich P, Hansen T, Werge T, Kaprio J, Metspalu A, Kubisch C, Ferrari M, Belin A, van den Maagdenberg A, Zwart J, Boomsma D, Eriksson N, Olesen J, Chasman D, Nyholt D, Anney R, Avbersek A, Baum L, Berkovic S, Bradfield J, Buono R, Catarino C, Cossette P, De Jonghe P, Depondt C, Dlugos D, Ferraro T, French J, Hjalgrim H, Jamnadas-Khoda J, Kälviäinen R, Kunz W, Lerche H, Leu C, Lindhout D, Lo W, Lowenstein D, McCormack M, Møller R, Molloy A, Ng P, Oliver K, Privitera M, Radtke R, Ruppert A, Sander T, Schachter S, Schankin C, Scheffer I, Schoch S, Sisodiya S, Smith P, Sperling M, Striano P, Surges R, Thomas G, Visscher F, Whelan C, Zara F, Heinzen E, Marson A, Becker F, Stroink H, Zimprich F, Gasser T, Gibbs R, Heutink P, Martinez M, Morris H, Sharma M, Ryten M, Mok K, Pulit S, Bevan S, Holliday E, Attia J, Battey T, Boncoraglio G, Thijs V, Chen W, Mitchell B, Rothwell P, Sharma P, Sudlow C, Vicente A, Markus H, Kourkoulis C, Pera J, Raffeld M, Silliman S, Perica V, Thornton L, Huckins L, Rayner N, Lewis C, Gratacos M, Rybakowski F, Keski-Rahkonen A, Raevuori A, Hudson J, Reichborn-Kjennerud T, Monteleone P, Karwautz A, Mannik K, Baker J, O’Toole J, Trace S, Davis O, Helder S, Ehrlich S, Herpertz-Dahlmann B, Danner U, van Elburg A, Clementi M, Forzan M, Docampo E, Lissowska J, Hauser J, Tortorella A, Maj M, Gonidakis F, Tziouvas K, Papezova H, Yilmaz Z, Wagner G, Cohen-Woods S, Herms S, Julià A, Rabionet R, Dick D, Ripatti S, Andreassen O, Espeseth T, Lundervold A, Steen V, Pinto D, Scherer S, Aschauer H, Schosser A, Alfredsson L, Padyukov L, Halmi K, Mitchell J, Strober M, Bergen A, Kaye W, Szatkiewicz J, Cormand B, Ramos-Quiroga J, Sánchez-Mora C, Ribasés M, Casas M, Hervas A, Arranz M, Haavik J, Zayats T, Johansson S, Williams N, Elia J, Dempfle A, Rothenberger A, Kuntsi J, Oades R, Banaschewski T, Franke B, Buitelaar J, Vasquez A, Doyle A, Reif A, Lesch K, Freitag C, Rivero O, Palmason H, Romanos M, Langley K, Rietschel M, Witt S, Dalsgaard S, Børglum A, Waldman I, Wilmot B, Molly N, Bau C, Crosbie J, Schachar R, Loo S, McGough J, Grevet E, Medland S, Robinson E, Weiss L, Bacchelli E, Bailey A, Bal V, Battaglia A, Betancur C, Bolton P, Cantor R, Celestino-Soper P, Dawson G, De Rubeis S, Duque F, Green A, Klauck S, Leboyer M, Levitt P, Maestrini E, Mane S, De-Luca D, Parr J, Regan R, Reichenberg A, Sandin S, Vorstman J, Wassink T, Wijsman E, Cook E, Santangelo S, Delorme R, Rogé B, Magalhaes T, Arking D, Schulze T, Thompson R, Strohmaier J, Matthews K, Melle I, Morris D, Blackwood D, McIntosh A, Bergen S, Schalling M, Jamain S, Maaser A, Fischer S, Reinbold C, Fullerton J, Grigoroiu-Serbanescu M, Guzman-Parra J, Mayoral F, Schofield P, Cichon S, Mühleisen T, Degenhardt F, Schumacher J, Bauer M, Mitchell P, Gershon E, Rice J, Potash J, Zandi P, Craddock N, Ferrier I, Alda M, Rouleau G, Turecki G, Ophoff R, Pato C, Anjorin A, Stahl E, Leber M, Czerski P, Edenberg H, Cruceanu C, Jones I, Posthuma D, Andlauer T, Forstner A, Streit F, Baune B, Air T, Sinnamon G, Wray N, MacIntyre D, Porteous D, Homuth G, Rivera M, Grove J, Middeldorp C, Hickie I, Pergadia M, Mehta D, Smit J, Jansen R, de Geus E, Dunn E, Li Q, Nauck M, Schoevers R, Beekman A, Knowles J, Viktorin A, Arnold P, Barr C, Bedoya-Berrio G, Bienvenu O, Brentani H, Burton C, Camarena B, Cappi C, Cath D, Cavallini M, Cusi D, Darrow S, Denys D, Derks E, Dietrich A, Fernandez T, Figee M, Freimer N, Gerber G, Grados M, Greenberg E, Hanna G, Hartmann A, Hirschtritt M, Hoekstra P, Huang A, Huyser C, Illmann C, Jenike M, Kuperman S, Leventhal B, Lochner C, Lyon G, Macciardi F, Madruga-Garrido M, Malaty I, Maras A, McGrath L, Miguel E, Mir P, Nestadt G, Nicolini H, Okun M, Pakstis A, Paschou P, Piacentini J, Pittenger C, Plessen K, Ramensky V, Ramos E, Reus V, Richter M, Riddle M, Robertson M, Roessner V, Rosário M, Samuels J, Sandor P, Stein D, Tsetsos F, Van Nieuwerburgh F, Weatherall S, Wendland J, Wolanczyk T, Worbe Y, Zai G, Goes F, McLaughlin N, Nestadt P, Grabe H, Depienne C, Konkashbaev A, Lanzagorta N, Valencia-Duarte A, Bramon E, Buccola N, Cahn W, Cairns M, Chong S, Cohen D, Crespo-Facorro B, Crowley J, Davidson M, DeLisi L, Dinan T, Donohoe G, Drapeau E, Duan J, Haan L, Hougaard D, Karachanak-Yankova S, Khrunin A, Klovins J, Kučinskas V, Keong J, Limborska S, Loughland C, Lönnqvist J, Maher B, Mattheisen M, McDonald C, Murphy K, Murray R, Nenadic I, van Os J, Pantelis C, Pato M, Petryshen T, Quested D, Roussos P, Sanders A, Schall U, Schwab S, Sim K, So H, Stögmann E, Subramaniam M, Toncheva D, Waddington J, Walters J, Weiser M, Cheng W, Cloninger R, Curtis D, Gejman P, Henskens F, Mattingsdal M, Oh S, Scott R, Webb B, Breen G, Churchhouse C, Bulik C, Daly M, Dichgans M, Faraone S, Guerreiro R, Holmans P, Kendler K, Koeleman B, Mathews C, Price A, Scharf J, Sklar P, Williams J, Wood N, Cotsapas C, Palotie A, Smoller J, Sullivan P, Rosand J, Corvin A, Neale B. Analysis of shared heritability in common disorders of the brain. Science 2018, 360 PMID: 29930110, PMCID: PMC6097237, DOI: 10.1126/science.aap8757.Peer-Reviewed Original ResearchConceptsPsychiatric disordersBrain disordersCommon variant riskRisk factorsCommon disorderNeurological disordersDiagnostic misclassificationBrain phenotypesCommon genetic variationControl participantsDisordersVariant riskPhenotypic heterogeneityBrainEtiologic overlapGenetic sharingGenome-wide association studiesCognitive measuresAssociation studiesPhenotypeChapter 23 Tourette disorder and other tic disorders
Fernandez TV, State MW, Pittenger C. Chapter 23 Tourette disorder and other tic disorders. Handbook Of Clinical Neurology 2018, 147: 343-354. PMID: 29325623, DOI: 10.1016/b978-0-444-63233-3.00023-3.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsConceptsAssociation studiesLarge-effect variantsCandidate gene association studiesGene association studiesGenomewide association studiesSubstantial genetic contributionMultiple genesDevelopmental neuropsychiatric conditionsComplex neuropsychiatric disorderGenetic variantsGenetic contributionRare mutationsTic disordersGenomewide significanceTourette's disorderGenesEnvironmental factorsAccumulated evidenceLarge patient cohortPatient cohortMotor ticsInadequate sample sizePositive findingsNeuropsychiatric conditionsNeuropsychiatric disorders
2016
Whole-exome sequencing in obsessive-compulsive disorder identifies rare mutations in immunological and neurodevelopmental pathways
Cappi C, Brentani H, Lima L, Sanders SJ, Zai G, Diniz BJ, Reis VN, Hounie AG, Conceição do Rosário M, Mariani D, Requena GL, Puga R, Souza-Duran FL, Shavitt RG, Pauls DL, Miguel EC, Fernandez TV. Whole-exome sequencing in obsessive-compulsive disorder identifies rare mutations in immunological and neurodevelopmental pathways. Translational Psychiatry 2016, 6: e764-e764. PMID: 27023170, PMCID: PMC4872454, DOI: 10.1038/tp.2016.30.Peer-Reviewed Original ResearchConceptsSingle nucleotide variantsPPI networkPathway analysisProtein-protein interaction networkGenome-wide association studiesNovo single nucleotide variantsParticular biological pathwaysRare genetic variationDisease gene prioritizationDirect molecular interactionWhole-exome sequencing studiesGene discoveryNetwork genesSpecific risk genesNetwork enrichmentGenetic variationInteraction networksGene prioritizationCandidate genesAssociation studiesBiological pathwaysSequencing platformsSequencing studiesWhole-exome sequencingGenes
2015
No Evidence for Association of Autism with Rare Heterozygous Point Mutations in Contactin-Associated Protein-Like 2 (CNTNAP2), or in Other Contactin-Associated Proteins or Contactins
Murdoch JD, Gupta AR, Sanders SJ, Walker MF, Keaney J, Fernandez TV, Murtha MT, Anyanwu S, Ober GT, Raubeson MJ, DiLullo NM, Villa N, Waqar Z, Sullivan C, Gonzalez L, Willsey AJ, Choe SY, Neale BM, Daly MJ, State MW. No Evidence for Association of Autism with Rare Heterozygous Point Mutations in Contactin-Associated Protein-Like 2 (CNTNAP2), or in Other Contactin-Associated Proteins or Contactins. PLOS Genetics 2015, 11: e1004852. PMID: 25621974, PMCID: PMC4306541, DOI: 10.1371/journal.pgen.1004852.Peer-Reviewed Original ResearchConceptsContactin-Associated ProteinSingle nucleotide variantsRelated gene familiesPoint mutationsLike-2Autism risk genesHeterozygous single-nucleotide variantsNumber variation analysisGene familyNext-generation sequencingSequence dataMolecular cytogeneticsRare point mutationsAssociation studiesHomozygosity mappingNucleotide variantsRisk genesRare heterozygous mutationsProteinHeterozygous point mutationMutationsGenesVariation analysisContactinHeterozygous mutations
2014
Cross-Disorder Genome-Wide Analyses Suggest a Complex Genetic Relationship Between Tourette’s Syndrome and OCD
Yu D, Mathews CA, Scharf JM, Neale BM, Davis LK, Gamazon ER, Derks EM, Evans P, Edlund CK, Crane J, Fagerness JA, Osiecki L, Gallagher P, Gerber G, Haddad S, Illmann C, McGrath LM, Mayerfeld C, Arepalli S, Barlassina C, Barr CL, Bellodi L, Benarroch F, Berrió GB, Bienvenu OJ, Black DW, Bloch MH, Brentani H, Bruun RD, Budman CL, Camarena B, Campbell DD, Cappi C, Silgado JC, Cavallini MC, Chavira DA, Chouinard S, Cook EH, Cookson MR, Coric V, Cullen B, Cusi D, Delorme R, Denys D, Dion Y, Eapen V, Egberts K, Falkai P, Fernandez T, Fournier E, Garrido H, Geller D, Gilbert DL, Girard SL, Grabe HJ, Grados MA, Greenberg BD, Gross-Tsur V, Grünblatt E, Hardy J, Heiman GA, Hemmings SM, Herrera LD, Hezel DM, Hoekstra PJ, Jankovic J, Kennedy JL, King RA, Konkashbaev AI, Kremeyer B, Kurlan R, Lanzagorta N, Leboyer M, Leckman JF, Lennertz L, Liu C, Lochner C, Lowe TL, Lupoli S, Macciardi F, Maier W, Manunta P, Marconi M, McCracken JT, Mesa Restrepo SC, Moessner R, Moorjani P, Morgan J, Muller H, Murphy DL, Naarden AL, Nurmi E, Ochoa WC, Ophoff RA, Pakstis AJ, Pato MT, Pato CN, Piacentini J, Pittenger C, Pollak Y, Rauch SL, Renner T, Reus VI, Richter MA, Riddle MA, Robertson MM, Romero R, Rosário MC, Rosenberg D, Ruhrmann S, Sabatti C, Salvi E, Sampaio AS, Samuels J, Sandor P, Service SK, Sheppard B, Singer HS, Smit JH, Stein DJ, Strengman E, Tischfield JA, Turiel M, Valencia Duarte AV, Vallada H, Veenstra-VanderWeele J, Walitza S, Wang Y, Weale M, Weiss R, Wendland JR, Westenberg HG, Shugart YY, Hounie AG, Miguel EC, Nicolini H, Wagner M, Ruiz-Linares A, Cath DC, McMahon W, Posthuma D, Oostra BA, Nestadt G, Rouleau GA, Purcell S, Jenike MA, Heutink P, Hanna GL, Conti DV, Arnold PD, Freimer NB, Stewart SE, Knowles JA, Cox NJ, Pauls DL. Cross-Disorder Genome-Wide Analyses Suggest a Complex Genetic Relationship Between Tourette’s Syndrome and OCD. American Journal Of Psychiatry 2014, 172: 82-93. PMID: 25158072, PMCID: PMC4282594, DOI: 10.1176/appi.ajp.2014.13101306.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesSingle nucleotide polymorphismsPolygenic score analysisGene expression levelsGenetic architecturePhenotypic varianceCombined genome-wide association studyFunctional variantsPolygenic componentPolygenic signalSignificant polygenic componentExpression levelsGWAS summary statisticsAncestry-matched controlsBrain gene expression levelsComplex genetic relationshipsHeritable neurodevelopmental disorderTrue functional variantsParent-child triosGWAS signalsIndividual single nucleotide polymorphismsWide analysisGenetic variationUnderlying genetic susceptibilityAssociation studiesTranscriptome Analysis of the Human Striatum in Tourette Syndrome
Lennington JB, Coppola G, Kataoka-Sasaki Y, Fernandez TV, Palejev D, Li Y, Huttner A, Pletikos M, Sestan N, Leckman JF, Vaccarino FM. Transcriptome Analysis of the Human Striatum in Tourette Syndrome. Biological Psychiatry 2014, 79: 372-382. PMID: 25199956, PMCID: PMC4305353, DOI: 10.1016/j.biopsych.2014.07.018.Peer-Reviewed Original ResearchConceptsCopy number variantsGenome-wide association studiesGene coexpression modulesNumber variantsGene network analysisCommon genetic variantsCoexpression modulesUpregulated genesMetabolism modulesImmune-related genesNetwork analysisAssociation studiesDifferential expressionUpregulated modulesGenetic variantsGenesPatient's striatumTS individualsTranscriptomeVariantsMetabolic alterationsSame regionGamma-aminobutyric acidergic interneuronsTranscriptsRNARare deleterious mutations of the gene EFR3A in autism spectrum disorders
Gupta AR, Pirruccello M, Cheng F, Kang HJ, Fernandez TV, Baskin JM, Choi M, Liu L, Ercan-Sencicek AG, Murdoch JD, Klei L, Neale BM, Franjic D, Daly MJ, Lifton RP, De Camilli P, Zhao H, Šestan N, State MW. Rare deleterious mutations of the gene EFR3A in autism spectrum disorders. Molecular Autism 2014, 5: 31. PMID: 24860643, PMCID: PMC4032628, DOI: 10.1186/2040-2392-5-31.Peer-Reviewed Original ResearchExperiment-wide significance thresholdDeleterious mutationsModules of genesNovel candidate genesRare deleterious mutationsCase/control association studySignificance thresholdASD-related genesProtein complexesDe novo mutationsCandidate genesVariety of functionsExpression patternsWhole-exome dataProtein structureAssociation studiesSequencing studiesNonsynonymous mutationsDeep resequencingControl association studySplice site variantConservation measuresSite variantsGenesHuman fetal brain development
2013
Genetic Susceptibility in Tourette Syndrome
Fernandez T, State M. Genetic Susceptibility in Tourette Syndrome. 2013, 137-155. DOI: 10.1093/med/9780199796267.003.0007.ChaptersRare copy number variantsCopy number variantsAssociation studiesGenome-wide association studiesGenome-wide detectionNumber variantsCommon complex traitsCandidate gene association studiesHuman genetic studiesComplex genetic contributionsRare variant studiesEtiology of TSCausative genetic lociGene association studiesComplex traitsNonparametric linkage analysisGene mappingDeleterious mutationsEarlier segregation analysisGenetic lociHDC genePathway analysisTS familyGenetic studiesLinkage analysis
2012
Genetics of Tourette syndrome and related disorders
Motlagh M, Fernandez T, Leckman J. Genetics of Tourette syndrome and related disorders. 2012, 336-346. DOI: 10.1017/cbo9781139025997.029.ChaptersPsychiatric geneticsGenome-wide association studiesGene expression studiesPsychiatric genetic studiesSpecific genesExpression studiesAssociation studiesGenetic studiesGenetic databasesGeneticsGenetic epidemiologyWorldwide distributionVaried rolesBrain developmentGenetic influencesEpigeneticsDevelopmental disordersGenesAlzheimer's diseaseDysregulationFamilyRelated disordersGenome-wide association study of Tourette's syndrome
Scharf JM, Yu D, Mathews CA, Neale BM, Stewart SE, Fagerness JA, Evans P, Gamazon E, Edlund CK, Service SK, Tikhomirov A, Osiecki L, Illmann C, Pluzhnikov A, Konkashbaev A, Davis LK, Han B, Crane J, Moorjani P, Crenshaw AT, Parkin MA, Reus VI, Lowe TL, Rangel-Lugo M, Chouinard S, Dion Y, Girard S, Cath DC, Smit JH, King RA, Fernandez TV, Leckman JF, Kidd KK, Kidd JR, Pakstis AJ, State MW, Herrera LD, Romero R, Fournier E, Sandor P, Barr CL, Phan N, Gross-Tsur V, Benarroch F, Pollak Y, Budman CL, Bruun RD, Erenberg G, Naarden AL, Lee PC, Weiss N, Kremeyer B, Berrío GB, Campbell DD, Cardona Silgado JC, Ochoa WC, Mesa Restrepo SC, Muller H, Valencia Duarte AV, Lyon GJ, Leppert M, Morgan J, Weiss R, Grados MA, Anderson K, Davarya S, Singer H, Walkup J, Jankovic J, Tischfield JA, Heiman GA, Gilbert DL, Hoekstra PJ, Robertson MM, Kurlan R, Liu C, Gibbs JR, Singleton A, Hardy J, Strengman E, Ophoff R, Wagner M, Moessner R, Mirel D, Posthuma D, Sabatti C, Eskin E, Conti D, Knowles J, Ruiz-Linares A, Rouleau G, Purcell S, Heutink P, Oostra B, McMahon W, Freimer N, Cox N, Pauls D. Genome-wide association study of Tourette's syndrome. Molecular Psychiatry 2012, 18: 721-728. PMID: 22889924, PMCID: PMC3605224, DOI: 10.1038/mp.2012.69.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultAttention Deficit Disorder with HyperactivityCase-Control StudiesChromosomes, Human, Pair 9FemaleFibrillar CollagensGenetic Predisposition to DiseaseGenome-Wide Association StudyGenotypeHumansInternational CooperationMaleMeta-Analysis as TopicObsessive-Compulsive DisorderPolymorphism, Single NucleotideTourette SyndromeWhite PeopleYoung AdultConceptsGenome-wide association studiesFirst genome-wide association studyAssociation studiesTop signalsFull genetic architectureAncestry-matched controlsEuropean ancestry samplesGenetic architectureGWAS dataComplex inheritanceEuropean-derived populationsSusceptibility variantsSusceptibility genesEventual identificationEuropean ancestryCosta RicaChromosome 9q32Familial recurrence rateNorth AmericaComplete understandingAmerican populationCentral ValleyNeuropsychiatric diseasesDevelopmental disordersGenes