2018
De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis
Wang S, Mandell JD, Kumar Y, Sun N, Morris MT, Arbelaez J, Nasello C, Dong S, Duhn C, Zhao X, Yang Z, Padmanabhuni SS, Yu D, King RA, Dietrich A, Khalifa N, Dahl N, Huang AY, Neale BM, Coppola G, Mathews CA, Scharf JM, Study T, Abdulkadir M, Arbelaez J, Bodmer B, Bromberg Y, Brown L, Cheon K, Coffey B, Deng L, Dietrich A, Dong S, Duhn C, Elzerman L, Fernandez T, Fremer C, Garcia-Delgar B, Gilbert D, Grice D, Hagstrøm J, Hedderly T, Heiman G, Heyman I, Hoekstra P, Hong H, Huyser C, Kim E, Kim Y, Kim Y, King R, Koh Y, Kook S, Kuperman S, Leventhal B, Ludolph A, Madruga-Garrido M, Mandell J, Maras A, Mir P, Morer A, Morris M, Müller-Vahl K, Münchau A, Murphy T, Nasello C, Plessen K, Poisner H, Roessner V, Sanders S, Shin E, Song D, Song J, State M, Sun N, Thackray J, Tischfield J, Tübing J, Visscher F, Wanderer S, Wang S, Willsey A, Woods M, Xing J, Zhang Y, Zhao X, Zinner S, Initiative T, Androutsos C, Barta C, Farkas L, Fichna J, Georgitsi M, Janik P, Karagiannidis I, Koumoula A, Nagy P, Paschou P, Puchala J, Rizzo R, Szejko N, Szymanska U, Tarnok Z, Tsironi V, Wolanczyk T, Zekanowski C, Genetics T, Barr C, Batterson J, Berlin C, Bruun R, Budman C, Cath D, Chouinard S, Coppola G, Cox N, Darrow S, Davis L, Dion Y, Freimer N, Grados M, Hirschtritt M, Huang A, Illmann C, Kurlan R, Leckman J, Lyon G, Malaty I, Mathews C, MacMahon W, Neale B, Okun M, Osiecki L, Pauls D, Posthuma D, Ramensky V, Robertson M, Rouleau G, Sandor P, Scharf J, Singer H, Smit J, Sul J, Yu D, Fernandez T, Buxbaum J, De Rubeis S, Grice D, Xing J, Heiman G, Tischfield J, Paschou P, Willsey A, State M. De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis. Cell Reports 2018, 24: 3441-3454.e12. PMID: 30257206, PMCID: PMC6475626, DOI: 10.1016/j.celrep.2018.08.082.Peer-Reviewed Original ResearchConceptsCell polarityNumber variantsSequence variantsDe novo damaging variantsDe novoDe novo sequencesCopy number variantsNovo sequencesWhole-exome sequencingDamaging variantsRisk genesGenesCommon pathwayNovoSignificant overlapVariantsTriosGenetic riskSequencingCELSR3PathwayPolaritySequenceSignificant excessFamily
2017
A total-population multigenerational family clustering study of autoimmune diseases in obsessive–compulsive disorder and Tourette’s/chronic tic disorders
Mataix-Cols D, Frans E, Pérez-Vigil A, Kuja-Halkola R, Gromark C, Isomura K, Fernández de la Cruz L, Serlachius E, Leckman JF, Crowley JJ, Rück C, Almqvist C, Lichtenstein P, Larsson H. A total-population multigenerational family clustering study of autoimmune diseases in obsessive–compulsive disorder and Tourette’s/chronic tic disorders. Molecular Psychiatry 2017, 23: 1652-1658. PMID: 29133949, PMCID: PMC5951741, DOI: 10.1038/mp.2017.215.Peer-Reviewed Original ResearchConceptsObsessive-compulsive disorderAutoimmune diseasesChronic tic disorderIndividual autoimmune diseasesThird-degree relativesTic disordersRisk of ADsNational Patient RegisterPatterns of comorbidityFirst-degree relativesPatient RegisterPlacental transmissionNationwide studyBirth cohortCTD casesFamilial clusteringDisordersComorbiditiesPopulation controlsProbandsOCD probandsBiological relativesDiseaseFamilial linkRisk
2005
Sequence Variants in SLITRK1 Are Associated with Tourette's Syndrome
Abelson JF, Kwan KY, O'Roak BJ, Baek DY, Stillman AA, Morgan TM, Mathews CA, Pauls DL, Rašin M, Gunel M, Davis NR, Ercan-Sencicek AG, Guez DH, Spertus JA, Leckman JF, Dure LS, Kurlan R, Singer HS, Gilbert DL, Farhi A, Louvi A, Lifton RP, Šestan N, State MW. Sequence Variants in SLITRK1 Are Associated with Tourette's Syndrome. Science 2005, 310: 317-320. PMID: 16224024, DOI: 10.1126/science.1116502.Peer-Reviewed Original ResearchMeSH Keywords3' Untranslated RegionsAdolescentAnimalsAttention Deficit Disorder with HyperactivityBrainChildChild, PreschoolChromosome InversionChromosome MappingChromosomes, Human, Pair 13DNADNA Mutational AnalysisFemaleFrameshift MutationHumansIn Situ Hybridization, FluorescenceMaleMembrane ProteinsMiceMutationNerve Tissue ProteinsPedigreeSequence Analysis, DNATourette SyndromeConceptsSequence variantsTourette syndromeChromosomal inversionsFrameshift mutantsCandidate genesExpression patternsControl chromosomesPrimary neuronal culturesFrameshift mutationSLITRK1Independent occurrenceMotor ticsDevelopmental neuropsychiatric disordersChronic vocalNeuronal culturesIdentical variantsUnrelated probandsBrain regionsNeuropsychiatric disordersSyndrome
2004
Linkage analysis of ordinal traits for pedigree data
Feng R, Leckman JF, Zhang H. Linkage analysis of ordinal traits for pedigree data. Proceedings Of The National Academy Of Sciences Of The United States Of America 2004, 101: 16739-16744. PMID: 15548606, PMCID: PMC534720, DOI: 10.1073/pnas.0404623101.Peer-Reviewed Original ResearchConceptsLinkage analysisOrdinal traitsTourette Syndrome Association International ConsortiumLinkage analysis methodsQuantitative traitsEvidence of linkageGenome scanLinkage scanHuman diseasesAllele sharingTraitsPedigree dataInheritance patternDichotomous traitsSignificant allele sharingPhenotypeProportional odds logistic modelGENEHUNTERGenesGeneticsMarkersInternational Consortium
1996
Linkage disequilibrium between an allele at the dopamine D4 receptor locus and Tourette syndrome, by the transmission-disequilibrium test.
Grice DE, Leckman JF, Pauls DL, Kurlan R, Kidd KK, Pakstis AJ, Chang FM, Buxbaum JD, Cohen DJ, Gelernter J. Linkage disequilibrium between an allele at the dopamine D4 receptor locus and Tourette syndrome, by the transmission-disequilibrium test. American Journal Of Human Genetics 1996, 59: 644-52. PMID: 8751866, PMCID: PMC1914894.Peer-Reviewed Original ResearchConceptsTourette syndromeChronic multiple ticsMultiple ticsTransmission disequilibrium test (TDT) methodsDopaminergic abnormalitiesFamily triosTransmission disequilibrium testReceptor locusSyndromeDopamine D4 receptor locusFunctional mutationsFunctional studiesCommon allelesAllelesPathogenesisParticular allelesDifferent binding propertiesAbnormalities
1991
Exacerbation of Gilles de la Tourette's syndrome associated with thermal stress: a family study.
Lombroso PJ, Mack G, Scahill L, King RA, Leckman JF. Exacerbation of Gilles de la Tourette's syndrome associated with thermal stress: a family study. Neurology 1991, 41: 1984-7. PMID: 1745360, DOI: 10.1212/wnl.41.12.1984.Peer-Reviewed Original ResearchConceptsGilles de la Tourette's syndrome