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
2021
Whole-exome sequencing identifies genes associated with Tourette’s disorder in multiplex families
Cao X, Zhang Y, Abdulkadir M, Deng L, Fernandez TV, Garcia-Delgar B, Hagstrøm J, Hoekstra PJ, King RA, Koesterich J, Kuperman S, Morer A, Nasello C, Plessen KJ, Thackray JK, Zhou L, Dietrich A, Tischfield J, Heiman G, Xing J. Whole-exome sequencing identifies genes associated with Tourette’s disorder in multiplex families. Molecular Psychiatry 2021, 26: 6937-6951. PMID: 33837273, PMCID: PMC8501157, DOI: 10.1038/s41380-021-01094-1.Peer-Reviewed Original ResearchConceptsCandidate genesProtein-protein interaction networkGene ontology categoriesHigh-throughput sequencingStrong candidate geneCandidate gene expressionFamily member 1Heritable neurodevelopmental disorderIdentifies genesNovel genesOntology categoriesNeurodevelopmental disordersMultiplex familiesInteraction networksPolygenic natureBiological insightsGene expressionFunction predictionWhole-exome sequencingGenesGenetic variantsSegregation patternsGenetic heterogeneitySegregation informationMember 1
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
2015
Genetics of Tourette Syndrome
Lennington J, Coppola G, Fernandez T. Genetics of Tourette Syndrome. 2015, 169-189. DOI: 10.1007/978-3-319-17223-1_9.ChaptersGene networksBiological pathwaysGenetic variantsStructural genetic variantsTranscriptomic variationReplication of associationBioinformatics analysisRecent profilingSubstantial genetic contributionMultiple genesCandidate genesGene expressionComplex neuropsychiatric disorderGenesGenetic contributionRare mutationsGenetic etiologyStructural variationsPathwayRare sequencesEnvironmental factorsNeuropsychiatric disordersDevelopmental neuropsychiatric disordersTS casesGenetics
2013
Partitioning the Heritability of Tourette Syndrome and Obsessive Compulsive Disorder Reveals Differences in Genetic Architecture
Davis LK, Yu D, Keenan CL, Gamazon ER, Konkashbaev AI, Derks EM, Neale BM, Yang J, Lee SH, Evans P, Barr CL, Bellodi L, Benarroch F, Berrio GB, Bienvenu OJ, Bloch MH, Blom RM, Bruun RD, Budman CL, Camarena B, Campbell D, Cappi C, Silgado J, Cath DC, Cavallini MC, Chavira DA, Chouinard S, Conti DV, Cook EH, Coric V, Cullen BA, Deforce D, Delorme R, Dion Y, Edlund CK, Egberts K, Falkai P, Fernandez TV, Gallagher PJ, Garrido H, Geller D, Girard SL, Grabe HJ, Grados MA, Greenberg BD, Gross-Tsur V, Haddad S, Heiman GA, Hemmings SM, Hounie AG, Illmann C, Jankovic J, Jenike MA, Kennedy JL, King RA, Kremeyer B, Kurlan R, Lanzagorta N, Leboyer M, Leckman JF, Lennertz L, Liu C, Lochner C, Lowe TL, Macciardi F, McCracken JT, McGrath LM, Restrepo S, Moessner R, Morgan J, Muller H, Murphy DL, Naarden AL, Ochoa WC, Ophoff RA, Osiecki L, Pakstis AJ, Pato MT, Pato CN, Piacentini J, Pittenger C, Pollak Y, Rauch SL, Renner TJ, Reus VI, Richter MA, Riddle MA, Robertson MM, Romero R, Rosàrio MC, Rosenberg D, Rouleau GA, Ruhrmann S, Ruiz-Linares A, Sampaio AS, Samuels J, Sandor P, Sheppard B, Singer HS, Smit JH, Stein DJ, Strengman E, Tischfield JA, Duarte A, Vallada H, Van Nieuwerburgh F, Veenstra-VanderWeele J, Walitza S, Wang Y, Wendland JR, Westenberg HG, Shugart YY, Miguel EC, McMahon W, Wagner M, Nicolini H, Posthuma D, Hanna GL, Heutink P, Denys D, Arnold PD, Oostra BA, Nestadt G, Freimer NB, Pauls DL, Wray NR, Stewart SE, Mathews CA, Knowles JA, Cox NJ, Scharf JM. Partitioning the Heritability of Tourette Syndrome and Obsessive Compulsive Disorder Reveals Differences in Genetic Architecture. PLOS Genetics 2013, 9: e1003864. PMID: 24204291, PMCID: PMC3812053, DOI: 10.1371/journal.pgen.1003864.Peer-Reviewed Original ResearchConceptsGenome-wide complex trait analysisExpression quantitative trait lociGenetic architectureGenetic correlationsGenome-wide common variant dataQuantitative trait lociComplex trait analysisDistinct genetic architecturesGenomic architectureGenomic elementsFunctional annotationMinor allele frequencyTrait lociPrevious heritability estimatesMAF binsGWAS studiesGene expressionTrait analysisHeritabilityGenetic overlapVariant dataHeritability estimatesAllele frequenciesCommon variationSNPs