2021
Investigation of gene–environment interactions in relation to tic severity
Abdulkadir M, Yu D, Osiecki L, King RA, Fernandez TV, Brown LW, Cheon KA, Coffey BJ, Garcia-Delgar B, Gilbert DL, Grice DE, Hagstrøm J, Hedderly T, Heyman I, Hong HJ, Huyser C, Ibanez-Gomez L, Kim YK, Kim YS, Koh YJ, Kook S, Kuperman S, Leventhal B, Madruga-Garrido M, Maras A, Mir P, Morer A, Münchau A, Plessen KJ, Roessner V, Shin EY, Song DH, Song J, Visscher F, Zinner SH, Mathews CA, Scharf JM, Tischfield JA, Heiman GA, Dietrich A, Hoekstra PJ. Investigation of gene–environment interactions in relation to tic severity. Journal Of Neural Transmission 2021, 128: 1757-1765. PMID: 34389898, PMCID: PMC8536549, DOI: 10.1007/s00702-021-02396-y.Peer-Reviewed Original Research
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
2017
Extended-Release Guanfacine Does Not Show a Large Effect on Tic Severity in Children with Chronic Tic Disorders
Murphy TK, Fernandez TV, Coffey BJ, Rahman O, Gavaletz A, Hanks CE, Tillberg CS, Gomez LI, Sukhodolsky DG, Katsovich L, Scahill L. Extended-Release Guanfacine Does Not Show a Large Effect on Tic Severity in Children with Chronic Tic Disorders. Journal Of Child And Adolescent Psychopharmacology 2017, 27: 762-770. PMID: 28723227, DOI: 10.1089/cap.2017.0024.Peer-Reviewed Original ResearchConceptsExtended-release guanfacineLack of efficacyChronic tic disorderGuanfacine groupPlacebo groupYGTSS total scoreAdverse eventsTotal scoreTic disordersYale Global Tic Severity Scale total scoreClinical Global Impressions-Improvement scaleCommon adverse eventsPlacebo-controlled trialKey secondary outcomesPrimary outcome measureLarger efficacy trialScale total scoreDry mouthSecondary outcomesPreliminary efficacyWeek 8Efficacy trialsOutcome measuresTic severityTourette's disorderInvestigation of previously implicated genetic variants in chronic tic disorders: a transmission disequilibrium test approach
Abdulkadir M, Londono D, Gordon D, Fernandez TV, Brown LW, Cheon KA, Coffey BJ, Elzerman L, Fremer C, Fründt O, Garcia-Delgar B, Gilbert DL, Grice DE, Hedderly T, Heyman I, Hong HJ, Huyser C, Ibanez-Gomez L, Jakubovski E, Kim YK, Kim YS, Koh YJ, Kook S, Kuperman S, Leventhal B, Ludolph AG, Madruga-Garrido M, Maras A, Mir P, Morer A, Müller-Vahl K, Münchau A, Murphy TL, Plessen KJ, Roessner V, Shin EY, Song DH, Song J, Tübing J, van den Ban E, Visscher F, Wanderer S, Woods M, Zinner SH, King RA, Tischfield JA, Heiman GA, Hoekstra PJ, Dietrich A. Investigation of previously implicated genetic variants in chronic tic disorders: a transmission disequilibrium test approach. European Archives Of Psychiatry And Clinical Neuroscience 2017, 268: 301-316. PMID: 28555406, PMCID: PMC5708161, DOI: 10.1007/s00406-017-0808-8.Peer-Reviewed Original ResearchNeurogenetic analysis of childhood disintegrative disorder
Gupta AR, Westphal A, Yang DYJ, Sullivan CAW, Eilbott J, Zaidi S, Voos A, Vander Wyk BC, Ventola P, Waqar Z, Fernandez TV, Ercan-Sencicek AG, Walker MF, Choi M, Schneider A, Hedderly T, Baird G, Friedman H, Cordeaux C, Ristow A, Shic F, Volkmar FR, Pelphrey KA. Neurogenetic analysis of childhood disintegrative disorder. Molecular Autism 2017, 8: 19. PMID: 28392909, PMCID: PMC5379515, DOI: 10.1186/s13229-017-0133-0.Peer-Reviewed Original ResearchAdaptor Proteins, Signal TransducingAutism Spectrum DisorderBasic Helix-Loop-Helix Transcription FactorsBrainBrain MappingCase-Control StudiesChildChild, PreschoolChromosomes, Human, XDisease ProgressionDNA Copy Number VariationsExome SequencingFemaleGene ExpressionHumansIntellectual DisabilityMagnetic Resonance ImagingMaleMaternal InheritanceNuclear ProteinsPhenotypePolymorphism, GeneticSeverity of Illness IndexSiblingsTranscription FactorsTranscriptome
2016
Pre- and perinatal complications in relation to Tourette syndrome and co-occurring obsessive-compulsive disorder and attention-deficit/hyperactivity disorder
Abdulkadir M, Tischfield JA, King RA, Fernandez TV, Brown LW, Cheon KA, Coffey BJ, de Bruijn SF, Elzerman L, Garcia-Delgar B, Gilbert DL, Grice DE, Hagstrøm J, Hedderly T, Heyman I, Hong HJ, Huyser C, Ibanez-Gomez L, Kim YK, Kim YS, Koh YJ, Kook S, Kuperman S, Lamerz A, Leventhal B, Ludolph AG, Madruga-Garrido M, Maras A, Messchendorp MD, Mir P, Morer A, Münchau A, Murphy TL, Openneer TJ, Plessen KJ, Rath JJ, Roessner V, Fründt O, Shin EY, Sival DA, Song DH, Song J, Stolte AM, Tübing J, van den Ban E, Visscher F, Wanderer S, Woods M, Zinner SH, State MW, Heiman GA, Hoekstra PJ, Dietrich A. Pre- and perinatal complications in relation to Tourette syndrome and co-occurring obsessive-compulsive disorder and attention-deficit/hyperactivity disorder. Journal Of Psychiatric Research 2016, 82: 126-135. PMID: 27494079, PMCID: PMC5026935, DOI: 10.1016/j.jpsychires.2016.07.017.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultAge FactorsAgedAged, 80 and overAttention Deficit Disorder with HyperactivityCase-Control StudiesChildChild, PreschoolEuropeFemaleHumansMaleMiddle AgedObsessive-Compulsive DisorderParent-Child RelationsPregnancyPregnancy ComplicationsPsychiatric Status Rating ScalesRepublic of KoreaRetrospective StudiesSeverity of Illness IndexSex FactorsTic DisordersTourette SyndromeUnited StatesYoung AdultConceptsCo-occurring obsessive-compulsive disorderChronic tic disorderAttention-deficit/hyperactivity disorderObsessive-compulsive disorderPerinatal complicationsTic disordersTourette syndromeUnaffected family controlsHyperactivity disorderNeonatal complicationsDelivery complicationsPremature birthClinical expressionMorning sicknessMedical attentionComplicationsSymptom severityPropensity scoreFirst weekDisordersEarly exposureADHD severitySeverityCollaborative Genetics StudySyndrome
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 studies