2024
Rare de novo damaging DNA variants are enriched in attention-deficit/hyperactivity disorder and implicate risk genes
Olfson E, Farhat L, Liu W, Vitulano L, Zai G, Lima M, Parent J, Polanczyk G, Cappi C, Kennedy J, Fernandez T. Rare de novo damaging DNA variants are enriched in attention-deficit/hyperactivity disorder and implicate risk genes. Nature Communications 2024, 15: 5870. PMID: 38997333, PMCID: PMC11245598, DOI: 10.1038/s41467-024-50247-7.Peer-Reviewed Original ResearchMeSH KeywordsAttention Deficit Disorder with HyperactivityCase-Control StudiesChildExome SequencingFemaleGenetic Predisposition to DiseaseHistone DemethylasesHumansMaleMutationRisk FactorsConceptsDNA sequencesRisk genesHigh-confidence risk genesWhole-exome DNA sequencingSequencing of familiesIdentified de novoLysine demethylase 5BDNA variantsTrio cohortBiological pathwaysGenesSequencing cohortGenetic factorsChildhood neurodevelopmental disordersAttention-deficit/hyperactivity disorderSequenceVariantsADHD riskNeurodevelopmental disordersKDM5BDNAMutationsFamilyLysineDiscovery
2023
Rare X-linked variants carry predominantly male risk in autism, Tourette syndrome, and ADHD
Wang S, Wang B, Drury V, Drake S, Sun N, Alkhairo H, Arbelaez J, Duhn C, Bal V, Langley K, Martin J, Hoekstra P, Dietrich A, Xing J, Heiman G, Tischfield J, Fernandez T, Owen M, O’Donovan M, Thapar A, State M, Willsey A. Rare X-linked variants carry predominantly male risk in autism, Tourette syndrome, and ADHD. Nature Communications 2023, 14: 8077. PMID: 38057346, PMCID: PMC10700338, DOI: 10.1038/s41467-023-43776-0.Peer-Reviewed Original ResearchMeSH KeywordsAttention Deficit Disorder with HyperactivityAutism Spectrum DisorderAutistic DisorderFemaleHumansMaleNeurodevelopmental DisordersTourette SyndromeConceptsDamaging variantsHigh-confidence ASD risk genesExome-wide significanceRare genetic variationASD risk genesRare damaging variantsHemizygous natureWhole-exome sequencing studiesExome sequencing studiesGene discoveryMultiple neurodevelopmental disordersGenetic variationGenetic mechanismsChr XMale sex biasSequencing studiesChromosome XRisk genesTransmission disequilibrium testAttention-deficit/hyperactivity disorderASD probandsAutism spectrum disorderASD familiesSex biasInformative recombinations
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 ResearchAttention Deficit Disorder with HyperactivityAutism Spectrum DisorderFemaleGene-Environment InteractionGenome-Wide Association StudyHumansPregnancySeverity of Illness IndexTicsTourette Syndrome
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 StudySyndromeWhat Makes You Tic? A New Lead in Tourette Syndrome Genetics
Fernandez TV. What Makes You Tic? A New Lead in Tourette Syndrome Genetics. Biological Psychiatry 2016, 79: 341-342. PMID: 26847659, PMCID: PMC4758116, DOI: 10.1016/j.biopsych.2015.12.018.Commentaries, Editorials and LettersAttention Deficit Disorder with HyperactivityHumansObsessive-Compulsive DisorderTicsTourette Syndrome
2014
The Tourette International Collaborative Genetics (TIC Genetics) study, finding the genes causing Tourette syndrome: objectives and methods
Dietrich A, Fernandez TV, King RA, State MW, Tischfield JA, Hoekstra PJ, Heiman GA, the TIC Genetics Collaborative Group. The Tourette International Collaborative Genetics (TIC Genetics) study, finding the genes causing Tourette syndrome: objectives and methods. European Child & Adolescent Psychiatry 2014, 24: 141-151. PMID: 24771252, PMCID: PMC4209328, DOI: 10.1007/s00787-014-0543-x.Peer-Reviewed Original ResearchMeSH KeywordsAttention Deficit Disorder with HyperactivityChildCooperative BehaviorFemaleGene-Environment InteractionGenetic LinkageGenetic Predisposition to DiseaseGenomicsHumansObsessive-Compulsive DisorderPedigreeTic DisordersTicsTourette SyndromeConceptsGenetic studiesSimilar genetic architectureGene discovery effortsMultiply affected pedigreesSingle major geneParent-child triosGenetic architectureMultigenic inheritanceDe novo mutationsMajor geneGenomic researchCollaborative Genetics StudyAffected pedigreesDiscovery effortsGenetic variantsGenetic contributionGenetics ConsortiumNovo mutationsGenesRare variantsBroader scientific communityGenetic riskRecent progressGeneticsVariants
2012
Genome-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