2024
Familial Recurrence of Autism: Updates From the Baby Siblings Research Consortium.
Ozonoff S, Young G, Bradshaw J, Charman T, Chawarska K, Iverson J, Klaiman C, Landa R, McDonald N, Messinger D, Schmidt R, Wilkinson C, Zwaigenbaum L. Familial Recurrence of Autism: Updates From the Baby Siblings Research Consortium. 2024, 154 PMID: 39011552, PMCID: PMC11291960, DOI: 10.1542/peds.2023-065297.Peer-Reviewed Original ResearchRecurrence rateFamilial recurrence rateDatabase of infantsMale infant sexPredictors of recurrenceAssociated with recurrencePopulation-based studyMultiple affected siblingsProspective studyInfant sexHierarchical generalized linear modelsDiagnostic evaluationFamilial recurrenceAutism spectrum disorderRecurrenceResearch ConsortiumFemale probandsMultinational databaseMale probandsMaternal educationProbandsFemale siblingsProband sexLikelihood ratioCalculate likelihood ratios
2023
The genetic epidemiology of obsessive-compulsive disorder: a systematic review and meta-analysis
Blanco-Vieira T, Radua J, Marcelino L, Bloch M, Mataix-Cols D, do Rosário M. The genetic epidemiology of obsessive-compulsive disorder: a systematic review and meta-analysis. Translational Psychiatry 2023, 13: 230. PMID: 37380645, PMCID: PMC10307810, DOI: 10.1038/s41398-023-02433-2.Peer-Reviewed Original ResearchConceptsFirst-degree relativesSystematic reviewPopulation-based studyGenetic epidemiologyRelatives of childrenOutcomes of interestFirst systematic reviewObsessive-compulsive disorderRecurrence rateFamilial recurrence rateMedical recordsOpenGrey databasesControl groupControl probandsFamilial disorderAdolescent probandsStudy designEpidemiologyTwin study designOCD diagnosisIndependent researchersDizygotic twinsTwin pairsDisordersOCD
2020
Chapter 40 Tourette syndrome
Fasching L, Brady M, Bloch M, Lombroso P, Vaccarino F. Chapter 40 Tourette syndrome. 2020, 675-686. DOI: 10.1016/b978-0-12-813866-3.00040-0.ChaptersTourette syndromeThalamic-cortical circuitryHuman postmortem brain tissueThalamo-cortical circuitryAdult TS patientsStriatal volume lossPostmortem brain tissueEnvironmental risk factorsStriatal interneuronsDopaminergic receptorsRecurrence rateAmeliorate symptomsBasal gangliaRisk factorsFamilial recurrence ratePharmacological strategiesVocal ticsTS patientsAnimal modelsMetabolic hypofunctionComplex neuropsychiatric disorderBrain tissueMolecular abnormalitiesNeuropsychiatric disordersGenetic alterations
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
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