2017
De Novo Coding Variants Are Strongly Associated with Tourette Disorder
Willsey AJ, Fernandez TV, Yu D, King RA, Dietrich A, Xing J, Sanders SJ, Mandell JD, Huang AY, Richer P, Smith L, Dong S, Samocha KE, Genetics T, Abdulkadir M, Bohnenpoll J, Bromberg Y, Brown L, Cheon K, Coffey B, Deng L, Dietrich A, Dong S, Elzerman L, Fernandez T, Fründt O, Garcia-Delgar B, Gedvilaite E, Gilbert D, Grice D, Hagstrøm J, Hedderly T, Heiman G, Heyman I, Hoekstra P, Hong H, Huyser C, Ibanez-Gomez L, Kim Y, Kim Y, King R, Koh Y, Kook S, Kuperman S, Lamerz A, Leventhal B, Ludolph A, da Silva C, Madruga-Garrido M, Mandell J, Maras A, Mir P, Morer A, Münchau A, Murphy T, Nasello C, Openneer T, Plessen K, Richer P, Roessner V, Sanders S, Shin E, Sival D, Smith L, Song D, Song J, State M, Stolte A, Sun N, Tischfield J, Tübing J, Visscher F, Walker M, Wanderer S, Wang S, Willsey A, Woods M, Xing J, Zhang Y, Zhou A, Zinner S, 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, MaMahon 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, Neale B, Coppola G, Mathews C, Tischfield J, Scharf J, State M, Heiman G. De Novo Coding Variants Are Strongly Associated with Tourette Disorder. Neuron 2017, 94: 486-499.e9. PMID: 28472652, PMCID: PMC5769876, DOI: 10.1016/j.neuron.2017.04.024.Peer-Reviewed Original ResearchConceptsWhole-exome sequencingTourette's disorderDamaging variantsLikely gene-disrupting variantsComplex neurodevelopmental disorderClinical casesUnrelated probandsNeurodevelopmental disordersDe novo damaging variantsDisordersRisk genesGenetic cohortsConsistent evidenceCoding variantReplication sampleProbandsInternational ConsortiumCohortVariants
2016
Understanding the covariation of tics, attention‐deficit/hyperactivity, and obsessive‐compulsive symptoms: A population‐based adult twin study
Pinto R, Monzani B, Leckman JF, Rück C, Serlachius E, Lichtenstein P, Mataix‐Cols D. Understanding the covariation of tics, attention‐deficit/hyperactivity, and obsessive‐compulsive symptoms: A population‐based adult twin study. American Journal Of Medical Genetics Part B Neuropsychiatric Genetics 2016, 171: 938-947. PMID: 26919823, DOI: 10.1002/ajmg.b.32436.Peer-Reviewed Original ResearchConceptsAttention-deficit/hyperactivityObsessive-compulsive symptomsObsessive-compulsive disorderTic disordersChronic tic disorderAttention-deficit/hyperactivity symptomsSwedish adult twinsNon-shared environmental influencesPopulation-representative sampleLarge population-representative sampleSymptomsSpecific non-shared environmental influencesEnvironmental influencesFamilial associationSymptom subtypesEpidemiological sampleHyperactivity symptomsHyperactivityFamilial transmissionDisordersEtiological influencesLiability factorsFamily studiesGenetic liability
2008
Genes Controlling Affiliative Behavior as Candidate Genes for Autism
Yrigollen CM, Han SS, Kochetkova A, Babitz T, Chang JT, Volkmar FR, Leckman JF, Grigorenko EL. Genes Controlling Affiliative Behavior as Candidate Genes for Autism. Biological Psychiatry 2008, 63: 911-916. PMID: 18207134, PMCID: PMC2386897, DOI: 10.1016/j.biopsych.2007.11.015.Peer-Reviewed Original ResearchMeSH KeywordsAnalysis of VarianceAsperger SyndromeAutistic DisorderBehaviorChildDopamine beta-HydroxylaseFamily HealthFemaleGenetic LinkageGenetic Predisposition to DiseaseGenetic VariationGenotypeHumansMaleOrganizational AffiliationOxytocinProlactinProto-Oncogene Proteins c-fosReceptors, OxytocinReceptors, ProlactinConceptsHeterogeneous genetic factorsAllelic associationCandidate genesAssociation analysisGenetic linkageManifestation of ASDGenesGenetic variantsAllelic variantsFBAT softwareGenetic factorsComplex etiologyIndependent replicationNeurodevelopmental disordersOXTR geneAffiliative behaviorMultiple facetsVariantsPRLRPhenotypeHypothesis