2011
Rare Copy Number Variants in Tourette Syndrome Disrupt Genes in Histaminergic Pathways and Overlap with Autism
Fernandez TV, Sanders SJ, Yurkiewicz IR, Ercan-Sencicek AG, Kim YS, Fishman DO, Raubeson MJ, Song Y, Yasuno K, Ho WS, Bilguvar K, Glessner J, Chu SH, Leckman JF, King RA, Gilbert DL, Heiman GA, Tischfield JA, Hoekstra PJ, Devlin B, Hakonarson H, Mane SM, Günel M, State MW. Rare Copy Number Variants in Tourette Syndrome Disrupt Genes in Histaminergic Pathways and Overlap with Autism. Biological Psychiatry 2011, 71: 392-402. PMID: 22169095, PMCID: PMC3282144, DOI: 10.1016/j.biopsych.2011.09.034.Peer-Reviewed Original ResearchConceptsCopy number variationsRare copy number variationsNovel risk regionsEnrichment of genesGamma-aminobutyric acid receptor genesNervous system developmentEtiology of TSParent-child triosRare copy number variantsCopy number variantsGene mappingPathway analysisDe novo eventsAxon guidanceCell adhesionMolecular pathwaysNumber variationsRelevant pathwaysCNV analysisNumber variantsGenesReceptor geneDe novoNovo eventsPathway
2009
Autism spectrum and obsessive–compulsive disorders: OC behaviors, phenotypes and genetics
Jacob S, Landeros‐Weisenberger A, Leckman JF. Autism spectrum and obsessive–compulsive disorders: OC behaviors, phenotypes and genetics. Autism Research 2009, 2: 293-311. PMID: 20029829, PMCID: PMC3974607, DOI: 10.1002/aur.108.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsChildChild Development Disorders, PervasiveChild, PreschoolComorbidityDiagnosis, DifferentialDisease Models, AnimalDiseases in TwinsGenetic Association StudiesGenetic Predisposition to DiseaseGenotypeHumansInfantIntellectual DisabilityInterview, PsychologicalNeuropsychological TestsObsessive-Compulsive DisorderPhenotypeQuantitative Trait, HeritableStereotyped BehaviorConceptsAutism spectrum disorderObsessive-compulsive behaviorObsessive-compulsive disorderNovel treatment interventionsFamily genetic studiesAutism spectrumGeneralist genesOC behaviorSpectrum disorderRare genetic variantsASD variesHeritable endophenotypeASD phenotypeCandidate gene studiesNovel genomic technologiesNonparametric linkage analysisInnovative statistical approachChronological ageGenetic mechanismsGenomic technologiesTreatment interventionsGenetic analysisGenetic influencesLinkage analysisGene studies
1992
K-ABC profiles in children with fragile X syndrome, Down syndrome, and nonspecific mental retardation.
Hodapp RM, Leckman JF, Dykens EM, Sparrow SS, Zelinsky DG, Ort SI. K-ABC profiles in children with fragile X syndrome, Down syndrome, and nonspecific mental retardation. American Journal On Intellectual And Developmental Disabilities 1992, 97: 39-46. PMID: 1386742.Peer-Reviewed Original ResearchMeSH KeywordsAchievementChildChild, PreschoolDown SyndromeFragile X SyndromeHumansIntellectual DisabilityIntelligence TestsMalePsychometrics
1987
Strengths and weaknesses in the intellectual functioning of males with fragile X syndrome.
Dykens EM, Hodapp RM, Leckman JF. Strengths and weaknesses in the intellectual functioning of males with fragile X syndrome. American Journal On Intellectual And Developmental Disabilities 1987, 92: 234-6. PMID: 3434594.Peer-Reviewed Original ResearchMeSH KeywordsAchievementChildChild, PreschoolFragile X SyndromeHumansIntellectual DisabilityIntelligence TestsMalePsychometricsSex Chromosome AberrationsStanford-Binet TestConceptsShort-term memoryKaufman Assessment BatteryFragile X syndromePerceptual closureAchievement domainsArithmetic skillsIntellectual functioningAssessment BatteryX syndromeIntellectual strengthsSequential processingPrevious researchOverall levelMemoryFunctioningSkillsSignificant strengthImpairment