2017
The PNKD gene is associated with Tourette Disorder or Tic disorder in a multiplex family
Sun N, Nasello C, Deng L, Wang N, Zhang Y, Xu Z, Song Z, Kwan K, King R, Pang Z, Xing J, Heiman G, Tischfield J. The PNKD gene is associated with Tourette Disorder or Tic disorder in a multiplex family. Molecular Psychiatry 2017, 23: 1487-1495. PMID: 28894297, PMCID: PMC5847395, DOI: 10.1038/mp.2017.179.Peer-Reviewed Original ResearchConceptsNonsense-mediated mRNA decayNonsense mutationMultiplex familiesPluripotent stem cellsTD phenotypeDeleterious sequence variantsGenetic architectureMRNA decayHouse bioinformatics pipelineDNA sequencesBioinformatics pipelineTD familyWhole-exome sequencingSequence variantsBiochemical assaysMolecular differencesWhole exomeIsoform levelsStem cellsProtein levelsTD etiologyExome sequencingPNKDHeterozygous nonsense mutationGenesGenetic and phenotypic overlap of specific obsessive-compulsive and attention-deficit/hyperactive subtypes with Tourette syndrome
Hirschtritt M, Darrow S, Illmann C, Osiecki L, Grados M, Sandor P, Dion Y, King R, Pauls D, Budman C, Cath D, Greenberg E, Lyon G, Yu D, McGrath L, McMahon W, Lee P, Delucchi K, Scharf J, Mathews C. Genetic and phenotypic overlap of specific obsessive-compulsive and attention-deficit/hyperactive subtypes with Tourette syndrome. Psychological Medicine 2017, 48: 279-293. PMID: 28651666, PMCID: PMC7909616, DOI: 10.1017/s0033291717001672.Peer-Reviewed Original ResearchConceptsAttention-deficit/hyperactivity disorderSymmetry/exactnessTourette syndromeLatent class analysisSymptom patternsADHD symptomsHigher psychiatric comorbidity ratesPsychiatric comorbidity ratesExploratory factor analysisHyperactive subtypeComorbidity ratesTS patientsClinical relevanceSpecific subtypesSum scoreUnique phenotypicHyperactivity disorderSymptomsPhenotypic overlapThree-class solutionTraditional diagnostic boundariesAggressive urgesSyndromeSubtypesDiagnostic boundaries
2001
Case control and family‐based studies of tryptophan hydroxylase gene A218C polymorphism and suicidality in adolescents
Zalsman G, Frisch A, King R, Pauls D, Grice D, Gelernter J, Alsobrook J, Michaelovsky E, Apter A, Tyano S, Weizman A, Leckman J. Case control and family‐based studies of tryptophan hydroxylase gene A218C polymorphism and suicidality in adolescents. American Journal Of Medical Genetics 2001, 105: 451-457. PMID: 11449398, DOI: 10.1002/ajmg.1406.Peer-Reviewed Original ResearchConceptsSuicidal behaviorSuicide riskA218C polymorphismDetailed clinical historyHaplotype relative riskAssociation of suicidalityTransmission disequilibrium test (TDT) methodsTryptophan hydroxylase geneAdolescent suicidal behaviorClinical historySame ethnic populationRelative riskCase controlAA genotypeControl groupFamily-based studySuicide intentSignificant allelic associationSignificant differencesEthnic populationsStructured interviewsInpatient adolescentsRiskAssociationSuicidality