2021
Whole-exome sequencing identifies genes associated with Tourette’s disorder in multiplex families
Cao X, Zhang Y, Abdulkadir M, Deng L, Fernandez TV, Garcia-Delgar B, Hagstrøm J, Hoekstra PJ, King RA, Koesterich J, Kuperman S, Morer A, Nasello C, Plessen KJ, Thackray JK, Zhou L, Dietrich A, Tischfield J, Heiman G, Xing J. Whole-exome sequencing identifies genes associated with Tourette’s disorder in multiplex families. Molecular Psychiatry 2021, 26: 6937-6951. PMID: 33837273, PMCID: PMC8501157, DOI: 10.1038/s41380-021-01094-1.Peer-Reviewed Original ResearchConceptsCandidate genesProtein-protein interaction networkGene ontology categoriesHigh-throughput sequencingStrong candidate geneCandidate gene expressionFamily member 1Heritable neurodevelopmental disorderIdentifies genesNovel genesOntology categoriesNeurodevelopmental disordersMultiplex familiesInteraction networksPolygenic natureBiological insightsGene expressionFunction predictionWhole-exome sequencingGenesGenetic variantsSegregation patternsGenetic heterogeneitySegregation informationMember 1
2016
Whole-exome sequencing in obsessive-compulsive disorder identifies rare mutations in immunological and neurodevelopmental pathways
Cappi C, Brentani H, Lima L, Sanders SJ, Zai G, Diniz BJ, Reis VN, Hounie AG, Conceição do Rosário M, Mariani D, Requena GL, Puga R, Souza-Duran FL, Shavitt RG, Pauls DL, Miguel EC, Fernandez TV. Whole-exome sequencing in obsessive-compulsive disorder identifies rare mutations in immunological and neurodevelopmental pathways. Translational Psychiatry 2016, 6: e764-e764. PMID: 27023170, PMCID: PMC4872454, DOI: 10.1038/tp.2016.30.Peer-Reviewed Original ResearchConceptsSingle nucleotide variantsPPI networkPathway analysisProtein-protein interaction networkGenome-wide association studiesNovo single nucleotide variantsParticular biological pathwaysRare genetic variationDisease gene prioritizationDirect molecular interactionWhole-exome sequencing studiesGene discoveryNetwork genesSpecific risk genesNetwork enrichmentGenetic variationInteraction networksGene prioritizationCandidate genesAssociation studiesBiological pathwaysSequencing platformsSequencing studiesWhole-exome sequencingGenes
2000
Premorbid Speech and Language Impairments in Childhood-Onset Schizophrenia: Association With Risk Factors
Nicolson R, Lenane M, Singaracharlu S, Malaspina D, Giedd JN, Hamburger SD, Gochman P, Bedwell J, Thaker GK, Fernandez T, Wudarsky M, Hommer DW, Rapoport JL. Premorbid Speech and Language Impairments in Childhood-Onset Schizophrenia: Association With Risk Factors. American Journal Of Psychiatry 2000, 157: 794-800. PMID: 10784474, DOI: 10.1176/appi.ajp.157.5.794.Peer-Reviewed Original ResearchConceptsChildhood-onset schizophreniaRisk factorsSchizophrenia spectrum disordersObstetrical complicationsMotor abnormalitiesDevelopmental impairmentMore obstetrical complicationsSmooth pursuit eye movementsChildhood-onset casesPathophysiology of schizophreniaEye-tracking dysfunctionLanguage-related brain regionsFamilial loading scoresFamilial risk factorsSocial impairmentNeurodevelopmental impairmentPremorbid abnormalitiesSpectrum disorderFamilial loadingPatientsLanguage impairmentBrain regionsSchizophreniaImpairmentAbnormalities
1999
Clinical and Neurobiological Correlates of Cytogenetic Abnormalities in Childhood-Onset Schizophrenia
Nicolson R, Giedd JN, Lenane M, Hamburger S, Singaracharlu S, Bedwell J, Fernandez T, Thaker GK, Malaspina D, Rapoport JL. Clinical and Neurobiological Correlates of Cytogenetic Abnormalities in Childhood-Onset Schizophrenia. American Journal Of Psychiatry 1999, 156: 1575-1579. PMID: 10518169, DOI: 10.1176/ajp.156.10.1575.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAge of OnsetBrainBrief Psychiatric Rating ScaleCerebral VentriclesChildChromosome AberrationsChromosome DeletionDevelopmental DisabilitiesFamilyFemaleHippocampusHumansIntelligence TestsMagnetic Resonance ImagingMalePrevalencePsychiatric Status Rating ScalesRisk FactorsSchizophreniaSchizophrenic PsychologyConceptsChildhood-onset schizophreniaCytogenetic abnormalitiesCytogenetic anomaliesEye tracking dysfunctionSubgroup of patientsChromosome 22q11 deletionNeurobiological correlatesRisk factor measuresSchizophrenia spectrum disordersObstetric complicationsGroup of childrenEtiologic contributionPathophysiologic roleChildhood onsetFragile X testingLower performance IQPatientsGreater impairmentAbnormalitiesDevelopmental impairmentEarly onsetChromosomal abnormalitiesSchizophreniaEarly ageImpairmentObstetrical Complications and Childhood-Onset Schizophrenia
Nicolson R, Malaspina D, Giedd JN, Hamburger S, Lenane M, Bedwell J, Fernandez T, Berman A, Susser E, Rapoport JL. Obstetrical Complications and Childhood-Onset Schizophrenia. American Journal Of Psychiatry 1999, 156: 1650-1652. PMID: 10518182, DOI: 10.1176/ajp.156.10.1650.Peer-Reviewed Original Research