2021
Exome Sequencing Analysis on Products of Conception: A Cohort Study to Evaluate Clinical Utility and Genetic Etiology for Pregnancy Loss
Zhao C, Chai H, Zhou Q, Wen J, Reddy U, Kastury R, Jiang Y, Mak W, Bale A, Zhang H, Li P. Exome Sequencing Analysis on Products of Conception: A Cohort Study to Evaluate Clinical Utility and Genetic Etiology for Pregnancy Loss. Obstetrical & Gynecological Survey 2021, 76: 468-469. DOI: 10.1097/01.ogx.0000791680.43228.b1.Peer-Reviewed Original Research
2020
High genetic burden in 163 Chinese children with status epilepticus
Wang T, Wang J, Ma Y, Zhou H, Ding D, Li C, Du X, Jiang YH, Wang Y, Long S, Li S, Lu G, Chen W, Zhou Y, Zhou S, Wang Y. High genetic burden in 163 Chinese children with status epilepticus. Seizure 2020, 84: 40-46. PMID: 33278787, DOI: 10.1016/j.seizure.2020.10.032.Peer-Reviewed Original ResearchConceptsNon-genetic aetiologyGenetic etiologyMonogenic mutationsNumber variation analysisMolecular dataSingle geneNext-generation sequencingGene mutationsPathogenic genetic variantsUncertain significance variantsCausative variantsGenetic variantsMutationsDe novoGenetic burdenStatus epilepticusGenetic testing methodsHigher genetic burdenGenesMedical GeneticsMonogenic variantsVariation analysisVariantsTSC2GeneticsExome sequencing analysis on products of conception: a cohort study to evaluate clinical utility and genetic etiology for pregnancy loss
Zhao C, Chai H, Zhou Q, Wen J, Reddy UM, Kastury R, Jiang Y, Mak W, Bale AE, Zhang H, Li P. Exome sequencing analysis on products of conception: a cohort study to evaluate clinical utility and genetic etiology for pregnancy loss. Genetics In Medicine 2020, 23: 435-442. PMID: 33100332, DOI: 10.1038/s41436-020-01008-6.Peer-Reviewed Original ResearchConceptsProducts of conceptionAbnormality detection rateLikely pathogenic variantsSpontaneous abortionPregnancy lossPathogenic variantsExome sequencingClinical utilityGenetic etiologyExome sequencing analysisPathogenic copy number variantsCohort studyFetal deathRenal diseaseMethodsA cohortSubsequent pregnancyCardiac anomaliesMonogenic etiologyMetabolic disordersRecurrence riskMultisystem abnormalitiesDiagnostic valueConclusionThese resultsMonogenic causesStillbirth
2015
Genetics of Autism Spectrum Disorders: The Opportunity and Challenge in the Genetics Clinic
Wang Y, Wang P, Xu X, Goldstein J, McConkie A, Cheung S, Jiang Y. Genetics of Autism Spectrum Disorders: The Opportunity and Challenge in the Genetics Clinic. Contemporary Clinical Neuroscience 2015, 33-66. DOI: 10.1007/978-1-4939-2190-4_4.Peer-Reviewed Original ResearchSingle nucleotide variantsCopy number variantsPenetrant copy number variantsNumber variantsASD genetic studiesGenome-wide copy number variantsGenetic etiologySyndromic autism spectrum disordersSingle geneSingle-gene testsGenetic studiesSequence analysisWhole-exome sequencingGenetic evaluationNucleotide variantsPleiotropic effectsNon-genetic factorsGenetic variantsClinical genetic evaluationEnvironment interactionMultiple gene panelsExome sequencingASD etiologyGenetic causeIncomplete penetrance
2014
Genetic diagnosis of autism spectrum disorders: The opportunity and challenge in the genomics era
Jiang YH, Wang Y, Xiu X, Choy KW, Pursley AN, Cheung SW. Genetic diagnosis of autism spectrum disorders: The opportunity and challenge in the genomics era. Critical Reviews In Clinical Laboratory Sciences 2014, 51: 249-262. PMID: 24878448, PMCID: PMC5937018, DOI: 10.3109/10408363.2014.910747.Peer-Reviewed Original ResearchConceptsSingle nucleotide variantsCopy number variantsGenetics of ASDPenetrant copy number variantsNumber variantsGenome-wide copy number variantsGenetic etiologySyndromic autism spectrum disordersGenomic eraSingle-gene testsSequence analysisWhole-exome sequencingGenetic evaluationNucleotide variantsPleiotropic effectsGenetic variantsClinical genetic evaluationMultiple gene panelsExome sequencingGenetic causeIncomplete penetranceNumber analysisMolecular diagnostic assaysVariable expressivityGene mutations
2012
Mutations of ANK3 identified by exome sequencing are associated with autism susceptibility
Bi C, Wu J, Jiang T, Liu Q, Cai W, Yu P, Cai T, Zhao M, Jiang Y, Sun ZS. Mutations of ANK3 identified by exome sequencing are associated with autism susceptibility. Human Mutation 2012, 33: 1635-1638. PMID: 22865819, DOI: 10.1002/humu.22174.Peer-Reviewed Original ResearchConceptsExtensive bioinformatics analysisNext-generation sequencing technologiesExtreme genetic heterogeneityStrong genetic etiologyGene discoveryWhole-exome sequencesDifferent missense mutationsBioinformatics analysisSequencing technologiesAutism susceptibilityMissense mutationsANK3Genetic heterogeneityMutationsNovo mutationsExome sequencingMolecular pathophysiologyGenetic causeGenetic etiologyASD susceptibilitySynaptic functionNovel mutationsNeurodevelopmental disordersGenesSequencing