2017
Genetic Variants Identified from Epilepsy of Unknown Etiology in Chinese Children by Targeted Exome Sequencing
Wang Y, Du X, Bin R, Yu S, Xia Z, Zheng G, Zhong J, Zhang Y, Jiang YH, Wang Y. Genetic Variants Identified from Epilepsy of Unknown Etiology in Chinese Children by Targeted Exome Sequencing. Scientific Reports 2017, 7: 40319. PMID: 28074849, PMCID: PMC5225856, DOI: 10.1038/srep40319.Peer-Reviewed Original ResearchConceptsNGS panelCaucasian childrenEtiology of epilepsyLikely pathogenic variantsTargeted exome sequencingGenetic variantsSingle nucleotide variantsUnknown etiologyEpilepsy patientsSpecific treatmentEpilepsyEpilepsy disordersPathogenic variantsPathologic variantsGenetic susceptibilityEpilepsy genesExome sequencingEtiologyGenetic factorsEpilepsy familiesChinese childrenCandidate genesClinicNovel candidate genesChildren
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