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 analysisVariantsTSC2Genetics
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