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
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
2003
Disruption of the genomic imprint in trans with homologous recombination at Snrpn in ES cells
Tsai T, Bressler J, Jiang Y, Beaudet AL. Disruption of the genomic imprint in trans with homologous recombination at Snrpn in ES cells. Genesis 2003, 37: 151-161. PMID: 14666508, DOI: 10.1002/gene.10237.Peer-Reviewed Original ResearchConceptsPaternal alleleImprinting centerMaternal alleleSomatic mammalian cellsTrans-acting factorsActivation of expressionSNURF-SNRPN geneMouse ES cellsChromatin domainsGenomic imprintsImprinted domainMammalian cellsHomologous recombinationGene targetingHomologous associationES cellsComplete demethylationSNURF-SNRPNPrader-Willi syndromeExon 2AllelesGenesRecombinantsCellsDomain