2024
Patterns of Cytogenomic Findings from a Case Series of Recurrent Pregnancy Loss Provide Insight into the Extent of Genetic Defects Causing Miscarriages
DiAdamo A, Chai H, Chong M, Wang G, Wen J, Jiang Y, Li P. Patterns of Cytogenomic Findings from a Case Series of Recurrent Pregnancy Loss Provide Insight into the Extent of Genetic Defects Causing Miscarriages. Global Medical Genetics 2024, 11: 123-131. PMID: 38560483, PMCID: PMC10980555, DOI: 10.1055/s-0044-1785227.Peer-Reviewed Original ResearchRecurrent pregnancy lossProducts of conceptionAbnormal karyotypeConsecutive miscarriagesCase seriesCytogenomic abnormalitiesCA groupCytogenomic findingsRoutine cytogenetic analysisCopy number variantsMonosomy XNormal karyotypeRetrospective studyPregnancy lossCytogenetic analysisPathogenic variantsMiscarriageSA groupAneuploidyKaryotypeLethal variantWomenAbnormalitiesGenome sequenceAbstract Background
2023
Estimation on risk of spontaneous abortions by genomic disorders from a meta‐analysis of microarray results on large case series of pregnancy losses
Peng G, Zhou Q, Chai H, Wen J, Zhao H, Taylor H, Jiang Y, Li P. Estimation on risk of spontaneous abortions by genomic disorders from a meta‐analysis of microarray results on large case series of pregnancy losses. Molecular Genetics & Genomic Medicine 2023, 11: e2181. PMID: 37013615, PMCID: PMC10422064, DOI: 10.1002/mgg3.2181.Peer-Reviewed Original ResearchConceptsGenomic disordersChromosome microarray analysisWilliams-Beuren syndromePathogenic copy number variantsPopulation genetic studiesWolf-Hirschhorn syndromeCopy number variantsDiGeorge syndromeMicroarray analysisMicroarray resultsChromosomal abnormalitiesGenetic studiesNumber variantsGenetic counseling
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 mutationsA genomic copy number variant analysis implicates the MBD5 and HNRNPUgenes in Chinese children with infantile spasms and expands the clinical spectrum of 2q23.1 deletion
Du X, An Y, Yu L, Liu R, Qin Y, Guo X, Sun D, Zhou S, Wu B, Jiang YH, Wang Y. A genomic copy number variant analysis implicates the MBD5 and HNRNPUgenes in Chinese children with infantile spasms and expands the clinical spectrum of 2q23.1 deletion. BMC Medical Genomics 2014, 15: 62. PMID: 24885232, PMCID: PMC4061518, DOI: 10.1186/1471-2350-15-62.Peer-Reviewed Original ResearchMeSH Keywords1-Alkyl-2-acetylglycerophosphocholine EsteraseAge of OnsetBrainChild, PreschoolChromosome DeletionChromosomes, Human, Pair 1Chromosomes, Human, Pair 17Chromosomes, Human, Pair 2DNA Copy Number VariationsDNA-Binding ProteinsFaciesFemaleFoot Deformities, CongenitalHand Deformities, CongenitalHeterogeneous-Nuclear RibonucleoproteinsHumansInfantInfant, NewbornMagnetic Resonance ImagingMaleMicrotubule-Associated ProteinsPhenotypeSpasms, InfantileConceptsInfantile spasmsEpileptic encephalopathyChinese childrenCNV lossDistinct clinical presentationsCopy number variantsPathogenicity of CNVsAutism spectrum disorderCausative genesMajority of casesWhole-exome sequencingRole of CNVsGeneralized seizuresClinical featuresClinical presentationClinical spectrumPrimary diagnosisSevere developmental disabilitiesSpasmConclusionOur findingsMBD5 geneReal-time qPCRExome sequencingGenetic factorsDifferent ethnic backgrounds