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
2018
Autism-associated CHD8 deficiency impairs axon development and migration of cortical neurons
Xu Q, Liu YY, Wang X, Tan GH, Li HP, Hulbert SW, Li CY, Hu CC, Xiong ZQ, Xu X, Jiang YH. Autism-associated CHD8 deficiency impairs axon development and migration of cortical neurons. Molecular Autism 2018, 9: 65. PMID: 30574290, PMCID: PMC6299922, DOI: 10.1186/s13229-018-0244-2.Peer-Reviewed Original ResearchConceptsCHD8 deficiencyNeuronal migrationChromodomain helicase DNAMouse brainChromatin structureTranscriptional regulatorsParvalbumin-positive neuronsHistone H1Autism spectrum disorderGenetic studiesCHD8Protein 8Functional consequencesNovel insightsBiochemical analysisContralateral cortexSitu hybridizationCortical neuronsCommon findingUtero electroporationGlia cellsNeuronal culturesAxon projectionsDeficiency impairsCircuit mechanisms
2017
A Presynaptic Function of Shank Protein in Drosophila
Wu S, Gan G, Zhang Z, Sun J, Wang Q, Gao Z, Li M, Jin S, Huang J, Thomas U, Jiang YH, Li Y, Tian R, Zhang YQ. A Presynaptic Function of Shank Protein in Drosophila. Journal Of Neuroscience 2017, 37: 11592-11604. PMID: 29074576, PMCID: PMC6705749, DOI: 10.1523/jneurosci.0893-17.2017.Peer-Reviewed Original ResearchConceptsSynapse developmentMushroom bodiesPresynaptic functionHuman genetic studiesPostsynaptic densityPSD scaffold proteinsPeripheral neuromuscular junctionsNull mutantsMushroom body calyxScaffold proteinFamily genesFamily proteinsExpression analysisDevelopmental defectsShank proteinsGenetic studiesShank familyCalyx structureFunction mutationsOnly memberIdiopathic autism spectrum disorderSynaptic roleNovel insightsProteinDrosophila
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
2013
Modeling Autism by SHANK Gene Mutations in Mice
Jiang YH, Ehlers MD. Modeling Autism by SHANK Gene Mutations in Mice. Neuron 2013, 78: 8-27. PMID: 23583105, PMCID: PMC3659167, DOI: 10.1016/j.neuron.2013.03.016.Peer-Reviewed Original ResearchConceptsSHANK mutationsRecent human genetic studiesSHANK family genesHuman genetic studiesPostsynaptic densityPathophysiology of ASDProtein complexesConserved featuresFamily genesFamily proteinsGene productsDivergent phenotypesSame geneExcitatory glutamatergic synapsesMolecular diversityHuman autism spectrum disorderMouse mutantsMolecular geneticsGenetic studiesMouse phenotypeSynaptic dysfunctionIdiopathic autism spectrum disorderSuch mutationsCausative genesGenes