2021
A review of consensus statements, practice resources, standards and guidelines for clinical applications of next-generation sequencing technologies in the United States
Zhao C, Xie X, Ji W, Qi M, Zhou Q, Li M, Li P, Jiang Y, Zhang H. A review of consensus statements, practice resources, standards and guidelines for clinical applications of next-generation sequencing technologies in the United States. 中华医学遗传学杂志 2021, 38: 513-520. PMID: 34096016, DOI: 10.3760/cma.j.cn511374-20200924-00691.Peer-Reviewed Original ResearchPsychometric properties of the Chinese Parent Version of the Autism Spectrum Rating Scale: Rasch analysis
Yan W, Siegert RJ, Zhou H, Zou X, Wu L, Luo X, Li T, Huang Y, Guan H, Chen X, Mao M, Xia K, Zhang L, Li E, Li C, Zhang X, Zhou Y, Shih A, Fombonne E, Zheng Y, Han J, Sun Z, Jiang YH, Wang Y. Psychometric properties of the Chinese Parent Version of the Autism Spectrum Rating Scale: Rasch analysis. Autism 2021, 25: 1872-1884. PMID: 33845648, PMCID: PMC8548063, DOI: 10.1177/13623613211004054.Peer-Reviewed Original ResearchConceptsAutism Spectrum Rating ScaleAutism spectrum disorderSpectrum disorderRasch analysisRating ScaleBehavioral rating scalesIdentification of childrenParent versionRasch measurementPsychometric propertiesChinese childrenChildrenDisordersParentsSupport servicesScaleStringent criteriaItemsGrandparentsScientific measurementsQuestionnaireBehavior characteristicsTeachers
2020
Altered striatum centered brain structures in SHANK3 deficient Chinese children with genotype and phenotype profiling
Liu C, Li D, Yang H, Li H, Xu Q, Zhou B, Hu C, Li C, Wang Y, Qiao Z, Jiang YH, Xu X. Altered striatum centered brain structures in SHANK3 deficient Chinese children with genotype and phenotype profiling. Progress In Neurobiology 2020, 200: 101985. PMID: 33388374, PMCID: PMC8572121, DOI: 10.1016/j.pneurobio.2020.101985.Peer-Reviewed Original ResearchConceptsTract-based spatial statisticsVoxel-based morphometryUnderlying neuropathological mechanismsNeuropathological mechanismsDeficient childrenBrain structuresMiddle cerebral peduncleAutism spectrum disorderAbnormal neural circuitsPosterior thalamic radiationGray matter volumeFunctional connectivity studiesSuperior longitudinal fasciculusStudy of subjectsCerebral peduncleInternal capsuleRisk factorsDental abnormalitiesCorpus callosumCommissural fibersHematological problemsCorona radiataDorsal striatumNeurobehavioral evaluationAnteverted naresHigh 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 analysisVariantsTSC2GeneticsPrevalence of Autism Spectrum Disorder in China: A Nationwide Multi-center Population-based Study Among Children Aged 6 to 12 Years
Zhou H, Xu X, Yan W, Zou X, Wu L, Luo X, Li T, Huang Y, Guan H, Chen X, Mao M, Xia K, Zhang L, Li E, Ge X, Zhang L, Li C, Zhang X, Zhou Y, Ding D, Shih A, Fombonne E, Zheng Y, Han J, Sun Z, Jiang YH, Wang Y. Prevalence of Autism Spectrum Disorder in China: A Nationwide Multi-center Population-based Study Among Children Aged 6 to 12 Years. Neuroscience Bulletin 2020, 36: 961-971. PMID: 32607739, PMCID: PMC7475160, DOI: 10.1007/s12264-020-00530-6.Peer-Reviewed Original ResearchConceptsAutism spectrum disorderMulti-centre populationChildren Aged 6Chinese childrenASD casesFirst national estimatesNeuropsychiatric comorbiditiesTarget population samplePrevalence studyPrevalence ratesSpectrum disorderAged 6Response rateASD prevalence ratesOverall populationNational estimatesPrevalenceRating ScaleASD prevalenceComorbiditiesChildrenPopulation sampleTarget populationConvenient clusterDisorders
2018
Role of PUF60 gene in Verheij syndrome: a case report of the first Chinese Han patient with a de novo pathogenic variant and review of the literature
Xu Q, Li CY, Wang Y, Li HP, Wu BB, Jiang YH, Xu X. Role of PUF60 gene in Verheij syndrome: a case report of the first Chinese Han patient with a de novo pathogenic variant and review of the literature. BMC Medical Genomics 2018, 11: 92. PMID: 30352594, PMCID: PMC6199733, DOI: 10.1186/s12920-018-0421-3.Peer-Reviewed Original ResearchConceptsChinese Han patientsHan patientsNovo pathogenic variantsClinical whole exome sequencingDysmorphic facial featuresNovo nonsense variantWhole-exome sequencingRare microdeletion syndromeClinical featuresCase reportSpinal anomaliesPathogenic variantsRelated disordersGrowth retardationPUF60 geneConclusionsOur findingsSyndromeExome sequencingNonsense variantMicrodeletion syndromeIntellectual disabilityPatientsFunction mutationsPUF60Chromosome 8q24.3Genomic landscapes of Chinese sporadic autism spectrum disorders revealed by whole-genome sequencing
Wu J, Yu P, Jin X, Xu X, Li J, Li Z, Wang M, Wang T, Wu X, Jiang Y, Cai W, Mei J, Min Q, Xu Q, Zhou B, Guo H, Wang P, Zhou W, Hu Z, Li Y, Cai T, Wang Y, Xia K, Jiang YH, Sun ZS. Genomic landscapes of Chinese sporadic autism spectrum disorders revealed by whole-genome sequencing. Journal Of Genetics And Genomics 2018, 45: 527-538. PMID: 30392784, DOI: 10.1016/j.jgg.2018.09.002.Peer-Reviewed Original ResearchMeSH Keywords3' Untranslated RegionsAdolescentAdultAsian PeopleAutism Spectrum DisorderCell Cycle ProteinsChildChild, PreschoolChinaDNA Copy Number VariationsDNA-Binding ProteinsFemaleGenetic Predisposition to DiseaseHumansMaleMutationNerve Tissue ProteinsTranscription FactorsWhole Genome SequencingYoung AdultConceptsChromosomal rearrangement eventsDe novo chromosomal translocationsGenomic structural variantsNovo chromosomal translocationWhole genome sequencing datasetsFull genetic spectrumRare deleterious variantsChromosomal structure analysisHigh mutation rateSporadic autism spectrum disordersWhole-genome sequencingChromatin remodelingCentrosomal functionWhole genomeRare inherited mutationsDe novo mutationsRearrangement eventsSequencing datasetsDeleterious variantsGenomic variantsMutation rateStructural variantsGenomic landscapeNovo CNVsRisk genes
2017
Modifying the Autism Spectrum Rating Scale (6–18 years) to a Chinese Context: An Exploratory Factor Analysis
Zhou H, Zhang L, Luo X, Wu L, Zou X, Xia K, Wang Y, Xu X, Ge X, Jiang YH, Fombonne E, Yan W, Wang Y. Modifying the Autism Spectrum Rating Scale (6–18 years) to a Chinese Context: An Exploratory Factor Analysis. Neuroscience Bulletin 2017, 33: 175-182. PMID: 28238114, PMCID: PMC5360853, DOI: 10.1007/s12264-017-0104-7.Peer-Reviewed Original Research
2015
Validity and reliability analysis of the Chinese parent version of the Autism Spectrum Rating Scale (6–18 years)
Zhou H, Zhang L, Wu L, Zou X, Luo X, Xia K, Wang Y, Xu X, Ge X, Sun C, Deng H, Fombonne E, Jiang YH, Yan W, Wang Y. Validity and reliability analysis of the Chinese parent version of the Autism Spectrum Rating Scale (6–18 years). Psychiatry Research 2015, 230: 255-261. PMID: 26384573, DOI: 10.1016/j.psychres.2015.09.003.Peer-Reviewed Original ResearchConceptsParent versionRating ScaleCommunity-based subjectsClinic-based participantsChinese childrenAutism spectrum disorderTest-retest reliabilityReceiver Operating Characteristic (ROC) analysisOperating characteristics analysisTotal scoreSocial Responsiveness ScaleChinese versionSignificant differencesConcurrent validityValid toolSymptomsAutistic symptomsInternal consistencyConstruct validityCharacteristic analysisSpectrum disorderDiscriminant validity