2022
Disrupted Topological Organization of White Matter Network in Angelman Syndrome
Wei L, Du X, Yang Z, Ding M, Yang B, Wang J, Long S, Qiao Z, Jiang Y, Wang Y, Wang H. Disrupted Topological Organization of White Matter Network in Angelman Syndrome. Journal Of Magnetic Resonance Imaging 2022, 57: 1212-1221. PMID: 35856797, DOI: 10.1002/jmri.28360.Peer-Reviewed Original ResearchDetecting regions of homozygosity improves the diagnosis of pathogenic variants and uniparental disomy in pediatric patients
Wen J, Chai H, Grommisch B, DiAdamo A, Dykas D, Ma D, Popa A, Zhao C, Spencer‐Manzon M, Jiang Y, McGrath J, Li P, Bale A, Zhang H. Detecting regions of homozygosity improves the diagnosis of pathogenic variants and uniparental disomy in pediatric patients. American Journal Of Medical Genetics Part A 2022, 188: 1728-1738. PMID: 35199448, DOI: 10.1002/ajmg.a.62693.Peer-Reviewed Original ResearchConceptsPediatric patientsWhole-exome sequencingCase seriesAR diseasesPathogenic variantsLarge consecutive case seriesConsecutive case seriesLarge case seriesUniparental disomyLikely pathogenic variantsRegions of homozygosityChromosomal microarray analysisAutosomal recessive diseasePrader-Willi syndromeDiagnostic findingsDiagnostic yieldPatientsPredictive valueGenetic testingHomozygous variantDiseaseExome sequencingRecessive diseaseGenetic counselingStrongest predictor
2021
Severe multisystem pathology, metabolic acidosis, mitochondrial dysfunction, and early death associated with an X-linked AIFM1 variant
Moss T, May M, Flanagan-Steet H, Caylor R, Jiang YH, McDonald M, Friez M, McConkie-Rosell A, Steet R. Severe multisystem pathology, metabolic acidosis, mitochondrial dysfunction, and early death associated with an X-linked AIFM1 variant. Molecular Case Studies 2021, 7: a006081. PMID: 34117073, PMCID: PMC8208043, DOI: 10.1101/mcs.a006081.Peer-Reviewed Original ResearchConceptsMitochondrial flavin adenine dinucleotideCaspase-independent typeRespiratory complex assemblyFunctional studiesApoptosis inducer staurosporineGalactose-containing mediumNicotinamide adenine dinucleotide (phosphate) oxidoreductaseApoptotic stimuliSteady-state levelsComplex assemblyGene productsReactive oxygen speciesMitochondrial deficiencyTissue-specific effectsNuclear condensationFlavin adenine dinucleotideReduced abundanceMitochondrial complexesComplex IPyruvate dehydrogenaseMitochondrial dysfunctionPatient cellsExome sequencingOxygen speciesElevated sensitivityPsychometric 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
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 analysisVariantsTSC2GeneticsThe role of Hipk2-p53 pathways in arsenic-induced autistic behaviors: A translational study from rats to humans
Zhou H, Lin Y, Zhao W, Teng Y, Cui Y, Wang T, Li C, Jiang YH, Zhang JJ, Wang Y. The role of Hipk2-p53 pathways in arsenic-induced autistic behaviors: A translational study from rats to humans. Environmental Pollution 2020, 267: 115568. PMID: 33254717, DOI: 10.1016/j.envpol.2020.115568.Peer-Reviewed Original ResearchConceptsCase-control studySerum levelsArsenic exposureHealthy controlsNeuronal apoptosisFrontal cortexAge-matched healthy controlsGestational arsenic exposureHuman case-control studiesASD developmentHigher serum levelsAutistic behaviorASD childrenDose-dependent mannerAutism spectrum disorderPotential mediating pathwaysRat modelRat pupsKey molecular changesImmunohistochemistry analysisTranslational studiesWestern blottingMolecular changesTranslational strategiesMediating pathwaysPrevalence 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 clusterDisordersSubacute Neuropsychiatric Syndrome in Girls With SHANK3 Mutations Responds to Immunomodulation
Bey AL, Gorman MP, Gallentine W, Kohlenberg TM, Frankovich J, Jiang YH, Van Haren K. Subacute Neuropsychiatric Syndrome in Girls With SHANK3 Mutations Responds to Immunomodulation. Pediatrics 2020, 145: e20191490. PMID: 32015180, PMCID: PMC7802010, DOI: 10.1542/peds.2019-1490.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAggressionAntipsychotic AgentsAnxietyAutism Spectrum DisorderCatatoniaChildCompulsive BehaviorCryingDevelopmental DisabilitiesFemaleFrameshift MutationHallucinationsHumansImmunoglobulins, IntravenousImmunosuppressive AgentsImmunotherapyIrritable MoodMethylprednisoloneMutismNerve Tissue ProteinsNeuroprotective AgentsObsessive-Compulsive DisorderRecurrenceSelf CareSleep Initiation and Maintenance DisordersStereotyped BehaviorSyndromeUrinary IncontinenceUrinary RetentionConceptsClinical observationsChronic relapsing coursePeriod of treatmentYears of ageImmunomodulatory treatmentUrinary retentionRelapsing courseNeurologic regressionCase seriesAntipsychotic medicationNeuropsychiatric syndromeMood disordersImmune functionObsessive-compulsive behaviorRare monogenic disordersNeurobehavioral syndromeTranslational investigationsPremorbid levelSHANK3 mutationsPatientsHormonal stimuliMonogenic disordersResponsive phenotypeDevelopmental disabilitiesSyndrome
2019
De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies
Holt RJ, Young RM, Crespo B, Ceroni F, Curry CJ, Bellacchio E, Bax DA, Ciolfi A, Simon M, Fagerberg CR, van Binsbergen E, De Luca A, Memo L, Dobyns WB, Mohammed AA, Clokie SJH, Seco C, Jiang YH, Sørensen KP, Andersen H, Sullivan J, Powis Z, Chassevent A, Smith-Hicks C, Petrovski S, Antoniadi T, Shashi V, Gelb BD, Wilson SW, Gerrelli D, Tartaglia M, Chassaing N, Calvas P, Ragge NK. De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies. American Journal Of Human Genetics 2019, 105: 640-657. PMID: 31402090, PMCID: PMC6731360, DOI: 10.1016/j.ajhg.2019.07.005.Peer-Reviewed Original ResearchConceptsF-box (SCF) ubiquitin ligase complexF-box proteinsMultiple developmental processesPectoral fin developmentSubstrate-binding domainUbiquitin ligase complexGli transcription factorsHuman developmental disordersSecond-generation sequencingDe novo missense variantsWhole-genome sequencingSkp1-CullinDevelopmental phenotypesLigase complexFin developmentResidue clustersTranscription factorsProteasomal degradationEye developmentNovo missense variantsDevelopmental processesFBXW11Genome sequencingEmbryonic tissuesUnderdeveloped eyes
2018
Genomic 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 genesA comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative
Shashi V, Schoch K, Spillmann R, Cope H, Tan Q, Walley N, Pena L, McConkie-Rosell A, Jiang YH, Stong N, Need AC, Goldstein DB. A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative. Genetics In Medicine 2018, 21: 161-172. PMID: 29907797, PMCID: PMC6295275, DOI: 10.1038/s41436-018-0044-2.Peer-Reviewed Original ResearchEpigenetics and autism spectrum disorder: A report of an autism case with mutation in H1 linker histone HIST1H1E and literature review
Duffney LJ, Valdez P, Tremblay MW, Cao X, Montgomery S, McConkie‐Rosell A, Jiang Y. Epigenetics and autism spectrum disorder: A report of an autism case with mutation in H1 linker histone HIST1H1E and literature review. American Journal Of Medical Genetics Part B Neuropsychiatric Genetics 2018, 177: 426-433. PMID: 29704315, PMCID: PMC5980735, DOI: 10.1002/ajmg.b.32631.Peer-Reviewed Original ResearchConceptsLinker proteinH1 linker histonesLinker histone proteinFamily member EChromatin organizationEpigenetic machineryHistone proteinsEpigenetic regulationLinker histonesNucleosome packagingLoss of functionDeleterious mutationsCandidate genesExpression studiesHistone writersWhole-exome sequencingHuman diseasesGenesProteinMutationsProtein expressionExome sequencingGenetic mutationsMember EHIST1H1EPsychosocial Profiles of Parents of Children with Undiagnosed Diseases: Managing Well or Just Managing?
McConkie‐Rosell A, Hooper SR, Pena LDM, Schoch K, Spillmann RC, Jiang Y, Cope H, Network U, Palmer C, Shashi V. Psychosocial Profiles of Parents of Children with Undiagnosed Diseases: Managing Well or Just Managing? Journal Of Genetic Counseling 2018, 27: 935-946. PMID: 29297108, PMCID: PMC6028305, DOI: 10.1007/s10897-017-0193-5.Peer-Reviewed Original ResearchConceptsPsychosocial profileHealth care empowermentPsychological needsParents’ psychological needsHigh emotional costParents of childrenAnxiety symptomsEmotional costsUndiagnosed childrenOlder childrenGender differencesParentsUndiagnosed diseaseClinical sitesAnxietyChildrenUndiagnosed Diseases NetworkDegree toleranceHealth care engagementDepressionChronic illnessCare engagementClinical evaluationMedical findingsEmpowerment
2017
Does age affect response to quinidine in patients with KCNT1 mutations? Report of three new cases and review of the literature
Abdelnour E, Gallentine W, McDonald M, Sachdev M, Jiang YH, Mikati MA. Does age affect response to quinidine in patients with KCNT1 mutations? Report of three new cases and review of the literature. Seizure 2017, 55: 1-3. PMID: 29291456, DOI: 10.1016/j.seizure.2017.11.017.Peer-Reviewed Original ResearchConceptsKCNT1 mutationsEpilepsy of infancyRetrospective chart reviewPotassium channel blockerYears of agePotential therapeutic agentFunction mutationsMigrating Focal SeizuresKCNT1 gainKCNT1 geneQuinidine initiationChart reviewRefractory seizuresSeizure frequencyQuinidine therapySeizure responseSeizure typesFocal seizuresEpilepsy syndromesVideo-EEGChannel blockersNew casesTherapeutic agentsPatientsAdditional childrenLooking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases
Pena LDM, Jiang YH, Schoch K, Spillmann RC, Walley N, Stong N, Rapisardo Horn S, Sullivan JA, McConkie-Rosell A, Kansagra S, Smith EC, El-Dairi M, Bellet J, Keels MA, Jasien J, Kranz PG, Noel R, Nagaraj SK, Lark RK, Wechsler DSG, del Gaudio D, Leung ML, Hendon LG, Parker CC, Jones KL, Goldstein D, Shashi V. Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases. Genetics In Medicine 2017, 20: 464-469. PMID: 28914269, PMCID: PMC5851806, DOI: 10.1038/gim.2017.128.Peer-Reviewed Original ResearchConceptsWhole-exome sequencingMagnetic resonance image changesPathogenic variantsSanger sequencingPhenotype-first approachFurther diagnostic testingNew clinical findingsInfantile neuroaxonal dystrophyHeterozygous pathogenic variantsInfantile systemic hyalinosisSingle-gene testingClinical suspicionClinical findingsConclusionThese casesCerebellar atrophyWhite matter leukoencephalopathyNeuroaxonal dystrophyProgressive ataxiaMolecular testingSystemic hyalinosisNGS testingNovel homozygous deletionUndiagnosed diseaseClinical diagnosisDiagnostic testingNovel clinical manifestations in patients with KCNA2 mutations
Sachdev M, Gaínza-Lein M, Tchapyjnikov D, Jiang YH, Loddenkemper T, Mikati MA. Novel clinical manifestations in patients with KCNA2 mutations. Seizure 2017, 51: 74-76. PMID: 28806589, DOI: 10.1016/j.seizure.2017.07.018.Peer-Reviewed Original ResearchConceptsGeneralized tonic-clonic seizuresTonic-clonic seizuresElectrical status epilepticusNovel clinical manifestationYear old maleStatus epilepticusKCNA2 mutationsClonic seizuresClinical manifestationsMyoclonic-astatic seizuresStatus epilepticus episodesYear old femaleYears of ageAstatic seizuresSeizure typesEpileptic manifestationsFocal seizuresPatient 1Patient 2Patient 3Clinical criteriaSevere manifestationsEpileptic encephalopathyBlood samplesPatientsModifying 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 ResearchChinese Norms for the Autism Spectrum Rating Scale
Zhou H, Zhang L, Zou X, Luo X, Xia K, Wu L, Wang Y, Xu X, Ge X, Jiang YH, Fombonne E, Yan W, Wang Y. Chinese Norms for the Autism Spectrum Rating Scale. Neuroscience Bulletin 2017, 33: 161-167. PMID: 28233147, PMCID: PMC5360852, DOI: 10.1007/s12264-017-0105-6.Peer-Reviewed Original ResearchGenetic 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
2016
Chromosomal microarray analysis in clinical evaluation of neurodevelopmental disorders-reporting a novel deletion of SETDB1 and illustration of counseling challenge
Xu Q, Goldstein J, Wang P, Gadi IK, Labreche H, Rehder C, Wang WP, McConkie A, Xu X, Jiang YH. Chromosomal microarray analysis in clinical evaluation of neurodevelopmental disorders-reporting a novel deletion of SETDB1 and illustration of counseling challenge. Pediatric Research 2016, 80: 371-381. PMID: 27119313, PMCID: PMC5382808, DOI: 10.1038/pr.2016.101.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAlgorithmsAutistic DisorderChildChild, PreschoolChromatinComparative Genomic HybridizationCounselingDevelopmental DisabilitiesDNA Copy Number VariationsFemaleGene DeletionGene RearrangementHistone-Lysine N-MethyltransferaseHumansInfantIntellectual DisabilityMaleMicroarray AnalysisNeurodevelopmental DisordersPedigreeProtein MethyltransferasesConceptsNeurodevelopmental disordersAutism spectrum disorderIntellectual disabilityDevelopmental disabilitiesCopy number variationsChromosomal microarray analysisEtiological evaluationClinical evaluationClinical significanceUnknown significanceCNV analysisGenetics clinicEtiology of ASDCounseling familiesDisordersVariable penetranceClinicMicroarray analysisNovel deletionSpectrum disorderDisabilityCounseling challengesFurther supportEtiologyCohort