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 ResearchMeSH KeywordsAutism Spectrum DisorderBrainChinaGenotypeGray MatterHumansNerve Tissue ProteinsPhenotypeConceptsTract-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 nares
2018
Environmental enrichment has minimal effects on behavior in the Shank3 complete knockout model of autism spectrum disorder
Hulbert SW, Bey AL, Jiang Y. Environmental enrichment has minimal effects on behavior in the Shank3 complete knockout model of autism spectrum disorder. Brain And Behavior 2018, 8: e01107. PMID: 30317697, PMCID: PMC6236244, DOI: 10.1002/brb3.1107.Peer-Reviewed Original Research
2017
Looking 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 testing
2015
Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios
Zhu X, Petrovski S, Xie P, Ruzzo EK, Lu YF, McSweeney KM, Ben-Zeev B, Nissenkorn A, Anikster Y, Oz-Levi D, Dhindsa RS, Hitomi Y, Schoch K, Spillmann RC, Heimer G, Marek-Yagel D, Tzadok M, Han Y, Worley G, Goldstein J, Jiang YH, Lancet D, Pras E, Shashi V, McHale D, Need AC, Goldstein DB. Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios. Genetics In Medicine 2015, 17: 774-781. PMID: 25590979, PMCID: PMC4791490, DOI: 10.1038/gim.2014.191.Peer-Reviewed Original ResearchConceptsDisease genesWhole-exome sequencingDamaging de novo mutationsNovel bioinformatics approachNovel disease genesAppropriate bioinformatics analysisNew gene-disease associationsClinical sequence dataGene-disease associationsDisease-causing genesNovel genesIntolerant genesBioinformatics approachSequence dataBioinformatics analysisDe novo mutationsGenomic interpretationPattern of genotypesSimilar phenotypeGenesGenetic diseasesDiagnostic genotypesUndiagnosed genetic diseasesNovo mutationsCandidate genotypes
2009
Mitochondrial dysfunction in CA1 hippocampal neurons of the UBE3A deficient mouse model for Angelman syndrome
Su H, Fan W, Coskun PE, Vesa J, Gold JA, Jiang YH, Potluri P, Procaccio V, Acab A, Weiss JH, Wallace DC, Kimonis VE. Mitochondrial dysfunction in CA1 hippocampal neurons of the UBE3A deficient mouse model for Angelman syndrome. Neuroscience Letters 2009, 487: 129-133. PMID: 19563863, PMCID: PMC2888840, DOI: 10.1016/j.neulet.2009.06.079.Peer-Reviewed Original ResearchConceptsWild-type littermatesAngelman syndromeMaternal UBE3A alleleMitochondrial dysfunctionCA1 hippocampal neuronsSynaptic vesicle densityWhole brain mitochondriaDeficient mouse modelUbiquitin protein ligase E3ASevere neurological disordersAS miceHippocampal neuronsHippocampal regionMouse modelOxidative phosphorylationNeurological disordersBrain mitochondriaSyndromeMiceVesicle densityPathophysiologyDysfunctionDense mitochondriaLittermatesUBE3A