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 genesCharacteristics of undiagnosed diseases network applicants: implications for referring providers
Walley NM, Pena LDM, Hooper SR, Cope H, Jiang YH, McConkie-Rosell A, Sanders C, Schoch K, Spillmann RC, Strong K, McCray AT, Mazur P, Esteves C, LeBlanc K, Undiagnosed Diseases Network, Wise AL, Shashi V. Characteristics of undiagnosed diseases network applicants: implications for referring providers. BMC Health Services Research 2018, 18: 652. PMID: 30134969, PMCID: PMC6106923, DOI: 10.1186/s12913-018-3458-2.Peer-Reviewed Original ResearchConceptsObjective findingsSubjective symptomsUndiagnosed diseaseUndiagnosed Diseases NetworkAccepted applicationFurther diagnostic processesPrimary care providersPrimary care physiciansSystematic retrospective reviewSubspecialty consultsPrimary outcomeCare physiciansRetrospective reviewSpecialty consultationReferral lettersSpecialist consultationFunctional disordersCare providersSubjective findingsDemographic dataSymptomsReferral sourceOlder individualsDiagnostic effortsPatients5-Hydroxymethylcytosine alterations in the human postmortem brains of autism spectrum disorder
Cheng Y, Li Z, Manupipatpong S, Lin L, Li X, Xu T, Jiang YH, Shu Q, Wu H, Jin P. 5-Hydroxymethylcytosine alterations in the human postmortem brains of autism spectrum disorder. Human Molecular Genetics 2018, 27: 2955-2964. PMID: 29790956, PMCID: PMC6097011, DOI: 10.1093/hmg/ddy193.Peer-Reviewed Original ResearchConceptsEssential epigenetic markGenome-wide distributionCell-cell communicationEpigenetic marksDisease association analysisPsychiatric genesGenomic DNAAssociation analysisDhMRsPathogenesis of ASDHuman postmortem brainGenesHeterogeneous phenotypesPostmortem cerebellumEarly development stagesCI functionDevelopment stagesUnderlying mechanismPostmortem brainsClear underlying mechanismDNAPhenotypeSignificant fractionGroup of syndromesLarge group
2017
Novel 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 ResearchMeSH KeywordsChildChild, PreschoolEpilepsyFemaleHumansKv1.2 Potassium ChannelMaleMutationYoung AdultConceptsGeneralized 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 samplesPatients
2015
Practical considerations in the clinical application of whole‐exome sequencing
Shashi V, McConkie‐Rosell A, Schoch K, Kasturi V, Rehder C, Jiang YH, Goldstein DB, McDonald MT. Practical considerations in the clinical application of whole‐exome sequencing. Clinical Genetics 2015, 89: 173-181. PMID: 25678066, DOI: 10.1111/cge.12569.Peer-Reviewed Original ResearchConceptsWhole-exome sequencingClinical informationMedical genetics practiceWES resultsUtility of WESMolecular diagnostic rateClinical whole exome sequencingMedical geneticistsAdditional laboratory testsRetrospective studyDefinite diagnosisClinical dataLikely diagnosisPossible diagnosisClinical categoriesDiagnostic rateFurther laboratory testingPatientsUncertain significanceGenetic practiceDiagnosisClinical applicationFamily membersLaboratory resultsLaboratory testingAdult Surgical Experience With Loeys-Dietz Syndrome
Williams JA, Hanna JM, Shah AA, Andersen ND, McDonald MT, Jiang YH, Wechsler SB, Zomorodi A, McCann RL, Hughes GC. Adult Surgical Experience With Loeys-Dietz Syndrome. The Annals Of Thoracic Surgery 2015, 99: 1275-1281. PMID: 25678502, DOI: 10.1016/j.athoracsur.2014.11.021.Peer-Reviewed Original ResearchMeSH KeywordsAdultAortic Aneurysm, ThoracicAortic DissectionCardiac Surgical ProceduresCohort StudiesFemaleHumansLoeys-Dietz SyndromeMaleMiddle AgedPostoperative ComplicationsPrognosisReoperationRetrospective StudiesRisk AssessmentSeverity of Illness IndexSurvival RateTreatment OutcomeVascular Surgical ProceduresYoung AdultConceptsLoeys-Dietz syndromeAortic pathologySurgical experienceAggressive treatment strategiesSingle referral institutionAortic root replacementVascular surgical interventionTotal aortic replacementLate deathsAcute typeAortic replacementInfectious complicationsAdult patientsLDS patientsRoot replacementImproved survivalSurgical treatmentReferral institutionVascular catastrophesSurgical interventionCerebrovascular pathologySpecific phenotypic featuresClinical criteriaNeurosurgical interventionTreatment strategies