2022
A retrospective cohort analysis of the Yale pediatric genomics discovery program
Al‐Ali S, Jeffries L, Faustino EVS, Ji W, Mis E, Konstantino M, Zerillo C, Jiang Y, Spencer‐Manzon M, Bale A, Zhang H, McGlynn J, McGrath JM, Tremblay T, Brodsky NN, Lucas CL, Pierce R, Deniz E, Khokha MK, Lakhani SA. A retrospective cohort analysis of the Yale pediatric genomics discovery program. American Journal Of Medical Genetics Part A 2022, 188: 2869-2878. PMID: 35899841, PMCID: PMC9474639, DOI: 10.1002/ajmg.a.62918.Peer-Reviewed Original ResearchMeSH KeywordsCohort StudiesGenetic TestingGenomicsHigh-Throughput Nucleotide SequencingHumansPhenotypeRetrospective StudiesConceptsRetrospective cohort analysisNext-generation sequencingCohort analysisSystem abnormalitiesImmune system abnormalitiesCardiovascular system abnormalitiesFunctional molecular analysesNovel genesPrecise molecular diagnosisClinical characteristicsFurther genetic evaluationDiscovery programsComplex patientsMultisystem diseaseDisease genesPediatric providersRare genetic diseaseNew diagnosisPhenotype relationshipsPatientsGenetic diseasesMolecular analysisDiagnosisParticipant demographicsNGS results
2020
Exome sequencing analysis on products of conception: a cohort study to evaluate clinical utility and genetic etiology for pregnancy loss
Zhao C, Chai H, Zhou Q, Wen J, Reddy UM, Kastury R, Jiang Y, Mak W, Bale AE, Zhang H, Li P. Exome sequencing analysis on products of conception: a cohort study to evaluate clinical utility and genetic etiology for pregnancy loss. Genetics In Medicine 2020, 23: 435-442. PMID: 33100332, DOI: 10.1038/s41436-020-01008-6.Peer-Reviewed Original ResearchMeSH KeywordsAbortion, SpontaneousCohort StudiesDNA Copy Number VariationsExomeExome SequencingFemaleHumansPregnancyConceptsProducts of conceptionAbnormality detection rateLikely pathogenic variantsSpontaneous abortionPregnancy lossPathogenic variantsExome sequencingClinical utilityGenetic etiologyExome sequencing analysisPathogenic copy number variantsCohort studyFetal deathRenal diseaseMethodsA cohortSubsequent pregnancyCardiac anomaliesMonogenic etiologyMetabolic disordersRecurrence riskMultisystem abnormalitiesDiagnostic valueConclusionThese resultsMonogenic causesStillbirth
2015
Adult 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