2023
Hepatology Genome Rounds: An interdisciplinary approach to integrate genomic data into clinical practice
Chung D, Zheng M, Bale A, Vilarinho S. Hepatology Genome Rounds: An interdisciplinary approach to integrate genomic data into clinical practice. Journal Of Hepatology 2023, 79: 1065-1071. PMID: 37011712, PMCID: PMC10523901, DOI: 10.1016/j.jhep.2023.03.030.Peer-Reviewed Original ResearchConceptsSingle-center experienceField of hepatologyWhole-exome sequencingLiver diseaseUndiagnosed patientsNew diagnosisClinical practiceAppropriate managementAccurate diagnosisGenetic testingOngoing educationClinical interestGenetic etiologyClear benefitDiagnosisClinical medicineGenomic medicineAdditional specialties
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 ResearchConceptsRetrospective 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