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
2019
Clinical utility of genomic analysis in adults with idiopathic liver disease
Hakim A, Zhang X, DeLisle A, Oral EA, Dykas D, Drzewiecki K, Assis DN, Silveira M, Batisti J, Jain D, Bale A, Mistry PK, Vilarinho S. Clinical utility of genomic analysis in adults with idiopathic liver disease. Journal Of Hepatology 2019, 70: 1214-1221. PMID: 31000363, PMCID: PMC6526061, DOI: 10.1016/j.jhep.2019.01.036.Peer-Reviewed Original ResearchConceptsIdiopathic liver diseaseUnexplained liver diseaseManagement of adultsWhole-exome sequencingLiver diseaseAdult patientsUnknown etiologyHeterozygous variantsUse of WESAmelioration of dyslipidemiaDaily insulin requirementLeptin replacement therapyUtility of WESChronic liver diseaseNon-alcoholic steatohepatitisAcademic health care centerHealth care centersHomozygous pathogenic variantUnrelated adult patientsNon-oncological diseasesDisease preventive measuresInsulin requirementsLean patientsDevastating complicationLiver aminotransferases
2013
The Promise and Pitfalls of Genomics-Driven Cancer Medicine
Hofstatter EW, Bale AE. The Promise and Pitfalls of Genomics-Driven Cancer Medicine. The AMA Journal Of Ethic 2013, 15: 681. PMID: 23937784, DOI: 10.1001/virtualmentor.2013.15.8.stas1-1308.Books