2023
Advancing diagnosis and management of liver disease in adults through exome sequencing
Zheng M, Hakim A, Konkwo C, Deaton A, Ward L, Genetics A, Silveira M, Assis D, Liapakis A, Jaffe A, Jiang Z, Curry M, Lai M, Cho M, Dykas D, Bale A, Mistry P, Vilarinho S. Advancing diagnosis and management of liver disease in adults through exome sequencing. EBioMedicine 2023, 95: 104747. PMID: 37566928, PMCID: PMC10433007, DOI: 10.1016/j.ebiom.2023.104747.Peer-Reviewed Original ResearchConceptsLiver diseaseWhole-exome sequencingUnknown etiologyTertiary referral academic medical centerReferral academic medical centerExome sequencingLiver disease patientsManagement of adultsAcademic health care centerComprehensive clinical evaluationHealth care centersAcademic medical centerGenetic variantsRare genetic variantsAdult patientsLiver centersHepatic steatosisDisease patientsClinical evaluationCare centerFamily historyMedical CenterClinical valueAdult medicinePatients
2022
Noninvasive biomarkers for the diagnosis and management of autoimmune hepatitis
Harrington C, Krishnan S, Mack CL, Cravedi P, Assis DN, Levitsky J. Noninvasive biomarkers for the diagnosis and management of autoimmune hepatitis. Hepatology 2022, 76: 1862-1879. PMID: 35611859, PMCID: PMC9796683, DOI: 10.1002/hep.32591.Peer-Reviewed Original ResearchConceptsAutoimmune hepatitisNormal serum transaminasesPediatric autoimmune hepatitisFirst-line treatmentAcute liver failureImmune cell phenotypesPredictors of responseHigh clinical valueNovel candidate biomarkersPersonalized therapeutic managementSystemic corticosteroidsCurrent regimensMedication titrationHistological activityMost patientsClinical courseLiver failureLiver injurySerum transaminasesMedication dosingTherapeutic managementUnclear etiologyHepatic fibrosisClinical valueElevated risk