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
2017
Gallbladder and bile duct disease in Cystic Fibrosis
Assis DN, Debray D. Gallbladder and bile duct disease in Cystic Fibrosis. Journal Of Cystic Fibrosis 2017, 16: s62-s69. PMID: 28986023, DOI: 10.1016/j.jcf.2017.07.006.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsConceptsBile duct diseaseCystic fibrosisHigh-quality careDuct diseaseExtra-pulmonary manifestationsBile duct pathologyEfficient clinical evaluationHepatobiliary disturbancesCommon complicationClinical presentationBiliary diseaseDuct pathologyBiliary treeClinical evaluationBiliary disordersUndetected pathologyGallbladderDiverse disordersPatientsDiseaseCareFibrosisPathologyDisordersComplications