Exome Sequencing in Clinical Hepatology
Vilarinho S, Mistry PK. Exome Sequencing in Clinical Hepatology. Hepatology 2019, 70: 2185-2192. PMID: 31222768, PMCID: PMC6885087, DOI: 10.1002/hep.30826.BooksConceptsWhole-exome sequencingClinical diagnosisUtility of WESCare of patientsCongenital chloride diarrheaLiver clinicLiver diseaseClinical hepatologyDefinitive diagnosisNovel genetic disorderPediatric disordersClinical relevanceChloride diarrheaSalt-wasting diseaseExome sequencingDiagnosisGenetic disordersDiseaseDisordersPractice of medicineNumerous studiesDiarrheaPatientsHepatologyClinicRecessive Mutations in KIF12 Cause High Gamma‐Glutamyltransferase Cholestasis
Aksu A, Das SK, Nelson‐Williams C, Jain D, Hoşnut F, Şahin G, Lifton RP, Vilarinho S. Recessive Mutations in KIF12 Cause High Gamma‐Glutamyltransferase Cholestasis. Hepatology Communications 2019, 3: 471-477. PMID: 30976738, PMCID: PMC6442693, DOI: 10.1002/hep4.1320.Peer-Reviewed Original ResearchLiver diseaseHigh GGTUndiagnosed liver diseaseHomozygous mutationCholestatic liver diseaseUnmet medical needWhole-exome sequencingSame homozygous mutationPediatric hepatologyNeonatal cholestasisRare homozygous mutationUnclear etiologyCholestasisUndiagnosed childrenMedical needUnrelated childrenGermline DNADiseaseMember 12ChildrenConsanguineous unionsOlder siblingsMissense mutationsGGTDamaging mutations