2019
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 studiesDiarrheaPatientsHepatologyClinic
2018
Prototheca zopfii Colitis in Inherited CARD9 Deficiency
Sari S, Dalgic B, Muehlenbachs A, DeLeon-Carnes M, Goldsmith CS, Ekinci O, Jain D, Keating MK, Vilarinho S. Prototheca zopfii Colitis in Inherited CARD9 Deficiency. The Journal Of Infectious Diseases 2018, 218: 485-489. PMID: 29659908, PMCID: PMC6049027, DOI: 10.1093/infdis/jiy198.Peer-Reviewed Original ResearchConceptsCARD9 deficiencyInherited CARD9 DeficiencySpecific immune defectsAbdominal painImmune defectsBloody diarrheaImmunocompromised individualsExome sequencingHuman protothecosisConsanguineous unionsProtothecosisNew mechanistic insightsFrameshift mutationDeficiencyPancolitisColitisPainDiarrheaPatientsPrototheca zopfiiImmunodeficiencyCARD9InfectionImmunityMonths