Panel-Based Next-Generation Sequencing for the Diagnosis of Cholestatic Genetic Liver Diseases: Clinical Utility and Challenges

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri J. Bale et al. · Genetics in Medicine · 2015 · 32.2K citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Guideline for the Evaluation of Cholestatic Jaundice in Infants

Rima Fawaz, Ulrich Baumann, Udeme D. Ekong et al. · Journal of Pediatric Gastroenterology and Nutrition · 2016 · 524 citations

Medicine, Child Health, Pediatrics +17

Use of Exome Sequencing for Infants in Intensive Care Units

Linyan Meng, Mohan Pammi, Anirudh Saronwala et al. · JAMA Pediatrics · 2017 · 431 citations · Full text

Medicine, Genetics, Pediatrics +14

Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis

Natalia Gomez‐Ospina, Carol Potter, Rui Xiao et al. · Nature Communications · 2016 · 296 citations · Full text

Medicine, Genetics, Molecular Genetics +17

MYO5B mutations cause cholestasis with normal serum gamma‐glutamyl transferase activity in children without microvillous inclusion disease

Emmanuel Gonzalès, Sarah A. Taylor, Anne Spraul et al. · Hepatology · 2016 · 160 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17