Melissa A. Gilbert

Alagille syndrome mutation update: Comprehensive overview of<i>JAG1</i>and<i>NOTCH2</i>mutation frequencies and insight into missense variant classification

Melissa A. Gilbert, Robert C. Bauer, Ramakrishnan Rajagopalan et al. · Human Mutation · 2019 · 137 citations · Full text

Family Members, Genetics, Immunodeficiencies +20

Natural history of liver disease in a large international cohort of children with Alagille syndrome: Results from the GALA study

Shannon M. Vandriel, Liting Li, Huiyu She et al. · Hepatology · 2022 · 80 citations · Full text

A genome-wide association study identifies a susceptibility locus for biliary atresia on 2p16.1 within the gene EFEMP1

Ying Chen, Melissa A. Gilbert, Christopher M. Grochowski et al. · PLoS Genetics · 2018 · 67 citations · Full text

THBS2 Is a Candidate Modifier of Liver Disease Severity in Alagille Syndrome

Ellen Tsai, Melissa A. Gilbert, Christopher M. Grochowski et al. · Cellular and Molecular Gastroenterology and Hepatology · 2016 · 49 citations · Full text

Alagille Syndrome: Genetics and Functional Models

Melissa A. Gilbert, Nancy B. Spinner · Current Pathobiology Reports · 2017 · 44 citations · Full text

Genetic Disorder, Genetics, Pathogenesis +2