Deborah McEldrew

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 · 148 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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

Life Sciences, Genetics, Molecular Genetics +17

Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, <scp>genotype–phenotype</scp> correlations and common mechanisms

Maninder Kaur, Justin Blair, Batsal Devkota et al. · American Journal of Medical Genetics Part A · 2023 · 41 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

NIPBL+/− haploinsufficiency reveals a constellation of transcriptome disruptions in the pluripotent and cardiac states

Jason A. Mills, Pamela S. Herrera, Maninder Kaur et al. · Scientific Reports · 2018 · 36 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Genome sequencing increases diagnostic yield in clinically diagnosed Alagille syndrome patients with previously negative test results

Ramakrishnan Rajagopalan, Melissa A. Gilbert, Deborah McEldrew et al. · Genetics in Medicine · 2020 · 27 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17