Noura S. Abul‐Husn

A Protein-Truncating <i>HSD17B13</i> Variant and Protection from Chronic Liver Disease

Noura S. Abul‐Husn, Xiping Cheng, Alexander Li et al. · New England Journal of Medicine · 2018 · 768 citations · Full text

Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study

Frederick E. Dewey, Michael F. Murray, John D. Overton et al. · Science · 2016 · 588 citations

Genetics, Genetic Epidemiology, Pathology +24

Genetic identification of familial hypercholesterolemia within a single U.S. health care system

Noura S. Abul‐Husn, Kandamurugu Manickam, Laney K. Jones et al. · Science · 2016 · 421 citations

Family Medicine, Genetic Testing, Exome Sequencing +20

ACMG SF v3.2 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG)

David T. Miller, Kristy Lee, Noura S. Abul‐Husn et al. · Genetics in Medicine · 2023 · 364 citations · Full text

Secondary Findings, Sequencing, Acmg Sf +7

Exome Sequencing–Based Screening for <i>BRCA1/2</i> Expected Pathogenic Variants Among Adult Biobank Participants

Kandamurugu Manickam, Adam H. Buchanan, M. Schwartz et al. · JAMA Network Open · 2018 · 204 citations · Full text