Aya Abu‐El‐Haija

The clinical application of polygenic risk scores: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)

Aya Abu‐El‐Haija, Honey V. Reddi, Hannah Wand et al. · Genetics in Medicine · 2023 · 79 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Delayed diagnosis and racial bias in children with genetic conditions

Jacklyn Omorodion, Leah Dowsett, Robin D. Clark et al. · American Journal of Medical Genetics Part A · 2022 · 29 citations · Full text

Life Sciences, Genetics, Pediatrics +17

Laboratory perspectives in the development of polygenic risk scores for disease: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)

Honey V. Reddi, Hannah Wand, Birgit Funke et al. · Genetics in Medicine · 2023 · 27 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

A novel truncating variant in ring finger protein 113A (<i>RNF113A</i>) confirms the association of this gene with X‐linked trichothiodystrophy

Bryce A. Mendelsohn, Daniah Beleford, Aya Abu‐El‐Haija et al. · American Journal of Medical Genetics Part A · 2019 · 19 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Autosomal‐dominant <scp><i>WFS1</i>‐related</scp> disorder—Report of a novel <scp><i>WFS1</i></scp> variant and review of the phenotypic spectrum of autosomal recessive and dominant forms

Aya Abu‐El‐Haija, Caroline McGowan, Deborah K. VanderVeen et al. · American Journal of Medical Genetics Part A · 2020 · 19 citations

Life Sciences, Genetics, Molecular Genetics +17