Deema Aljeaid

Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis

Pamela Magini, Daphne J. Smits, Laura Vandervore et al. · The American Journal of Human Genetics · 2019 · 85 citations · Full text

Life Sciences, Developmental Biology, Human Development +11

Hyperinsulinemic hypoglycemia in seven patients with de novo <i>NSD1</i> mutations

Katheryn Grand, Christina X Gonzalez-Gandolfi, Amanda M. Ackermann et al. · American Journal of Medical Genetics Part A · 2019 · 20 citations

Life Sciences, Endocrinology, Genetics +17

Prevalence of pathogenic and likely pathogenic variants in the RASopathy genes in patients who have had panel testing for cardiomyopathy

Deema Aljeaid, A.I. Sánchez, Emily Wakefield et al. · American Journal of Medical Genetics Part A · 2019 · 19 citations

Life Sciences, Cardiology, Genetics +16

Nationwide survey on awareness of consanguinity and genetic diseases in Saudi Arabia: challenges and potential solutions to reduce the national healthcare burden

Ashraf A. El‐Harouni, Noor Ahmad Shaik, Babajan Banaganapalli et al. · Human Genomics · 2024 · 15 citations · Full text

Public Health, Genetics, Population Health Sciences +17

A novel pathogenic variant in <i>OFD1</i> results in X‐linked Joubert syndrome with orofaciodigital features and pituitary aplasia

Deema Aljeaid, Rachel C. Lombardo, David P. Witte et al. · American Journal of Medical Genetics Part A · 2019 · 13 citations

Medicine, Endocrinology, Genetics +17