Iman S. Abumansour

Identification of a novel nonsense variant c.1332dup, p.(D445*) in the LDLR gene that causes familial hypercholesterolemia

Faisal A. Al-Allaf, Mohammad Athar, Zainularifeen Abduljaleel et al. · Human Genome Variation · 2014 · 23 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Identification of a recurrent frameshift mutation at the LDLR exon 14 (c.2027delG, p.(G676Afs*33)) causing familial hypercholesterolemia in Saudi Arab homozygous children

Faisal A. Al-Allaf, Abdullah Al‐Ashwal, Zainularifeen Abduljaleel et al. · Genomics · 2015 · 22 citations

Life Sciences, Genetics, Molecular Genetics +16

Morquio‐B disease: Clinical and genetic characteristics of a distinct <i>GLB1</i>‐related dysostosis multiplex

Iman S. Abumansour, Nataliya Yuskiv, Eduard Paschke et al. · JIMD Reports · 2019 · 21 citations · Full text

Medicine, Neurology, Movement Disorders +9

ARL6IP6, a susceptibility locus for ischemic stroke, is mutated in a patient with syndromic Cutis Marmorata Telangiectatica Congenita

Iman S. Abumansour, Hadia Hijazi, Anas Alazmi et al. · Human Genetics · 2015 · 20 citations

Life Sciences, Genetics, Molecular Genetics +13

Descriptive epidemiology of female breast cancer around the world: incidence, mortality, and sociodemographic risks and disparities

Nasser A. Elhawary, Samar N Ekram, Hatem Sembawa et al. · International Journal of Environmental Health Research · 2025 · 15 citations

Medicine, Demography, Oncology +17