Mona Mohammad Almramhi

Finding genetically-supported drug targets for Parkinson’s disease using Mendelian randomization of the druggable genome

Catherine S. Storm, Demis A. Kia, Mona Mohammad Almramhi et al. · Nature Communications · 2021 · 204 citations · Full text

Exome analysis identified a novel missense mutation in the CLPP gene in a consanguineous Saudi family expanding the clinical spectrum of Perrault Syndrome type-3

Saleem Ahmed, Musharraf Jelani, Nuha Alrayes et al. · Journal of the Neurological Sciences · 2015 · 44 citations

Mendelian Disorder, Clpp Gene, Genetic Disorder +9

A missense mutation in TRAPPC6A leads to build-up of the protein, in patients with a neurodevelopmental syndrome and dysmorphic features

Hussein Sheikh Ali Mohamoud, Saleem Ahmed, Musharraf Jelani et al. · Scientific Reports · 2018 · 40 citations · Full text

Novel nonsense mutation in the PTRF gene underlies congenital generalized lipodystrophy in a consanguineous Saudi family

Musharraf Jelani, Saleem Ahmed, Mona Mohammad Almramhi et al. · European Journal of Medical Genetics · 2015 · 36 citations

Developmental Anomaly, Mendelian Disorder, Ptrf Gene Underlies +8

A novel homozygous PTH1R variant identified through whole-exome sequencing further expands the clinical spectrum of primary failure of tooth eruption in a consanguineous Saudi family

Musharraf Jelani, Changsoo Kang, Hussein Sheikh Ali Mohamoud et al. · Archives of Oral Biology · 2016 · 25 citations

Consanguineous Saudi Family, Genetics, Pathogenesis +5