Hussein Sheikh Ali Mohamoud

Induced pluripotent stem cell modelling of HLHS underlines the contribution of dysfunctional NOTCH signalling to impaired cardiogenesis

Chunbo Yang, Yaobo Xu, Min Yu et al. · Human Molecular Genetics · 2017 · 68 citations · Full text

Cardiac Muscle, Impaired Cardiogenesis, Adult Stem Cell +17

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 mutation in the major autophagy gene, WIPI2, associated with global developmental abnormalities

Musharraf Jelani, Hannah C. Dooley, Andrea Gubaš et al. · Brain · 2019 · 42 citations · Full text

Mitophagy, Family Members, Genetics +20

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