Fathiya Al-Murshedi

Loss-of-function variant in DNASE1L3 causes a familial form of systemic lupus erythematosus

Sulaiman M. Al‐Mayouf, Asma Sunker, Reem Abdwani et al. · Nature Genetics · 2011 · 479 citations

Life Sciences, Genetics, Molecular Genetics +14

The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes

Dorota Monies, Mohamed Abouelhoda, Moeenaldeen AlSayed et al. · Human Genetics · 2017 · 309 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

A mutation of<i>EPT1 (SELENOI)</i>underlies a new disorder of Kennedy pathway phospholipid biosynthesis

Aisha Al‐Khayat, Fathiya Al-Murshedi, Amna Al‐Futaisi et al. · Brain · 2016 · 78 citations · Full text

Life Sciences, Genetics, Neurology +16

Mutations in APOPT1, Encoding a Mitochondrial Protein, Cause Cavitating Leukoencephalopathy with Cytochrome c Oxidase Deficiency

Laura Melchionda, Tobias B. Haack, Steven Hardy et al. · The American Journal of Human Genetics · 2014 · 77 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

PCYT2-regulated lipid biosynthesis is critical to muscle health and ageing

Domagoj Cikes, Kareem Elsayad, Erdinç Sezgin et al. · Nature Metabolism · 2023 · 57 citations · Full text

Life Sciences, Biochemistry, Physiology +12