Shehla Mohammed

Mutation of the RAD51C gene in a Fanconi anemia–like disorder

Fiona Vaz, Helmut Hanenberg, Beatrice Schuster et al. · Nature Genetics · 2010 · 405 citations

Life Sciences, Genetics, Molecular Genetics +12

Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy

Thomas Cullup, Ay Lin Kho, Carlo Dionisi‐Vici et al. · Nature Genetics · 2012 · 280 citations

Life Sciences, Genetics, Molecular Genetics +14

Germline selection shapes human mitochondrial DNA diversity

Wei Wei, Salih Tuna, Michael J. Keogh et al. · Science · 2019 · 251 citations · Full text

Medicine, Genetics, Molecular Genetics +15

Mutations in RYR1 are a common cause of exertional myalgia and rhabdomyolysis

Nomazulu Dlamini, Nicol C. Voermans, S. Lillis et al. · Neuromuscular Disorders · 2013 · 199 citations

Medicine, Genetics, Molecular Genetics +5

Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect

Hiva Fassihi, Mieran Sethi, Heather Fawcett et al. · Proceedings of the National Academy of Sciences · 2016 · 194 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15