Rumaisa Bashir

A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B

Rumaisa Bashir, S. Britton, Tom Strachan et al. · Nature Genetics · 1998 · 683 citations

Medicine, Genetics, Molecular Genetics +11

Recessive Mutations in the Putative Calcium-Activated Chloride Channel Anoctamin 5 Cause Proximal LGMD2L and Distal MMD3 Muscular Dystrophies

Véronique Bolduc, Gareth Marlow, Kym M. Boycott et al. · The American Journal of Human Genetics · 2010 · 282 citations · Full text

Medicine, Genetics, Molecular Genetics +16

Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies)

Louise V.B. Anderson, Ruth M Harrison, Robert Pogue et al. · Neuromuscular Disorders · 2000 · 164 citations · Full text

Medicine, Molecular Biology, Neuromuscular Disorders +13

Investigation of the role of polymorphisms at the alcohol and aldehyde dehydrogenase loci in genetic predisposition to alcohol-related end-organ damage

Christopher P. Day, Rumaisa Bashir, Oliver James et al. · Hepatology · 1991 · 158 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

A completed screen for mutations of the rhodopsin gene in a panel of patients with autosomal dominant retinitis piamentosa

Chris F. Inglehearn, T J Keen, Rumaisa Bashir et al. · Human Molecular Genetics · 1992 · 152 citations

Life Sciences, Genetics, Ophthalmology +9