Simon N. Pimstone

Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency

Angela Brooks‐Wilson, Michel Marcil, Susanne M. Clee et al. · Nature Genetics · 1999 · 1.7K citations

Life Sciences, Genetics, Molecular Genetics +14

Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy

Johane M. Robitaille, Marcia L.E. MacDonald, Ajamete Kaykas et al. · Nature Genetics · 2002 · 476 citations

Medicine, Genetics, Ophthalmology +11

Mutations in the ABC 1 gene in familial HDL deficiency with defective cholesterol efflux

Michel Marcil, Angela Brooks‐Wilson, Susanne M. Clee et al. · The Lancet · 1999 · 358 citations

Life Sciences, Genetics, Molecular Genetics +16

Identification of a Novel Gene (HSN2) Causing Hereditary Sensory and Autonomic Neuropathy Type II through the Study of Canadian Genetic Isolates

Ronald G. Lafrenière, Marcia L.E. MacDonald, Marie‐Pierre Dubé et al. · The American Journal of Human Genetics · 2004 · 157 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9

Treatment of Nav1.7-mediated pain in inherited erythromelalgia using a novel sodium channel blocker

Yigal Paul Goldberg, Nicola Price, Rostam Namdari et al. · Pain · 2011 · 149 citations

Medicine, Pharmacology, Pharmacotherapy +17