Robin J. Leach

Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer

Fredrick S. Leach, Nicholas C. Nicolaides, Nickolas Papadopoulos et al. · Cell · 1993 · 2.3K citations

A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns

Nanda A. Singh, Carole Charlier, Dora Stauffer et al. · Nature Genetics · 1998 · 1.2K citations

Channelopathies, Molecular Neuroscience, Hyperpolarization (Biology) +12

A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family

Carole Charlier, Nanda A. Singh, Stephen G. Ryan et al. · Nature Genetics · 1998 · 934 citations

Channelopathies, Signal Transduction, Hyperpolarization (Biology) +12

The peripheral myelin protein gene PMP–22 is contained within the Charcot–Marie–Tooth disease type 1A duplication

Vincent Timmerman, Eva Nelis, Wim Van Hul et al. · Nature Genetics · 1992 · 391 citations

Neurodegenerative Diseases, Peripheral Nerves, Genetic Disorder +8

Linkage of Type 2 Diabetes Mellitus and of Age at Onset to a Genetic Location on Chromosome 10q in Mexican Americans

Ravindranath Duggirala, John Blangero, Laura Almasy et al. · The American Journal of Human Genetics · 1999 · 345 citations · Full text

Genetic Determinant, Diabetes Epidemiology, Genetic Disorder +11