Terry D. Pape

Mutations in HFE2 cause iron overload in chromosome 1q–linked juvenile hemochromatosis

George Papanikolaou, Mark Samuels, E H Ludwig et al. · Nature Genetics · 2003 · 976 citations · Full text

Juvenile Hemochromatosis, Heme Homeostasis, Iron Metabolism +8

Loss‐of‐function mutations in the Na _v 1.7 gene underlie congenital indifference to pain in multiple human populations

Y. Paul Goldberg, Julie MacFarlane, ML MacDonald et al. · Clinical Genetics · 2007 · 448 citations

β-cell ABCA1 influences insulin secretion, glucose homeostasis and response to thiazolidinedione treatment

Liam R. Brunham, Janine K. Kruit, Terry D. Pape et al. · Nature Medicine · 2007 · 417 citations

Metabolic Syndrome, Insulin Signaling, Diabetes Management +11

A functional ABCA1 gene variant is associated with low HDL-cholesterol levels and shows evidence of positive selection in Native Americans

Víctor Acuña-Alonzo, María Teresa Flores-Dorantes, Janine K. Kruit et al. · Human Molecular Genetics · 2010 · 163 citations · Full text

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 · 156 citations · Full text

Mendelian Disorder, Novel Gene, Genetic Disorder +9