Julie MacFarlane

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

Hepcidin in iron overload disorders

George Papanikolaou, Michalis Tzilianos, John Christakis et al. · Blood · 2005 · 440 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

A homozygous <i>HAMP</i> mutation in a multiply consanguineous family with pseudo‐dominant juvenile hemochromatosis

MB Delatycki, Peter Gow, Julie MacFarlane et al. · Clinical Genetics · 2004 · 55 citations