Concepedia

Julie MacFarlane

JM

Statistics

Publications

6

Citations

2.1K

H-Index

6

Active since

2003

Affiliations

Xenon Pharmaceuticals (Canada)(Current)

University of British Columbia

Theageneio General Hospital

National and Kapodistrian University of Athens

Memorial University of Newfoundland

Julie MacFarlane is an author at Xenon Pharmaceuticals (Canada) specializing in human genetics, molecular genetics, and medical genetics.

Publications per year

2003–2013

6

Publications

6

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

Medicine, Genetics, Molecular Genetics +14

Loss‐of‐function mutations in the Na <sub>v</sub> 1.7 gene underlie congenital indifference to pain in multiple human populations

Y. Paul Goldberg, Julie MacFarlane, ML MacDonald et al. · Clinical Genetics · 2007 · 457 citations

Life Sciences, Genetics, Molecular Genetics +17

Hepcidin in iron overload disorders

George Papanikolaou, Michalis Tzilianos, John Christakis et al. · Blood · 2005 · 444 citations · Full text

Medicine, Biochemistry, Hematology +11

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

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

Medicine, Genetics, Molecular Genetics +17

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