Concepedia

Patrick Frosk

PF

Statistics

Publications

20

Citations

1.6K

H-Index

16

Active since

2002

Affiliations

University of Manitoba(Current)

University of Calgary

Hôpital Necker-Enfants Malades

University of British Columbia

University of Ottawa

Patrick Frosk is an author at University of Manitoba specializing in genetics, human genetics, and medical genetics.

Publications per year

2002–2025

20

Publications

20

Limb-Girdle Muscular Dystrophy Type 2H Associated with Mutation in TRIM32, a Putative E3-Ubiquitin–Ligase Gene

Patrick Frosk, Tracey Weiler, Edward Nylen et al. · The American Journal of Human Genetics · 2002 · 258 citations · Full text

Life Sciences, Genetics, Molecular Biology +12

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes

Gabrielle Wheway, Miriam Schmidts, Dorus A. Mans et al. · Nature Cell Biology · 2015 · 250 citations · Full text

Life Sciences, Genetics, Molecular Biology +7

TMEM237 Is Mutated in Individuals with a Joubert Syndrome Related Disorder and Expands the Role of the TMEM Family at the Ciliary Transition Zone

Lijia Huang, Katarzyna Szymańska, Victor L. Jensen et al. · The American Journal of Human Genetics · 2011 · 200 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10

Cardiac and respiratory failure in limb‐girdle muscular dystrophy 2I

Maja Poppe, John Bourke, Michelle Eagle et al. · Annals of Neurology · 2004 · 135 citations

Medicine, Genetics, Neurology +11

Commonality of <i>TRIM32</i> mutation in causing sarcotubular myopathy and LGMD2H

Benedikt Schoser, Patrick Frosk, Andrew G. Engel et al. · Annals of Neurology · 2005 · 112 citations

Life Sciences, Genetics, Neurology +12

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