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Dennis E. Bulman

Researcher at Children's Hospital of Eastern Ontario

Publications -  147
Citations -  17622

Dennis E. Bulman is an academic researcher from Children's Hospital of Eastern Ontario. The author has contributed to research in topics: Exome sequencing & Dystrophin. The author has an hindex of 48, co-authored 142 publications receiving 15714 citations. Previous affiliations of Dennis E. Bulman include Ottawa Hospital & London Health Sciences Centre.

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Journal ArticleDOI

Guidelines for the use and interpretation of assays for monitoring autophagy

Daniel J. Klionsky, +1287 more
- 01 Apr 2012 - 
TL;DR: These guidelines are presented for the selection and interpretation of methods for use by investigators who aim to examine macroautophagy and related processes, as well as for reviewers who need to provide realistic and reasonable critiques of papers that are focused on these processes.
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Familial Hemiplegic Migraine and Episodic Ataxia Type-2 Are Caused by Mutations in the Ca2+ Channel Gene CACNL1A4

Roel A. Ophoff, +15 more
- 01 Nov 1996 - 
TL;DR: A brain-specific P/Q-type Ca2+ channel alpha1-subunit gene, CACNL1A4, covering 300 kb with 47 exons is characterized, revealing polymorphic variations, including a (CA)n-repeat (D19S1150), a (CAG) n-repeat in the 3'-UTR, and different types of deleterious mutations in FHM and EA-2.
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A full genome search in multiple sclerosis

George C. Ebers, +29 more
- 01 Aug 1996 - 
TL;DR: The results support genetic epidemiological evidence that several genes interact epistatically to determine heritable susceptibility in multiple sclerosis.
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A Population-Based Study of Multiple Sclerosis in Twins

George C. Ebers, +9 more
- 25 Dec 1986 - 
TL;DR: To the extent that the difference in concordance rates between monozygotic and dizygotic twins indicates genetic susceptibility, the results of this study show a major genetic component in susceptibility to multiple sclerosis.
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Rare-disease genetics in the era of next-generation sequencing: discovery to translation

Kym M. Boycott, +3 more
- 01 Oct 2013 - 
TL;DR: The impact of discovering rare-disease-causing genes, from clinical diagnostics to insights gained into biological mechanisms and common diseases, is highlighted and the increasing therapeutic opportunities and challenges that the resulting expansion of the 'atlas' of human genetic pathology will bring are explored.