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Dennis E. Bulman
Dennis E. Bulman
Alberta Precision Labs and Universit of Calgary Ottawa
Verified email at aplabs.ca
Title
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Cited by
Year
Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1
DJ Klionsky, AK Abdel-Aziz, S Abdelfatah, M Abdellatif, A Abdoli, S Abel, ...
autophagy 17 (1), 1-382, 2021
13752*2021
Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4
RA Ophoff, GM Terwindt, MN Vergouwe, R van Eijk, PJ Oefner, ...
Cell 87 (3), 543-552, 1996
29521996
Rare-disease genetics in the era of next-generation sequencing: discovery to translation
KM Boycott, MR Vanstone, DE Bulman, AE MacKenzie
Nature Reviews Genetics 14 (10), 681-691, 2013
9492013
A population-based study of multiple sclerosis in twins
GC Ebers, DE Bulman, AD Sadovnick, DW Paty, S Warren, W Hader, ...
New England Journal of Medicine 315 (26), 1638-1642, 1986
8611986
A full genome search in multiple sclerosis
GC Ebers, K Kukay, DE Bulman, AD Sadovnick, G Rice, C Anderson, ...
Nature genetics 13 (4), 472-476, 1996
8561996
The Duchenne muscular dystrophy gene product is localized in sarcolemma of human skeletal muscle
EE Zubrzycka-Gaarn, DE Bulman, G Karpati, AHM Burghes, B Belfall, ...
Nature 333 (6172), 466-469, 1988
8271988
Very mild muscular dystrophy associated with the deletion of 46% of dystrophin
SB England, LVB Nicholson, MA Johnson, SM Forrest, DR Love, ...
Nature 343 (6254), 180-182, 1990
7701990
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes
JB Rivière, GM Mirzaa, BJ O'Roak, M Beddaoui, D Alcantara, RL Conway, ...
Nature genetics 44 (8), 934-940, 2012
7502012
A population‐based study of multiple sclerosis in twins: update
AD Sadovnick, H Armstrong, GPA Rice, D Bulman, L Hashimoto, ...
Annals of neurology 33 (3), 281-285, 1993
6801993
Utility of whole‐exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care
SL Sawyer, T Hartley, DA Dyment, CL Beaulieu, J Schwartzentruber, ...
Clinical genetics 89 (3), 275-284, 2016
4532016
Parkinson’s disease-linked LRRK2 is expressed in circulating and tissue immune cells and upregulated following recognition of microbial structures
M Hakimi, T Selvanantham, E Swinton, RF Padmore, Y Tong, G Kabbach, ...
Journal of neural transmission 118, 795-808, 2011
3302011
Mutations in EZH2 cause Weaver syndrome
WT Gibson, RL Hood, SH Zhan, DE Bulman, AP Fejes, R Moore, ...
The American Journal of Human Genetics 90 (1), 110-118, 2012
3212012
FORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery project
CL Beaulieu, J Majewski, J Schwartzentruber, ME Samuels, ...
The American Journal of Human Genetics 94 (6), 809-817, 2014
2902014
XRCC1 mutation is associated with PARP1 hyperactivation and cerebellar ataxia
NC Hoch, H Hanzlikova, SL Rulten, M Tétreault, E Komulainen, L Ju, ...
Nature 541 (7635), 87-91, 2017
2672017
A novel sodium channel mutation in a family with hypokalemic periodic paralysis
DE Bulman, KA Scoggan, MD Van Oene, MW Nicolle, AF Hahn, LL Tollar, ...
Neurology 53 (9), 1932-1932, 1999
2441999
TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone
L Huang, K Szymanska, VL Jensen, AR Janecke, AM Innes, EE Davis, ...
The American Journal of Human Genetics 89 (6), 713-730, 2011
2362011
Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly
MA Lines, L Huang, J Schwartzentruber, SL Douglas, DC Lynch, ...
The American Journal of Human Genetics 90 (2), 369-377, 2012
2282012
Dystrophin expression in the human retina is required for normal function as defined by electroretinography
DAM Pillers, DE Bulman, RG Weleber, DA Sigesmund, MA Musarella, ...
Nature genetics 4 (1), 82-86, 1993
2081993
Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome
RL Hood, MA Lines, SM Nikkel, J Schwartzentruber, C Beaulieu, ...
The American Journal of Human Genetics 90 (2), 308-313, 2012
2022012
Functional alteration of PARL contributes to mitochondrial dysregulation in Parkinson's disease
G Shi, JR Lee, DA Grimes, L Racacho, D Ye, H Yang, OA Ross, M Farrer, ...
Human molecular genetics 20 (10), 1966-1974, 2011
2022011
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