Pascale Marquis
Overview
Explore the profile of Pascale Marquis including associated specialties, affiliations and a list of published articles.
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Articles
7
Citations
159
Followers
0
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Recent Articles
1.
Singh S, Penney C, Griffin A, Woodland G, Werdyani S, Benteau T, et al.
Eur J Hum Genet
. 2023 Apr;
31(7):815-823.
PMID: 37072551
Genotype-phenotype correlations add value to the management of families with hereditary hearing loss (HL), where age-related typical audiograms (ARTAs) are generated from cross-sectional regression equations and used to predict the...
2.
Duperron M, Knol M, Le Grand Q, Evans T, Mishra A, Tsuchida A, et al.
Nat Med
. 2023 Apr;
29(4):950-962.
PMID: 37069360
Perivascular space (PVS) burden is an emerging, poorly understood, magnetic resonance imaging marker of cerebral small vessel disease, a leading cause of stroke and dementia. Genome-wide association studies in up...
3.
Yang Y, Knol M, Wang R, Mishra A, Liu D, Luciano M, et al.
Brain
. 2022 Aug;
146(2):492-506.
PMID: 35943854
Cerebral white matter hyperintensities on MRI are markers of cerebral small vessel disease, a major risk factor for dementia and stroke. Despite the successful identification of multiple genetic variants associated...
4.
Pater J, Penney C, ORielly D, Griffin A, Kamal L, Brownstein Z, et al.
Hum Genet
. 2022 Mar;
141(3-4):431-444.
PMID: 35278131
Sequencing exomes/genomes have been successful for identifying recessive genes; however, discovery of dominant genes including deafness genes (DFNA) remains challenging. We report a new DFNA gene, ATP11A, in a Newfoundland...
5.
Bourgey M, Dali R, Eveleigh R, Chen K, Letourneau L, Fillon J, et al.
Gigascience
. 2019 Jun;
8(6).
PMID: 31185495
Background: With the decreasing cost of sequencing and the rapid developments in genomics technologies and protocols, the need for validated bioinformatics software that enables efficient large-scale data processing is growing....
6.
Levesque S, Morin C, Guay S, Villeneuve J, Marquis P, Yik W, et al.
BMC Med Genet
. 2012 Aug;
13:72.
PMID: 22894767
Background: Zellweger syndrome (ZS) is a peroxisome biogenesis disorder due to mutations in any one of 13 PEX genes. Increased incidence of ZS has been suspected in French-Canadians of the...
7.
Forgetta V, Oughton M, Marquis P, Brukner I, Blanchette R, Haub K, et al.
J Clin Microbiol
. 2011 Apr;
49(6):2230-8.
PMID: 21508155
Clostridium difficile is a common cause of infectious diarrhea in hospitalized patients. A severe and increased incidence of C. difficile infection (CDI) is associated predominantly with the NAP1 strain; however,...