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Guylaine D'Amours
Guylaine D'Amours
Fellow, University of Ottawa
Verified email at mail.mcgill.ca
Title
Cited by
Cited by
Year
Rare copy number variants contribute to congenital left-sided heart disease
MP Hitz, LP Lemieux-Perreault, C Marshall, Y Feroz-Zada, R Davies, ...
Public Library of Science 8 (9), e1002903, 2012
1632012
Whole‐genome array CGH identifies pathogenic copy number variations in fetuses with major malformations and a normal karyotype
G D'amours, Z Kibar, G Mathonnet, R Fetni, F Tihy, V Desilets, S Nizard, ...
Clinical genetics 81 (2), 128-141, 2012
1032012
Refining the phenotype associated with biallelic DNAJC21 mutations
G D'Amours, F Lopes, J Gauthier, V Saillour, C Nassif, R Wynn, N Alos, ...
Clinical genetics 94 (2), 252-258, 2018
412018
Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability
R Verheije, GS Kupchik, B Isidor, HY Kroes, SA Lynch, L Hawkes, ...
European Journal of Human Genetics 27 (2), 278-290, 2019
342019
Differential gene expression profiling in the mouse brain during motor skill learning: focus on the striatum structure
G D’Amours, G Bureau, MJ Boily, M Cyr
Behavioural brain research 221 (1), 108-117, 2011
262011
SNP arrays: comparing diagnostic yields for four platforms in children with developmental delay.
G D'Amours, M Langlois, R Fetni, G Mathonnet, S Nizard, M Srour, F Tihy, ...
BMC Medical Genomics 7, 70, 2014
252014
A variant of neonatal progeroid syndrome, or Wiedemann–Rautenstrauch syndrome, is associated with a nonsense variant in POLR3GL
E Beauregard-Lacroix, S Salian, H Kim, S Ehresmann, G DʹAmours, ...
European Journal of Human Genetics 28 (4), 461-468, 2020
242020
Prenatal pleural effusions and chylothorax: An unusual presentation for CM‐AVM syndrome due to RASA1
G D'Amours, C Brunel‐Guitton, MA Delrue, J Dubois, S Laberge, ...
American Journal of Medical Genetics Part A 182 (10), 2454-2460, 2020
62020
Correction: Rare Copy Number Variants Contribute to Congenital Left-Sided Heart Disease
MP Hitz, LP Lemieux-Perreault, C Marshall, Y Feroz-Zada, R Davies, ...
PLoS genetics 9 (3), 2013
22013
First tier rapid whole genome sequencing increases diagnostic yield and changes management in children admitted in intensive care
G D’Amours, J Gauthier, F Hamdan, A Meleu, C Maftei, JF Soucy, ...
Molecular Genetics and Metabolism 132, S102, 2021
2021
MAGEL2 in the prenatal setting: Beyond fetal akinesia and arthrogryposis
G D'Amours, F Rossignol, F Rypens, S Naudion, A Trimouille, E Lasseaux, ...
EUROPEAN JOURNAL OF HUMAN GENETICS 27, 877-878, 2019
2019
BIALLELIC DNAJC21 MUTATIONS CAUSE BONE MARROW FAILURE SYNDROME 3: A NEW RIBOSOMOPATHY OR TELOMEROPATHY? HOW ABOUT BOTH...
G D'Amours, F Lopes, J Gauthier, V Saillour, C Nassif, R Wynn, N Alos, ...
AMERICAN JOURNAL OF MEDICAL GENETICS PART A 179 (4), 738-738, 2019
2019
Deletions and mutations of MEIS2 cause a triad of palatal defects, congenital heart defects and intellectual disability
R Verheije, GS Kukpchik, B Isidor, HY Kroes, SA Lynch, L Hawkes, ...
Abstract book, 68-68, 2018
2018
DNAJC21 Founder Mutation in Four Patients: Confirmation of the Link with Bone Marrow Failure and Expansion of the Phenotype
G D'Amours, F Lopez, J Gauthier, V Saillour, C Nassif, VA Pelletier, ...
PEDIATRIC BLOOD & CANCER 64, S27-S28, 2017
2017
Évaluation du caryotype moléculaire en tant qu’outil diagnostique chez les enfants avec déficience intellectuelle et/ou malformations congénitales
G D'Amours
2013
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Articles 1–15