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 | 163 | 2012 |
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 | 103 | 2012 |
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 | 41 | 2018 |
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 | 34 | 2019 |
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 | 26 | 2011 |
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 | 25 | 2014 |
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 | 24 | 2020 |
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 | 6 | 2020 |
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 | 2 | 2013 |
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 |