| Fluorometric assay of neuraminidase with a sodium (4-methylumbelliferyl-α-dN-acetylneuraminate) substrate M Potier, L Mameli, M Belisle, L Dallaire, SB Melancon Analytical biochemistry 94 (2), 287-296, 1979 | 948 | 1979 |
| ARSACS, a spastic ataxia common in northeastern Quebec, is caused by mutations in a new gene encoding an 11.5-kb ORF JC Engert, P Bérubé, J Mercier, C Doré, P Lepage, B Ge, JP Bouchard, ... Nature genetics 24 (2), 120-125, 2000 | 485 | 2000 |
| Clinical and molecular phenotype of Aicardi-Goutieres syndrome G Rice, T Patrick, R Parmar, CF Taylor, A Aeby, J Aicardi, R Artuch, ... The American Journal of Human Genetics 81 (4), 713-725, 2007 | 479 | 2007 |
| Phenotypic variability in Friedreich ataxia: role of the associated GAA triplet repeat expansion L Montermini, A Richeter, K Morgan, CM Justice, D Julien, B Castellotti, ... Annals of Neurology: Official Journal of the American Neurological …, 1997 | 306 | 1997 |
| Camurati-Engelmann disease: review of the clinical, radiological, and molecular data of 24 families and implications for diagnosis and treatment K Janssens, F Vanhoenacker, M Bonduelle, L Verbruggen, ... Journal of medical genetics 43 (1), 1-11, 2006 | 270 | 2006 |
| Neurologic crises in hereditary tyrosinemia G Mitchell, J Larochelle, M Lambert, J Michaud, A Grenier, H Ogier, ... New England Journal of Medicine 322 (7), 432-437, 1990 | 256 | 1990 |
| GAA instability in Friedreich's Ataxia shares a common, DNA-directed and intraallelic mechanism with other trinucleotide diseases AM Gacy, GM Goellner, C Spiro, X Chen, G Gupta, EM Bradbury, RB Dyer, ... Molecular cell 1 (4), 583-593, 1998 | 202 | 1998 |
| Autosomal recessive spastic ataxia of Charlevoix–Saguenay JP Bouchard, A Richter, J Mathieu, D Brunet, TJ Hudson, K Morgan, ... Neuromuscular disorders 8 (7), 474-479, 1998 | 183 | 1998 |
| Effect of nitisinone (NTBC) treatment on the clinical course of hepatorenal tyrosinemia in Québec J Larochelle, F Alvarez, JF Bussières, I Chevalier, L Dallaire, J Dubois, ... Molecular genetics and metabolism 107 (1-2), 49-54, 2012 | 165 | 2012 |
| Free malondialdehyde determination in human plasma by high-performance liquid chromatography C Largillière, SB Mélancon Analytical biochemistry 170 (1), 123-126, 1988 | 151 | 1988 |
| Reduced sodium/proton exchanger NHE3 activity causes congenital sodium diarrhea AR Janecke, P Heinz-Erian, J Yin, BS Petersen, A Franke, S Lechner, ... Human molecular genetics 24 (23), 6614-6623, 2015 | 143 | 2015 |
| Urinary globotriaosylceramide excretion correlates with the genotype in children and adults with Fabry disease C Auray-Blais, D Cyr, A Ntwari, ML West, J Cox-Brinkman, DG Bichet, ... Molecular genetics and metabolism 93 (3), 331-340, 2008 | 120 | 2008 |
| Genetic homogeneity at the Friedreich ataxia locus on chromosome 9 S Chamberlain, J Shaw, J Wallis, A Rowland, L Chow, M Farrall, B Keats, ... American journal of human genetics 44 (4), 518, 1989 | 108 | 1989 |
| Location score and haplotype analyses of the locus for autosomal recessive spastic ataxia of Charlevoix-Saguenay, in chromosome region 13q11 A Richter, JD Rioux, JP Bouchard, J Mercier, J Mathieu, B Ge, J Poirier, ... The American Journal of Human Genetics 64 (3), 768-775, 1999 | 104 | 1999 |
| Cultivated epithelial-like cells and fibroblasts from amniotic fluid: Their relationship to enzymatic and cytologic analysis AB Gerbie, SB Melancon, C Ryan, HL Nadler American Journal of Obstetrics and Gynecology 114 (3), 314-320, 1972 | 89 | 1972 |
| Clinical spectrum of infantile free sialic acid storage disease E Lemyre, P Russo, SB Melançon, R Gagne, M Potier, M Lambert American journal of medical genetics 82 (5), 385-391, 1999 | 87 | 1999 |
| Prenatal diagnosis of fetal anomalies during the second trimester of pregnancy: their characterization and delineation of defects in pregnancies at risk L Dallaire, J Michaud, SB Melancon, M Potter, M Lambert, G Mitchell, ... Prenatal diagnosis 11 (8), 629-635, 1991 | 78 | 1991 |
| Heparin cofactor II–thrombin complex: a biomarker of MPS disease DR Randall, KE Colobong, H Hemmelgarn, GB Sinclair, E Hetty, ... Molecular genetics and metabolism 94 (4), 456-461, 2008 | 76 | 2008 |
| An unusual splicing mutation in the HEXB gene is associated with dramatically different phenotypes in patients from different racial backgrounds. B McInnes, M Potier, N Wakamatsu, SB Melancon, MH Klavins, S Tsuji, ... The Journal of clinical investigation 90 (2), 306-314, 1992 | 76 | 1992 |
| Differences in the damage caused by glaze ice on codominant Acer saccharum and Fagus grandifolia S Melancon, MJ Lechowicz Canadian Journal of Botany 65 (6), 1157-1159, 1987 | 76 | 1987 |
