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Journal of Medical Genetics|November 24, 2016
Hypersuccinylacetonaemia and normal liver function in maleylacetoacetate isomerase deficiencyHao Yang, Walla Al-Hertani, Denis Cyr, et al.
Genetics|August 23, 2024
In vivo dissection of the mouse tyrosine catabolic pathway with CRISPR-Cas9 identifies modifier genes affecting hereditary tyrosinemia type 1Jean-François Rivest, Sophie Carter, Claudia Goupil, et al.
Genome Research|January 5, 2020
Versatile and robust genome editing with Streptococcus thermophilus CRISPR1-Cas9Daniel Agudelo, Sophie Carter, Minja Velimirovic, et al.
Molecular Genetics and Metabolism|November 21, 2007
Urinary globotriaosylceramide excretion correlates with the genotype in children and adults with Fabry diseaseChristiane Auray-Blais, Denis Cyr, Aimé Ntwari, et al.
Cell Reports|November 14, 2015
A Metabolic Signature of Mitochondrial Dysfunction Revealed through a Monogenic Form of Leigh SyndromeJulie Thompson Legault, Laura Strittmatter, Jessica Tardif, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 18, 2011
Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative projectDavid M S McHugh, Cynthia A Cameron, Jose E Abdenur, et al.
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