Christiane Auray‐Blais

Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project

David McHugh, Cynthia A. Cameron, José E. Abdenur et al. · Genetics in Medicine · 2011 · 352 citations · Full text

Medicine, Biochemistry, Mass Spectrometric Analysis +16

Loss-of-function mutations in the glutamate transporter SLC1A1 cause human dicarboxylic aminoaciduria

Charles G. Bailey, Renae M. Ryan, Annora Thoeng et al. · Journal of Clinical Investigation · 2010 · 163 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Lentivirus-mediated gene therapy for Fabry disease

Dwayne L. Barber, Ju Huang, C. Anthony Rupar et al. · Nature Communications · 2021 · 118 citations · Full text

Medicine, Hematology, Translational Sciences +13

Iminoglycinuria and hyperglycinuria are discrete human phenotypes resulting from complex mutations in proline and glycine transporters

Stefan Bröer, Charles G. Bailey, Sonja Kowalczuk et al. · Journal of Clinical Investigation · 2008 · 116 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Efficient analysis of urinary glycosaminoglycans by LC-MS/MS in mucopolysaccharidoses type I, II and VI

Christiane Auray‐Blais, Patrick Bhérer, René Gagnon et al. · Molecular Genetics and Metabolism · 2010 · 108 citations

Life Sciences, Biochemistry, Pathology +4