Paula J Waters

Publication Activity (10 Years)

Years Active: 2019-2024
Publications (10 Years): 7

Top Topics

Duchenne Muscular Dystrophy

Patient Reported Outcomes

Top Venues

Current protocols

Molecular genetics & genomic medicine

Genome research

Journal of clinical medicine

This page only lists publications with an associated author ORCID identifier.

Publications

Michel Boutin, Bruno Maranda, Paula J Waters
Analysis of Globotriaosylceramide (Gb 3 ) in Liquid Urine: A Straightforward Assay Using Tandem Mass Spectrometry. Current protocols 4 (6) (2024)
Jean-François Rivest, Sophie Carter, Claudia Goupil, Pénélope Antérieux, Denis Cyr, Roth-Visal Ung, Dorothée Dal Soglio, Fabrice Mac-Way, Paula J Waters, Massimiliano Paganelli, Yannick Doyon
In vivo dissection of the mouse tyrosine catabolic pathway with CRISPR-Cas9 identifies modifier genes affecting hereditary tyrosinemia type 1. Genetics (2024)
Michel Boutin, Bruno Maranda, Paula J Waters
Analysis of Globotriaosylceramide (Gb 3 ) in Liquid Urine: A Straightforward Assay Using Tandem Mass Spectrometry. Current protocols 4 (6) (2024)
Fanny Thuriot, Elaine Gravel, Katherine Hodson, Jorge Ganopolsky, Bojana Rakic, Paula J Waters, Serge Gravel, Sebastien Levesque
Molecular Diagnosis of Pompe Disease in the Genomic Era: Correlation with Acid Alpha-Glucosidase Activity in Dried Blood Spots. Journal of clinical medicine 10 (17) (2021)
Fanny Thuriot, Elaine Gravel, Caroline Buote, Marianne Doyon, Elvy Lapointe, Lydia Marcoux, Sandrine Larue, Amélie Nadeau, Sébastien Chénier, Paula J Waters, Pierre-Étienne Jacques, Serge Gravel, Sébastien Lévesque
Molecular diagnosis of muscular diseases in outpatient clinics: A Canadian perspective. Neurology. Genetics 6 (2) (2020)
Daniel Agudelo, Sophie Carter, Minja Velimirovic, Alexis Duringer, Jean-François Rivest, Sébastien Levesque, Jérémy Loehr, Mathilde Mouchiroud, Denis Cyr, Paula J Waters, Mathieu Laplante, Sylvain Moinau, Adeline Goulet, Yannick Doyon
Versatile and robust genome editing with Streptococcus thermophilus CRISPR1-Cas9. Genome research 30 (1) (2020)
Paula J Waters, Baiba Lace, Daniela Buhas, Serge Gravel, Denis Cyr, Renée-Myriam Boucher, Geneviève Bernard, Sébastien Lévesque, Bruno Maranda
HSD10 mitochondrial disease: p.Leu122Val variant, mild clinical phenotype, and founder effect in French-Canadian patients from Quebec. Molecular genetics & genomic medicine 7 (12) (2019)