Increased Prevalence of Hypertension in Young Adults with High Heteroplasmy Levels of the MELAS m.3243A>G Mutation

Bằng Hannah-Shmouni, Fady, Sirrs, Sandra, Mezei, Michelle M., Waters, Paula J., Mattman, Andre
Được phát hành 2013

Methylmalonyl-coA epimerase deficiency: A new case, with an acute metabolic presentation and an intronic splicing mutation in the MCEE gene

Bằng Waters, Paula J., Thuriot, Fanny, Clarke, Joe T.R., Gravel, Serge, Watkins, David, Rosenblatt, David S., Lévesque, Sébastien
Xuất bản năm Mol Genet Metab Rep (2016)

Screening for Fabry Disease in Patients with Chronic Kidney Disease: Limitations of Plasma α-Galactosidase Assay as a Screening Test

Bằng Andrade, Jason, Waters, Paula J., Singh, R. Suneet, Levin, Adeera, Toh, Bee-Chin, Vallance, Hilary D., Sirrs, Sandra
Được phát hành 2008

Acute and Chronic Management in an Atypical Case of Ethylmalonic Encephalopathy

Bằng Kitzler, Thomas M., Gupta, Indra R., Osterman, Bradley, Poulin, Chantal, Trakadis, Yannis, Waters, Paula J., Buhas, Daniela C.
Xuất bản năm JIMD Rep (2018)

HSD10 mitochondrial disease: p.Leu122Val variant, mild clinical phenotype, and founder effect in French‐Canadian patients from Quebec

Bằng Waters, Paula J., Lace, Baiba, Buhas, Daniela, Gravel, Serge, Cyr, Denis, Boucher, Renée‐Myriam, Bernard, Geneviève, Lévesque, Sébastien, Maranda, Bruno
Xuất bản năm Mol Genet Genomic Med (2019)

Struggling for breath in Sherbrooke - 1st Symposium on “One mitochondrion, many diseases” in Sherbrooke, Québec, Canada, March 11th, 2015

Bằng Braun, Ralf J., Dumit, Verónica I., Monpays, Cécile, Roucou, Xavier, Serrano, Daniel, St-Pierre, Julie, Waters, Paula J., Bates, Ian, Gris, Denis
Xuất bản năm Microb Cell (2015)

Mildly elevated succinylacetone and normal liver function in compound heterozygotes with pathogenic and pseudodeficient FAH alleles

Bằng Yang, Hao, Rossignol, Francis, Cyr, Denis, Laframboise, Rachel, Wang, Shu Pei, Soucy, Jean-François, Berthier, Marie-Thérèse, Giguère, Yves, Waters, Paula J., Mitchell, Grant A.
Xuất bản năm Mol Genet Metab Rep (2017)

Newborn Screening for MCAD Deficiency: Experience of the First Three Years in British Columbia, Canada

Bằng Horvath, Gabriella A., Davidson, A. G. F., Stockler-Ipsiroglu, Sylvia G., Lillquist, Yolanda P., Waters, Paula J., Olpin, S., Andresen, B. S., Palaty, Jan, Nelson, Judie, Vallance, Hilary
Xuất bản năm Can J Public Health (2008)

Molecular diagnosis of muscular diseases in outpatient clinics: A Canadian perspective

Bằng Thuriot, Fanny, Gravel, Elaine, Buote, Caroline, Doyon, Marianne, Lapointe, Elvy, Marcoux, Lydia, Larue, Sandrine, Nadeau, Amélie, Chénier, Sébastien, Waters, Paula J., Jacques, Pierre-Étienne, Gravel, Serge, Lévesque, Sébastien
Xuất bản năm Neurol Genet (2020)

Versatile and robust genome editing with Streptococcus thermophilus CRISPR1-Cas9

Bằng Agudelo, Daniel, Carter, Sophie, Velimirovic, Minja, Duringer, Alexis, Rivest, Jean-François, Levesque, Sébastien, Loehr, Jeremy, Mouchiroud, Mathilde, Cyr, Denis, Waters, Paula J., Laplante, Mathieu, Moineau, Sylvain, Goulet, Adeline, Doyon, Yannick
Xuất bản năm Genome Res (2020)

Glutaric Aciduria Type 3: Three Unrelated Canadian Cases, with Different Routes of Ascertainment

Bằng Waters, Paula J., Kitzler, Thomas M., Feigenbaum, Annette, Geraghty, Michael T., Al-Dirbashi, Osama, Bherer, Patrick, Auray-Blais, Christiane, Gravel, Serge, McIntosh, Nathan, Siriwardena, Komudi, Trakadis, Yannis, Brunel-Guitton, Catherine, Al-Hertani, Walla
Xuất bản năm JIMD Rep (2017)

A Metabolic Signature of Mitochondrial Dysfunction Revealed through a Monogenic Form of Leigh Syndrome

Bằng Thompson Legault, Julie, Strittmatter, Laura, Tardif, Jessica, Sharma, Rohit, Tremblay-Vaillancourt, Vanessa, Aubut, Chantale, Boucher, Gabrielle, Clish, Clary B., Cyr, Denis, Daneault, Caroline, Waters, Paula J., Vachon, Luc, Morin, Charles, Laprise, Catherine, Rioux, John D., Mootha, Vamsi K., Des Rosiers, Christine
Xuất bản năm Cell Rep (2015)

Diagnosis of late-onset Pompe disease and other muscle disorders by next-generation sequencing

Bằng Lévesque, Sébastien, Auray-Blais, Christiane, Gravel, Elaine, Boutin, Michel, Dempsey-Nunez, Laura, Jacques, Pierre-Etienne, Chenier, Sébastien, Larue, Sandrine, Rioux, Marie-France, Al-Hertani, Walla, Nadeau, Amelie, Mathieu, Jean, Maranda, Bruno, Désilets, Valérie, Waters, Paula J., Keutzer, Joan, Austin, Stephanie, Kishnani, Priya
Xuất bản năm Orphanet J Rare Dis (2016)

Molecular and Clinical Genetics of Mitochondrial Diseases Due to POLG Mutations

Bằng Wong, Lee-Jun C., Naviaux, Robert K., Brunetti-Pierri, Nicola, Zhang, Qing, Schmitt, Eric S., Truong, Cavatina, Milone, Margherita, Cohen, Bruce H., Wical, Beverly, Ganesh, Jaya, Basinger, Alice A., Burton, Barbara K., Swoboda, Kathryn, Gilbert, Donald L., Vanderver, Adeline, Saneto, Russell P., Maranda, Bruno, Arnold, Georgianne, Abdenur, Jose E., Waters, Paula J., Copeland, William C.
Được phát hành 2008

Hypomorphic Temperature-Sensitive Alleles of NSDHL Cause CK Syndrome

Bằng McLarren, Keith W., Severson, Tesa M., du Souich, Christèle, Stockton, David W., Kratz, Lisa E., Cunningham, David, Hendson, Glenda, Morin, Ryan D., Wu, Diane, Paul, Jessica E., An, Jianghong, Nelson, Tanya N., Chou, Athena, DeBarber, Andrea E., Merkens, Louise S., Michaud, Jacques L., Waters, Paula J., Yin, Jingyi, McGillivray, Barbara, Demos, Michelle, Rouleau, Guy A., Grzeschik, Karl-Heinz, Smith, Raffaella, Tarpey, Patrick S., Shears, Debbie, Schwartz, Charles E., Gecz, Jozef, Stratton, Michael R., Arbour, Laura, Hurlburt, Jane, Van Allen, Margot I., Herman, Gail E., Zhao, Yongjun, Moore, Richard, Kelley, Richard I., Jones, Steven J.M., Steiner, Robert D., Raymond, F. Lucy, Marra, Marco A., Boerkoel, Cornelius F.
Được phát hành 2010