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

Por Hannah-Shmouni, Fady, Sirrs, Sandra, Mezei, Michelle M., Waters, Paula J., Mattman, Andre
Publicado em 2013

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

Por Waters, Paula J., Thuriot, Fanny, Clarke, Joe T.R., Gravel, Serge, Watkins, David, Rosenblatt, David S., Lévesque, Sébastien
Publicado no 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

Por Andrade, Jason, Waters, Paula J., Singh, R. Suneet, Levin, Adeera, Toh, Bee-Chin, Vallance, Hilary D., Sirrs, Sandra
Publicado em 2008

Acute and Chronic Management in an Atypical Case of Ethylmalonic Encephalopathy

Por Kitzler, Thomas M., Gupta, Indra R., Osterman, Bradley, Poulin, Chantal, Trakadis, Yannis, Waters, Paula J., Buhas, Daniela C.
Publicado no JIMD Rep (2018)

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

Por Waters, Paula J., Lace, Baiba, Buhas, Daniela, Gravel, Serge, Cyr, Denis, Boucher, Renée‐Myriam, Bernard, Geneviève, Lévesque, Sébastien, Maranda, Bruno
Publicado no Mol Genet Genomic Med (2019)

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

Por Braun, Ralf J., Dumit, Verónica I., Monpays, Cécile, Roucou, Xavier, Serrano, Daniel, St-Pierre, Julie, Waters, Paula J., Bates, Ian, Gris, Denis
Publicado no Microb Cell (2015)

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

Por 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.
Publicado no Mol Genet Metab Rep (2017)

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

Por 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
Publicado no Can J Public Health (2008)

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

Por 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
Publicado no Neurol Genet (2020)

Versatile and robust genome editing with Streptococcus thermophilus CRISPR1-Cas9

Por 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
Publicado no Genome Res (2020)

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

Por 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
Publicado no JIMD Rep (2017)

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

Por 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
Publicado no Cell Rep (2015)

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

Por 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
Publicado no Orphanet J Rare Dis (2016)

Molecular and Clinical Genetics of Mitochondrial Diseases Due to POLG Mutations

Por 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.
Publicado em 2008

Hypomorphic Temperature-Sensitive Alleles of NSDHL Cause CK Syndrome

Por 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.
Publicado em 2010