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

由 Hannah-Shmouni, Fady, Sirrs, Sandra, Mezei, Michelle M., Waters, Paula J., Mattman, Andre
出版 2013

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

由 Waters, Paula J., Thuriot, Fanny, Clarke, Joe T.R., Gravel, Serge, Watkins, David, Rosenblatt, David S., Lévesque, Sébastien
發表在 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

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

Acute and Chronic Management in an Atypical Case of Ethylmalonic Encephalopathy

由 Kitzler, Thomas M., Gupta, Indra R., Osterman, Bradley, Poulin, Chantal, Trakadis, Yannis, Waters, Paula J., Buhas, Daniela C.
發表在 JIMD Rep (2018)

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

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

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

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

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

由 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.
發表在 Mol Genet Metab Rep (2017)

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

由 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
發表在 Can J Public Health (2008)

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

由 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
發表在 Neurol Genet (2020)

Versatile and robust genome editing with Streptococcus thermophilus CRISPR1-Cas9

由 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
發表在 Genome Res (2020)

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

由 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
發表在 JIMD Rep (2017)

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

由 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
發表在 Cell Rep (2015)

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

由 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
發表在 Orphanet J Rare Dis (2016)

Molecular and Clinical Genetics of Mitochondrial Diseases Due to POLG Mutations

由 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.
出版 2008

Hypomorphic Temperature-Sensitive Alleles of NSDHL Cause CK Syndrome

由 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.
出版 2010