Paula J. Waters

Molecular and clinical genetics of mitochondrial diseases due to<i>POLG</i>mutations

Lee-Jun Wong, Robert K. Naviaux, Nicola Brunetti‐Pierri et al. · Human Mutation · 2008 · 287 citations · Full text

Genetics, Molecular Genetics, Disease Gene Identification +18

Folinic acid–responsive seizures are identical to pyridoxine‐dependent epilepsy

Renata C. Gallagher, Johan L.K. Van Hove, Gunter Scharer et al. · Annals of Neurology · 2009 · 185 citations

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

Julie Legault, Laura Strittmatter, Jessica Tardif et al. · Cell Reports · 2015 · 147 citations · Full text

PAHdb: A locus-specific knowledgebase

Charles R. Scriver, Paula J. Waters, Christineh N. Sarkissian et al. · Human Mutation · 2000 · 89 citations · Full text

The paradox of the carnitine palmitoyltransferase type Ia P479L variant in Canadian Aboriginal populations

Cheryl R. Greenberg, Louise A. Dilling, Gilbert R. Thompson et al. · Molecular Genetics and Metabolism · 2009 · 79 citations

Biology, Canadian Aboriginal Populations, Phylogenetics +6