P. Waters

发表

Clinical validity of phenotype-driven analysis software PhenoVar as a diagnostic aid for clinical geneticists in the interpretation of whole-exome sequencing data

P. Jacques, S. Lévesque, F. Thuriot, 2018, Genetics in Medicine.

Alterations in protein aggregation and degradation due to mild and severe missense mutations (A104D, R157N) in the human phenylalanine hydroxylase gene (PAH)

P. Waters, M. Parniak, C. Scriver, 1998, Human mutation.

Missense mutations in the phenylalanine hydroxylase gene (PAH) can cause accelerated proteolytic turnover of PAH enzyme: A mechanism underlying phenylketonuria

P. Waters, M. Parniak, C. Scriver, 1999, Journal of Inherited Metabolic Disease.

Homomeric and heteromeric interactions between wild-type and mutant phenylalanine hydroxylase subunits: evaluation of two-hybrid approaches for functional analysis of mutations causing hyperphenylalaninemia.

P. Waters, M. Parniak, C. Scriver, 2001, Molecular genetics and metabolism.

Characterization of phenylketonuria missense substitutions, distant from the phenylalanine hydroxylase active site, illustrates a paradigm for mechanism and potential modulation of phenotype.

P. Waters, M. Parniak, C. Scriver, 2000, Molecular Genetics and Metabolism.

Monogenic traits are not simple: lessons from phenylketonuria.

C R Scriver, P. Waters, C. Scriver, 1999, Trends in genetics : TIG.

Analysis of Phenylalanine Hydroxylase Genotypes and Hyperphenylalaninemia Phenotypes Using L-[1-13C]Phenylalanine Oxidation Rates in Vivo: A Pilot Study1

P. Waters, M. Lambert, C. Scriver, 1997, Pediatric Research.

In vitro expression analysis of mutations in phenylalanine hydroxylase: Linking genotype to phenotype and structure to function

P. Waters, M. Parniak, C. Scriver, 1998, Human mutation.

Mutation at the phenylalanine hydroxylase gene (PAH) and its use to document population genetic variation: the Quebec experience

P. Waters, M. Lambert, R. Laframboise, 1998, European Journal of Human Genetics.

Two mtDNA mutations 14487T>C (M63V, ND6) and 12297T>C (tRNA Leu) in a Leigh syndrome family.

B. Graham, P. Waters, L. Wong, 2009, Molecular genetics and metabolism.

Carnitine transporter defect due to a novel mutation in the SLC22A5 gene presenting with peripheral neuropathy

N. Longo, P. Waters, M. Pasquali, 2004, Journal of Inherited Metabolic Disease.

Acute and Chronic Management in an Atypical Case of Ethylmalonic Encephalopathy.

P. Waters, Y. Trakadis, C. Poulin, 2019, JIMD reports.

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

P. Waters, B. Plecko, S. Stockler-Ipsiroglu, 2009, Annals of neurology.

Molecular and clinical genetics of mitochondrial diseases due to POLG mutations

J. Ganesh, A. Vanderver, N. Brunetti‐Pierri, 2008, Human mutation.

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

R. Wanders, R. Wanders, P. Waters, 2009, Molecular genetics and metabolism.

Vitamin B12 deficiency in inflammatory bowel disease: a prospective observational pilot study

A. Bitton, E. Seidman, M. Sewitch, 2017, European journal of gastroenterology & hepatology.

Overexpression of human antiquitin in E. coli: enzymatic characterization of twelve ALDH7A1 missense mutations associated with pyridoxine-dependent epilepsy.

P. Waters, M. Coulter-Mackie, S. Stockler, 2012, Molecular genetics and metabolism.

Variability of Phenotype in Two Sisters with Pyridoxine Dependent Epilepsy

P. Waters, M. Coulter-Mackie, S. Stockler-Ipsiroglu, 2012, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.

Screening for Fabry disease in patients with chronic kidney disease: limitations of plasma alpha-galactosidase assay as a screening test.

A. Levin, P. Waters, J. Andrade, 2008, Clinical journal of the American Society of Nephrology : CJASN.

A variant of unknown significance in the GLA gene causing diagnostic uncertainty in a young female with isolated hypertrophic cardiomyopathy.

P. Waters, K. Al-Thihli, R. Salvarinova, 2012, Gene.

Molecular diagnosis of muscular diseases in outpatient clinics

P. Jacques, S. Lévesque, F. Thuriot, 2020, Neurology: Genetics.

Measurement of Sialic Acid in Serum and Urine: Clinical Applications and Limitations

P. Waters, C. Pennock, E. Lewry, 1992, Annals of clinical biochemistry.

Molecular Diagnosis of Pompe Disease in the Genomic Era: Correlation with Acid Alpha-Glucosidase Activity in Dried Blood Spots

S. Lévesque, F. Thuriot, Elaine Gravel, 2021, Journal of clinical medicine.

Propionic acidemia in mice: Liver acyl-CoA levels and clinical course.

P. Waters, Shupei Wang, Gongshe Yang, 2021, Molecular genetics and metabolism.

Human phenylalanine hydroxylase mutations and hyperphenylalaninemia phenotypes: a metanalysis of genotype-phenotype correlations.

P. Waters, C. Scriver, E. Treacy, 1997, American journal of human genetics.

Rapidly progressive neurological deterioration in a child with Alpers syndrome exhibiting a previously unremarkable brain MRI.

N. Brunetti‐Pierri, P. Waters, L. Wong, 2008, Neuropediatrics.

Autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia: evidence of a phenotypic continuum between dominant and recessive forms.

N. Blau, P. Waters, G. Horvath, 2008, Molecular genetics and metabolism.

Hypersuccinylacetonaemia and normal liver function in maleylacetoacetate isomerase deficiency

P. Waters, G. Mitchell, Francis Rossignol, 2016, Journal of Medical Genetics.

Urinary AASA excretion is elevated in patients with molybdenum cofactor deficiency and isolated sulphite oxidase deficiency

P. Waters, P. Clayton, C. Jakobs, 2012, Journal of Inherited Metabolic Disease.

Profound Neonatal Hypoglycemia and Lactic Acidosis Caused by Pyridoxine-Dependent Epilepsy

P. Waters, G. Horvath, M. Connolly, 2012, Pediatrics.

Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome.

Steven J. M. Jones, Ryan D. Morin, Richard A. Moore, 2010, American journal of human genetics.

Versatile and robust genome editing with Streptococcus thermophilus CRISPR1-Cas9

J. Rivest, Y. Doyon, P. Waters, 2019, Genome research.

Versatile genome editing with the prototypical Streptococcus thermophilus CRISPR1-Cas9 system

Y. Doyon, P. Waters, D. Cyr, 2018, bioRxiv.

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

J. Rioux, V. Mootha, C. Laprise, 2015, Cell reports.

Using next‐generation sequencing for the diagnosis of rare disorders: a family with retinitis pigmentosa and skeletal abnormalities

Steven J. M. Jones, B. Fernandez, T. Nielsen, 2011, The Journal of pathology.

A Canadian perspective

P. Jacques, S. Lévesque, F. Thuriot, 2020 .

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

P. Jacques, S. Lévesque, Elaine Gravel, 2016, Orphanet Journal of Rare Diseases.

Infantile cardioencephalopathy due to a COX15 gene defect: Report and review

J. Shoffner, P. Waters, H. Vallance, 2011, American journal of medical genetics. Part A.

PAHdb 2003: What a locus‐specific knowledgebase can do

Lynne Prevost, Manyphong Phommarinh, P. Waters, 2003, Human mutation.

How PAH gene mutations cause hyper‐phenylalaninemia and why mechanism matters: Insights from in vitro expression

P. Waters, 2003, Human mutation.

PAHdb: A locus‐specific knowledgebase

C R Scriver, Jaroslav P Novak, P. Waters, 2000, Human mutation.

Monogenic traits are not simple

P. Waters, C. Scriver, 1999 .

Neonatal hyperphenylalaninemia, perinatal hemochromatosis, and renal tubulopathy: a unique patient or a novel metabolic disorder?

M. Demos, N. Blau, P. Waters, 2005, Molecular genetics and metabolism.

Degradation of mutant proteins, underlying "loss of function" phenotypes, plays a major role in genetic disease.

P. Waters, 2001, Current issues in molecular biology.

The multiple facets of acetyl-CoA metabolism: Energetics, biosynthesis, regulation, acylation and inborn errors.

P. Waters, Shupei Wang, G. Mitchell, 2022, Molecular genetics and metabolism.

Cardiac-specific deficiency of 3-hydroxy-3-methylglutaryl coenzyme A lyase in mice causes cardiomyopathy and a distinct pattern of acyl-coenzyme A-related biomarkers.

E. Schiffrin, P. Waters, Shupei Wang, 2022, Molecular genetics and metabolism.

Clinical validity of phenotype-driven analysis software PhenoVar as a diagnostic aid for clinical geneticists in the interpretation of whole-exome sequencing data

P. Jacques, S. Lévesque, F. Thuriot, 2018, Genetics in Medicine.

Orbicularis oculi muscle biopsies for mitochondrial DNA analysis in suspected mitochondrial myopathy

P. Waters, P. Dolman, G. Moore, 2012, British Journal of Ophthalmology.

Progression of organ manifestations upon enzyme replacement therapy in a patient with mucopolysaccharidosis type I/Hurler

C. Reilly, P. Waters, S. Mercimek-Mahmutoglu, 2009, World journal of pediatrics : WJP.

Clinical utility of methionine restriction in adenosine kinase deficiency

P. Waters, C. Saint-Martin, N. Braverman, 2021, JIMD reports.

Hemiplegic migraine, seizures, progressive spastic paraparesis, mood disorder, and coma in siblings with low systemic serotonin

K. Poskitt, P. Waters, G. Horvath, 2011, Cephalalgia : an international journal of headache.

Isolated sulfite oxidase deficiency in the newborn: lactic acidaemia and leukoencephalopathy.

K. Poskitt, P. Waters, C. Lam, 2007, Neuropediatrics.

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

P. Waters, A. Mattman, S. Sirrs, 2013, JIMD reports.

Combined malonic and methylmalonic aciduria due to ACSF3 mutations: Benign clinical course in an unselected cohort

S. Lévesque, B. Maranda, P. Waters, 2018, Journal of inherited metabolic disease.

Expanding the clinical phenotype of the mitochondrial m.13513G>A mutation with the first report of a fatal neonatal presentation

C. V. van Karnebeek, P. Waters, L. Wong, 2011, Developmental medicine and child neurology.

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

Thomas M. Kitzler, P. Waters, Y. Trakadis, 2018, JIMD reports.

Combined malonic and methylmalonic aciduria due to ACSF3 mutations: benign clinical course in an unselected cohort

S. Lévesque, B. Maranda, P. Waters, 2018, Journal of Inherited Metabolic Disease.

Newborn screening for MCAD deficiency: experience of the first three years in British Columbia, Canada.

B. Andresen, P. Waters, G. Horvath, 2008, Canadian journal of public health = Revue canadienne de sante publique.

Newborn Screening for MCAD Deficiency

B. Andresen, P. Waters, G. Horvath, 2008 .

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

S. Lévesque, F. Thuriot, P. Waters, 2016, Molecular genetics and metabolism reports.

Three years experience with dried blood spot α-glucosidase screening for Pompe disease in British Columbia, Canada

P. Waters, G. Horvath, H. Vallance, 2013, BMC Musculoskeletal Disorders.

Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences

E. Pai, R. Rodenburg, T. Yuzyuk, 2017, Journal of Inherited Metabolic Disease.

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

P. Waters, G. Mitchell, Francis Rossignol, 2017, Molecular genetics and metabolism reports.

Mutation detection in DNA isolated from cerebrospinal fluid and urine: Clinical utility and pitfalls of multiple displacement amplification.

P. Waters, B. Plecko, S. Stockler-Ipsiroglu, 2009, Molecular genetics and metabolism.

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

S. Lévesque, B. Maranda, P. Waters, 2019, Molecular genetics & genomic medicine.

6‐Pyruvoyl‐tetrahydropterin synthase deficiency with mild hyperphenylalaninemia

M. Demos, N. Blau, P. Waters, 2005, Annals of neurology.

Association between Serum Cholesterol and Leucocyte Lysosomal Function

P. Waters, M. Flynn, C. Pennock, 1994, Annals of clinical biochemistry.

Diagnosis and management of patients with mitochondrial disease

P. Waters, H. Vallance, G. Sinclair, 2011 .

6‐Pyruvoyl‐tetrahydropterin synthase deficiency with mild hyperphenylalaninemia

M. Demos, N. Blau, P. Waters, 2005, Annals of neurology.

A variant of unknown significance in the GLA gene causing diagnostic uncertainty in a young female with isolated hypertrophic cardiomyopathy.

P. Waters, K. Al-Thihli, R. Salvarinova, 2012, Gene.