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Paula Waters

Professeure associée, Faculté de médecine et des sciences de la santé
FMSS Département de pédiatrie


Sujet de recherche

Désordres métaboliques, Génétique appliquée, Génétique moléculaire, Maladies génétiques, Maladies métaboliques, Phénotype

Disciplines de recherche

Biochimie, Génétique



Intérêts de recherche

I am an active participant in collaborative research projects addressing diverse inborn errors, including disorders of amino acid metabolism, organic acid metabolism, fatty acidoxidation and mitochondrial function. Some of these studies contribute to the elucidation of etiology, pathogenesis and natural history, while others focus on improvement of diagnostic testing, management or treatment. Approaches include clinical studies of individual patients and families,population-based studies, and more fundamental research using model systems.

Centre de recherche

Centre de recherche du CHUS

Langues parlées et écrites

Anglais, Français


(1994). (Doctorat, ). University of Bath.

(1989). (Baccalauréat, ). University of Bath.

Titres de compétence

(2004) Fellow of the Canadian College of Medical Geneticists (FCCMG) , Specialization in biochemical genetics. Collège Canadien de Généticiens Médicaux.

Expérience académique

Professeure associée (Affiliate Professor). (2012-). Université de Sherbrooke. Canada.

Biochimiste généticienne (spécialiste clinique en biologie médicale). (2011-). Centre Hospitalier Univ. de Sherbrooke. Canada.

Clinical Associate Professor. (2008-2012). University of British Columbia. Canada.

Clinical Assistant Professor. (2004-2008). University of British Columbia. Canada.

Clinical Instructor. (2002-2004). University of British Columbia. Canada.

Research associate. (1998-2002). McGill University. Canada.

Faculty Lecturer (part-time). (1999-2002). McGill University. Canada.

Post-doctoral research Fellow. (1994-1997). McGill University. Canada.

Prix et distinctions

  • (1993) CASE studentship for doctoral studies. Science and Engineering Research Council. (Distinction).
  • (1989) Best biochemical Research Communication presented. Society for the Study of Inborn Errors of Metabolism. (Distinction).
  • (1989) The Catherine Memorial Prize. University of Bath. (Distinction).


  • Subvention. (Obtenu). Cochercheur. Towards an innovative treatment for pyridoxine dependent epilepsy. Citizens United for Research in Epilepsy (CURE) (USA). Innovator Award. 50 000 $. (2011-2012)
  • Bourse de recherche. Medical Research Council. Postdoctoral Fellowship. (1994-1997)
  • Bourse de recherche. Royal Society (London) through UK-Canadian Scientific Exchange Scheme. Fellowship. (1994)


Articles de revue

  • Youlin Wang 1, Hao Yang 1, Chloé Geerts 1, Alexandra Furtos 2, Paula Waters 3, Denis Cyr 3, Shupei Wang 1, Grant A Mitchell 4. (2023). The multiple facets of acetyl-CoA metabolism: Energetics, biosynthesis, regulation, acylation and inborn errors. Molecular Genetics and Metabolism 138 (1), DOI. (Article publié).
  • Hao Yang 1, Youlin Wang 1, Marie-Christine Tang 2, Paula Waters 3, Shupei Wang 1, Pierre Allard 4, Robert O Ryan 5, Anne-Monique Nuyt 6, Pierre Paradis 7, Ernesto L Schiffrin 7, Alexandra Furtos 2, Grant A Mitchell 8. (2022). Cardiac-specify deficiency of 3-hydroxy-3-methylglutaryl coenzyme A lyase in mice causes cardiomyopathy and a distinct pattern of acyl-coenzyme A-related biomarkers. Molecular Genetics and Metabolism 137 (3), 257-264. DOI. (Article publié).
  • Chen Zhao 1, Youlin Wang 2, Hao Yang 2, Shupei Wang 2, Marie-Christine Tang 3, Denis Cyr 4, Fabienne Parente 5, Pierre Allard 5, Paula Waters 4, Alexandra Furtos 3, Gongshe Yang 6, Grant A Mitchell 7. (2022). Propionic acidemia in mice: Liver acyl-CoA levels and clinical course. Molecular Genetics and metabolism 135 (1), 47-55. DOI. (Article publié).
  • Najmah Almuhsen 1, Simon-Pierre Guay 1, Marie Lefrancois 1, Cheryl Gauvin 1, Al Qasim Al Bahlani 2, Najma Ahmed 2, Christine Saint-Martin 3, Tommy Gagnon 4, Paula Waters 4, Nancy Braverman 5 6, D Buhas 1 5. (2021). Clinical utility of methionine restriction in adenosine kinase deficiency. Journal of Inherited Metabolic Disease 61 (1), 52-59. DOI. (Article publié).
  • Fanny Thuriot 1 2, Elaine Gravel 1 2, Katherine Hodson 3, Jorge Ganopolsky 3, Bojana Rakic 4, Paula J Waters 1, Serge Gravel 1 2, Sébastien Lévesque 1 2. (2021). Molecular Diagnosis of Pompe Disease in the Genomic Era: Correlation with Acid Alpha-Glucosidase Activity in Dried Blood Spots. Journal of Clinical Medicine 10 (17), 3868. DOI. (Article publié).
  • Daniel Agudelo, Sophie Carter, Minja Velimirovic, Alexis Duringer, Jean-François Rivest, Sébastien Levesque, Jeremy Loehr, Mathilde Mouchiroud, Denis Cyr, Paula J. Waters, Mathieu Laplante, Sylvain Moineau, Adeline Goulet and Yannick Doyon. (2020). Genome Research DOI. (Article publié).
  • Fanny Thuriot, MSc, Elaine Gravel, MSc, Caroline Buote, MSc, Marianne Doyon, MD, Elvy Lapointe, MSc, Lydia Marcoux, MSc, Sandrine Larue, MD, Am´elie Nadeau, MD, S´ebastien Ch´enier, MD, Paula J. Waters, PhD, Pierre-´Etienne Jacques, PhD, Serge Gravel, PhD, and S´ebastien L´evesque, MD, PhD. (2020). Molecular diagnosis of muscular diseases in outpatient clinics: A Canadian perspective. Neurology genetics 6 (2), DOI. (Article publié).
  • Kitzler TM, Gupta IR, Osterman B, Poulin C, Trakadis Y Waters PJ, Buhas DC. (2019). Acute and Chronic Management in an Atypical Case of Ethylmalonic Encephalopathy. JIMD reports DOI. (Article publié).
  • Levtova A, Waters PJ, Buhas D Lévesque S, Auray-Blais C Clarke JTR, Laframboise R Maranda B Mitchell GA, Brunel-Guitton C, Braverman NE. (2019). Combined malonic and methylmalonic aciduria due to ACSF3 mutations: Benign clinical course in an unselected cohort. Journal of inherited metabolic disease DOI. (Article publié).
  • Paula J. Waters Baiba Lace Daniela Buhas Serge Gravel Denis Cyr Renée‐Myriam Boucher Geneviève Bernard Sébastien Lévesque Bruno Maranda. (2019). HSD10 mitochondrial disease: p.Leu122Val variant, mild clinical phenotype, and founder effect in French-Canadian patients from Quebec. Molecular genetics & genomic medecine DOI. (Article publié).
  • Thuriot F, Buote C, Gravel E, Chénier S, Désilets V, Maranda B, Waters PJ, Jacques PE, Lévesque S. (2018). Clinical validity of phenotype-driven analysis software PhenoVar as a diagnostic aid for clinical geneticists in the interpretation of whole-exome sequencing data. Genetics in Medicine: official journal of the American College of Medical Genetics DOI. (Article publié).
  • Waters PJ, Kitzler TM, Feigenbaum A, Geraghty MT Al-Dirbashi O Bherer P Auray-Blais C, Gravel S, McIntosh N, Siriwardena K, Trakadis Y, Brunel-Guitton C, Al-Hertani W. (2018). Glutaric Aciduria Type 3: Three Unrelated Canadian Cases, with Different Routes of Ascertainment. JIMD reports DOI. (Article publié).
  • Yang H, Rossignol F, Cyr D, Laframboise R, Wang SP Soucy JF, Berthier MT Giguère Y4, Waters PJ Mitchell GA Québec NTBC Study Group. (2017). FAHMildly elevated succinylacetone and normal liver function in compound heterozygotes with pathogenic and pseudodeficient alleles. Molecular genetics and metabolism reports DOI. (Article publié).
  • Yang H, Al-Hertani W, Cyr D, Laframboise R Parizeault G, Wang SP, Rossignol F, Berthier MT, Giguère Y, Waters PJ, Mitchell GA; Québec NTBC Study Group. (2017). Hypersuccinylacetonaemia and normal liver function in maleylacetoacetate isomerase deficiency. Journal of medical genetics DOI. (Article publié).
  • Wortmann SB, Chen MA, Colombo R, Pontoglio A, Alhaddad B, Botto LD, Yuzyuk T,Coughlin CR, Descartes M, Grűnewald S, Maranda B, Mills PB, Pitt J, Potente C, Rodenburg RKluijtmans LA Sampath S, Pai EF, Wevers RA, Tiller GE; additional individual contributors. (2017). Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences. Journal of inherited metabolic disease DOI. (Article publié).
  • Battat R1, Kopylov U, Byer J, Sewitch MJ, Rahme E, Nedjar H, Zelikovic E, Dionne S, Bessissow T, Afif W, Waters PJ, Seidman E, Bitton A. (2017). Vitamin B12 deficiency in inflammatory bowel disease: a prospective observational pilot study. European journal of gastroenterology & hepatology DOI. (Article publié).
  • Lévesque S, Auray-Blais C, Gravel E, Boutin M, Dempsey-Nunez L, Jacques PE, Chenier S, Larue S, Rioux MF, Al-Hertani W, Nadeau A, Mathieu J, Maranda B, Désilets V, Waters PJ, Keutzer J, Austin S, Kishnani P1. (2016). Diagnosis of late-onset Pompe disease and other muscle disorders by next-generation sequencing. Orphanet Journal of rare diseases DOI. (Article publié).
  • Waters PJ Thuriot F, Clarke JT, Gravel S, Watkins D, Rosenblatt DS, Lévesque S. (2016). MCEEMethylmalonyl-coA epimerase deficiency: A new case, with an acute metabolic presentation and an intronic splicing mutation in the gene. Molecular genetics and metabolism reports DOI. (Article publié).
  • Thompson Legault J, Strittmatter L, Tardif J, Sharma R, Tremblay-Vaillancourt V, Aubut C, Boucher G, Clish CB, Cyr D, Daneault C, Waters PJ; LSFC Consortium, Vachon L, Morin C, Laprise C, Rioux JD, Mootha VK, Des Rosiers C. (2015). A Metabolic Signature of Mitochondrial Dysfunction Revealed through a Monogenic Form of Leigh Syndrome. Cell reports DOI. (Article publié).
  • Braun RJ, Dumit VI, Monpays C, Roucou X, Serrano D, St-Pierre J, Waters PJ, Bates I, Gris D. (2015). Struggling for breath in Sherbrooke - 1st Symposium on "One mitochondrion, many diseases" in Sherbrooke, Québec, Canada, March 11th, 2015. Microbial cell (Graz Austria) DOI. (Article publié).
  • Hannah-Shmouni F, Sirrs S, Mezei MM, Waters PJ, Mattman A. (2014). Increased Prevalence of Hypertension in Young Adults with High Heteroplasmy Levels of the MELAS m.3243A>G Mutation. JIMD reports DOI. (Article publié).
  • Al-Thihli K, Ebrahim H, Hughes DA, Patel M, Tipple M, Salvarinova R, Gardiner J, Vallance H, Waters PJ. (2012). A variant of unknown significance in the GLA gene causing diagnostic uncertainty in a young female with isolated hypertrophic cardiomyopathy. Gene DOI. (Article publié).
  • Pfeffer G, Waters PJ, Maguire J, Vallance HD, Wong VA, Mezei MM. (2012). Levator palpebrae biopsy and diagnosis of progressive external ophthalmoplegia. The Canadian journal of neurological sciences. DOI. (Article publié).
  • Roefs AM, Waters PJ, Moore GR, Dolman PJ. (2012). Orbicularis oculi muscle biopsies for mitochondrial DNA analysis in suspected mitochondrial myopathy. The British journal of ophthalmology DOI. (Article publié).
  • Coulter-Mackie MB Li A, Lian Q, Struys E, Stockler S, Waters PJ. (2012). Overexpression of human antiquitin in E. coli: enzymatic characterization of twelve ALDH7A1 missense mutations associated with pyridoxine-dependent epilepsy. Molecular genetics and metabolism DOI. (Article publié).
  • Mercimek-Mahmutoglu S, Horvath GA, Coulter-Mackie M, Nelson T, Waters PJ, Sargent M, Struys E, Jakobs C, Stockler-Ipsiroglu S, Connolly MB. (2012). Profound neonatal hypoglycemia and lactic acidosis caused by pyridoxine-dependent epilepsy. Pediatrics DOI. (Article publié).
  • Mills PB, Footitt EJ, Ceyhan S, Waters PJ, Jakobs C, Clayton PT, Struys EA. (2012). Urinary AASA excretion is elevated in patients with molybdenum cofactor deficiency and isolated sulphite oxidase deficiency. Journal of inherited metabolic disease DOI. (Article publié).
  • Alfadhel M, Sirrs S, Waters PJ, Szeitz A, Struys E, Coulter-Mackie M, Stockler-Ipsiroglu S. (2012). Variability of phenotype in two sisters with pyridoxine dependent epilepsy. the Canadian journal of neurological sciences DOI. (Article publié).
  • Van Karnebeek CD, Waters PJ, Sargent MA, Mezei MM, Wong LJ, Wang J, Stöckler-Ipsiroglu S. (2011). Expanding the clinical phenotype of the mitochondrial m.13513G>A mutation with the first report of a fatal neonatal presentation. Developmental medicine and child neurology DOI. (Article publié).
  • Horvath GA, Selby K, Poskitt K, Hyland K, Waters PJ, Coulter-Mackie M, Stockler-Ipsiroglu SG. (2011). Hemiplegic migraine, seizures, progressive spastic paraparesis, mood disorder, and coma in siblings with low systemic serotonin. Cephalalgia: an international journal of headaches DOI. (Article publié).
  • Alfadhel M, Lillquist YP, Waters PJ, Sinclair G, Struys E, McFadden D, Hendson G, Hyams L, Shoffner J, Vallance HD. (2011). Infantile cardioencephalopathy due to a COX15 gene defect: report and review. American journal of medical genetics part A DOI. (Article publié).
  • Schrader KA, Heravi-Moussavi A, Waters PJ, Senz J, Whelan J, Ha G, Eydoux P, Nielsen T, Gallagher B, Oloumi A, Boyd N, Fernandez BA, Young TL, Jones SJ, Hirst M, Shah SP, Marra MA, Green J, Huntsman DG. Author information. (2011). Using next-generation sequencing for the diagnosis of rare disorders: a family with retinitis pigmentosa and skeletal abnormalities. The journal of pathology DOI. (Article publié).
  • McLarren KW1, Severson TM, du Souich C, Stockton DW, Kratz LE, Cunningham D, Hendson G, Morin RD, Wu D, Paul JE, An J, Nelson TN, Chou A, DeBarber AE, Merkens LS, Michaud JL, Waters PJ, Yin J, McGillivray B, Demos M, Rouleau GA, Grzeschik KH, Smith R, Tarpey PS, Shears D, Schwartz CE, Gecz J, Stratton MR, Arbour L, Hurlburt J, Van Allen MI, Herman GE, Zhao Y, Moore R, Kelley RI, Jones SJ, Steiner RD, Raymond FL, Marra MA, Boerkoel CF. (2010). Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome. American Journal of human genetics DOI. (Article publié).
  • Gallagher RC1, Van Hove JL, Scharer G, Hyland K, Plecko B, Waters PJ, Mercimek-Mahmutoglu S, Stockler-Ipsiroglu S, Salomons GS, Rosenberg EH, Struys EA, Jakobs C. (2009). Folinic acid-responsive seizures are identical to pyridoxine-dependent epilepsy. Annals of neurology DOI. (Article publié).
  • Lehman AM, Schultz KR, Poskitt K, Bjornson B, Keyes R, Waters PJ, Clarke LA, Everett R, McConnell D, Stockler S. (2009). Intracranial calcification after cord blood neonatal transplantation for krabbe disease. Neuropediatrics DOI. (Article publié).
  • Rosenberg EH1, Struys EA, Hyland K, Plecko B, Waters PJ, Mercimek-Mahmutoglu S, Stockler-Ipsiroglu S, Gallagher RC, Scharer G, Van Hove JL, Jakobs C, Salomons GS. (2009). Mutation detection in DNA isolated from cerebrospinal fluid and urine: Clinical utility and pitfalls of multiple displacement amplification. Molecular genetics and metabolism DOI. (Article publié).
  • Mercimek-Mahmutoglu S1, Reilly C, Human D, Waters PJ, Stoeckler-Ipsiroglu S. (2009). Progression of organ manifestations upon enzyme replacement therapy in a patient with mucopolysaccharidosis type I/Hurler. World journal of pediatrics: WJP DOI.
  • Greenberg CR1, Dilling LA, Thompson GR, Seargeant LE, Haworth JC, Phillips S, Chan A, Vallance HD, Waters PJ, Sinclair G, Lillquist Y, Wanders RJ, Olpin SE. (2009). The paradox of the carnitine palmitoyltransferase type Ia P479L variant in Canadian Aboriginal populations. Molecular genetics and metabolism DOI. (Article publié).
  • Wang J, Brautbar A, Chan AK, Dzwiniel T, Li FY, Waters PJ, Graham BH, Wong LJ. (2009). Two mtDNA mutations 14487T>C (M63V, ND6) and 12297T>C (tRNA Leu) in a Leigh syndrome family. Molecular genetics and metabolism DOI. (Article publié).
  • Horvath GA, Stockler-Ipsiroglu SG, Salvarinova-Zivkovic R, Lillquist YP, Connolly M, Hyland K, Blau N, Rupar T, Waters PJ. (2008). Autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia: evidence of a phenotypic continuum between dominant and recessive forms. Molecular genetics and metabolism DOI. (Article publié).
  • Wong LJ, Naviaux RK, Brunetti-Pierri N, Zhang Q, Schmitt ES, Truong C, Milone M, Cohen BH, Wical B, Ganesh J, Basinger AA, Burton BK, Swoboda K, Gilbert DL, Vanderver A, Saneto RP, Maranda B, Arnold G, Abdenur JE, Waters PJ, Copeland WC. (2008). Molecular and clinical genetics of mitochondrial diseases due to POLG mutations. Human mutation DOI. (Article publié).
  • Coulter-Mackie MB, Lian Q, Applegarth DA, Toone J, Waters PJ, Vallance H. (2008). Mutation-based diagnostic testing for primary hyperoxaluria type 1: survey of results. Clinical biochemistry DOI. (Article publié).
  • Horvath GA, Davidson AG, Stockler-Ipsiroglu SG, Lillquist YP, Waters PJ, Olpin S, Andresen BS, Palaty J, Nelson J, Vallance H. (2008). Newborn screening for MCAD deficiency: experience of the first three years in British Columbia, Canada. Canadian journal of public health DOI. (Article publié).
  • Brunetti-Pierri N1, Selby K, O'Sullivan M, Hendson G, Truong C, Waters PJ, Wong LJ. (2008). Rapidly progressive neurological deterioration in a child with Alpers syndrome exhibiting a previously unremarkable brain MRI. Neuropediatrics DOI. (Article publié).
  • Andrade J, Waters PJ, Singh RS, Levin A, Toh BC, Vallance HD, Sirrs S. (2008). Screening for Fabry disease in patients with chronic kidney disease: limitations of plasma alpha-galactosidase assay as a screening test. Clinical journal of the American Society of Nephrology; CJASN DOI. (Article publié).
  • Basheer SN, Waters PJ, Lam CW, Acquaviva-Bourdain C, Hendson G, Poskitt K, Hukin J. (2007). Isolated sulfite oxidase deficiency in the newborn: lactic acidaemia and leukoencephalopathy. neuropediatrics DOI. (Article publié).
  • Hueber PA, Waters P, Clark P, Eccles M, Goodyer P. (2006). PAX2 inactivation enhances cisplatin-induced apoptosis in renal carcinoma cells. Kidney international DOI. (Article publié).
  • Demos MK, Waters PJ, Vallance HD, Lillquist Y, Makhseed N, Hyland K, Blau N, Connolly MB. (2005). 6-pyruvoyl-tetrahydropterin synthase deficiency with mild hyperphenylalaninemia. Annals of neurology DOI. (Article publié).
  • Waters PJ, Khashu M, Lillquist Y, Senger C, Mattman A, Demos M, Setchell K, Rupar A, Scott P, Blau N, Vallance HD. (2005). Neonatal hyperphenylalaninemia, perinatal hemochromatosis, and renal tubulopathy: a unique patient or a novel metabolic disorder?. Molecular genetics and metabolism DOI. (Article publié).
  • Makhseed N, Vallance HD, Potter M, Waters PJ, Wong LT, Lillquist Y, Pasquali M, Amat di San Filippo C, Longo N. (2004). Carnitine transporter defect due to a novel mutation in the SLC22A5 gene presenting with peripheral neuropathy. Journal of inherited metabolic disease DOI. (Article publié).
  • Waters PJ1. (2003). How PAH gene mutations cause hyper-phenylalaninemia and why mechanism matters: insights from in vitro expression. Human mutation DOI. (Article publié).
  • Scriver CR, Hurtubise M, Konecki D, Phommarinh M, Prevost L, Erlandsen H, Stevens R, Waters PJ, Ryan S, McDonald D, Sarkissian C. (2003). PAHdb 2003: what a locus-specific knowledgebase can do. Human mutation DOI. (Article publié).
  • Waters PJ1. (2001). Degradation of mutant proteins, underlying "loss of function" phenotypes, plays a major role in genetic disease. Current issues in molecular biology (Article publié).
  • Waters PJ, Scriver CR, Parniak MA. (2001). Homomeric and heteromeric interactions between wild-type and mutant phenylalanine hydroxylase subunits: evaluation of two-hybrid approaches for functional analysis of mutations causing hyperphenylalaninemia. Molecular genetics and metabolism DOI. (Article publié).
  • Waters PJ, Parniak MA, Akerman BR, Scriver CR. (2000). Characterization of phenylketonuria missense substitutions, distant from the phenylalanine hydroxylase active site, illustrates a paradigm for mechanism and potential modulation of phenotype. Molecular genetics and metabolism DOI. (Article publié).
  • Scriver CR, Waters PJ, Sarkissian C, Ryan S, Prevost L, Côté D, Novak J, Teebi S, Nowacki PM. (2000). PAHdb: a locus-specific knowledgebase. Human mutation DOI. (Article publié).
  • Waters PJ1, Parniak MA, Akerman BR, Jones AO, Scriver CR. (1999). Missense mutations in the phenylalanine hydroxylase gene (PAH) can cause accelerated proteolytic turnover of PAH enzyme: a mechanism underlying phenylketonuria. Journal of inherited metabolic disease DOI. (Article publié).
  • Scriver CR, Waters PJ. (1999). Monogenic traits are not simple: lessons from phenylketonuria. Trends in genetics: TIG DOI. (Article publié).
  • Waters PJ1, Parniak MA, Hewson AS, Scriver CR. (1998). Alterations in protein aggregation and degradation due to mild and severe missense mutations (A104D, R157N) in the human phenylalanine hydroxylase gene (PAH). Human Mutation (Article publié).
  • Waters PJ1, Scriver CR, Parniak MA. (1998). Degradation rates differ between mutant and wild-type forms of phenylalanine hydroxylase expressed in vitro. Biochemical Society transactions DOI. (Article publié).
  • Waters PJ, Parniak MA, Nowacki P, Scriver CR. (1998). In vitro expression analysis of mutations in phenylalanine hydroxylase: linking genotype to phenotype and structure to function. Human mutation (Article publié).
  • Carter KC, Byck S, Waters PJ, Richards B, Nowacki PM, Laframboise R, Lambert M, Treacy E, Scriver CR. (1998). Mutation at the phenylalanine hydroxylase gene (PAH) and its use to document population genetic variation: the Quebec experience. European journal of human genetics: EJHG DOI. (Article publié).
  • Treacy EP1, Delente JJ, Elkas G, Carter K, Lambert M, Waters PJ, Scriver CR. (1997). Analysis of phenylalanine hydroxylase genotypes and hyperphenylalaninemia phenotypes using L-[1-13C]phenylalanine oxidation rates in vivo: a pilot study. Pediatric research DOI. (Article publié).
  • Kayaalp E1, Treacy E, Waters PJ, Byck S, Nowacki P, Scriver CR. (1997). Human phenylalanine hydroxylase mutations and hyperphenylalaninemia phenotypes: a metanalysis of genotype-phenotype correlations. American journal of human genetics DOI. (Article publié).
  • Waters PJ1, Flynn MD, Pennock CA, Corrall RJ, Greenwood RJ, Eisenthal R. (1995). Decreased sialidase activity in mononuclear leucocytes of type 1 diabetic subjects: relationship to diabetic complications and glycaemic control. Diabetic medicine: a journal of the British Diabetic Association DOI. (Article publié).
  • Waters PJ1, Flynn MD, Pennock CA. (1994). Association between serum cholesterol and leucocyte lysosomal function. Annals of clinical biochemistry DOI. (Article publié).
  • Waters PJ1, Corfield AP, Eisenthal R, Pennock CA. (1994). Freeze-stable sialidase activity in human leucocytes: substrate specificity, inhibitor susceptibility, detergent requirements and subcellular localization. The biochemical journal DOI. (Article soumis).
  • Waters PJ1, Flynn MD, Pennock CA, Corrall RJ, Eisenthal R. (1993). Diabetes-related changes in sialic acid content of leucocytes: an assay-dependent artefact?. Biochemical Society transactions DOI. (Article publié).
  • Waters PJ1, Lewry EM, Brimble AP, Pennock CA. (1992). Factors affecting the assay of urinary free and bound sialic acid. Biochemical Society transactions DOI. (Article publié).
  • Waters PJ1, Flynn MD, Corrall RJ, Pennock CA. (1992). Increases in plasma lysosomal enzymes in type 1 (insulin-dependent) diabetes mellitus: relationship to diabetic complications and glycaemic control. Diabetologia DOI. (Article publié).
  • Waters PJ1, Lewry E, Pennock CA. (1992). Measurement of sialic acid in serum and urine: clinical applications and limitations. Annals of clinical biochemistry DOI. (Article publié).
  • Flynn MD, Corrall RJ, Waters PJ, Pennock CA. (1991). Sialic acid and cardiovascular mortality. BMJ (Clinical research ed.) DOI. (Article publié).

Chapitres de livre

  • (2006). Advances in Phenylketonuria and Tetrahydrobiopterin Research. A PAH gene knowledgebase: content , informatics, utilization. (N.Blau Pub SPS Publishing, 434-449). Allemagne :
  • (2006). Advances in Phenylketonurial and Tetrahydrobiopterin research. Molecular bases of phenylketonuria: insights from functional studies in vitro (N.Blau Pub SPS Publishing, 277-310). Allemagne :

Autres contributions


  • (2022). Newborn screening - introduction and overview. McGill University Medical Genetics, Academic half-day. Montréal, Canada
  • (2021). Organic acidurias revealing altered mitochondrial metabolism - with or without clinical consequences. Baltic Metabolic Group (Latvia / Lithuania / Estonia) Meeting, Vilnius. Lettonie
  • (2021). Organic acidurias revealing altered mitochondrial metabolism - with or without clinical consequences. University of Toronto, Sick Kids Hospital Metabolic Rounds. Toronto, Canada
  • (2021). Organic acidurias revealing altered mitochondrial metabolism - with or without clinical consequences. University of Manitoba, Genetic Academic Session. Winnipeg, Canada
  • (2016). New twists on old biomarkers. Symposium Garrod Halifax. Halifax, Canada
  • (2012). L'épilepsie pyridoxine-dépendante: des surpris dans le labo et en clinique. Association des médecins généticiens du Québec. Montréal, Canada
  • (2002). How PAH gene mutation cause hyperphenylalaninemia.. and why mechanism matters. Elsinore II international Meeting on Phenylketonuria: Present Knowledge and Future Challenges. Elsinore, Danemark
  • (1998). Can phenotypes be predicted from genotypes. European scinece foundation ( mini symposium onDefective Protein folding and degradation as disease mechanism. aarhus, Danemark
  • (1998). PAH genotypes... PAH function...hyperphenilalanimemia phenotypes. Using in vitro expression to join up the dots. Ramon Araces Foundation International Symposium on Inborn Errors on Phenylalanime and Tyrosine Metabolism. Madrid, Espagne