Paul Goodyer

Montreal Children's Hospital — Canada

Biochemistry, Genetics and Molecular Biology · Life Sciences

45h-index7.3kcitations201works3.22yr avg
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Research Topics

Renal and related cancers(64), Biomedical Research and Pathophysiology(29), Amino Acid Enzymes and Metabolism(25), Pediatric Urology and Nephrology Studies(24), Renal Diseases and Glomerulopathies(23)

Publications201 total

Translational readthrough therapy for ADPKD induces polycystin1 expression and partially rescues functional deficits in PKD1 mutant cells
Scientific Reports·2025Open Access
Genetic Evaluation in Chronic Kidney Disease: A Canadian Single-Centre Experience from a Multicultural Urban Population
2025Open Access
Emerging therapeutic strategies for cystinosis
Frontiers in Pediatrics·2025· 2 citedOpen Access
X-Linked Hypophosphatemia Management in Adults: An International Working Group Clinical Practice Guideline
The Journal of Clinical Endocrinology & Metabolism·2025· 7 citedOpen Access
Methodology for the international working group clinical practice guidelines on X-linked hypophosphatemia in children and adults
Journal of Bone and Mineral Metabolism·2025· 2 citedOpen Access
Current Practices in Monitoring Children and Adults With X-linked Hypophosphatemia: A Global Survey of Expert Experience
The Journal of Clinical Endocrinology & Metabolism·2025· 2 citedOpen Access
X-Linked Hypophosphatemia Management in Children: An International Working Group Clinical Practice Guideline
The Journal of Clinical Endocrinology & Metabolism·2025· 13 citedOpen Access
Systematic Review: Efficacy of Medical Therapy on Outcomes Important to Adult Patients With X-Linked Hypophosphatemia
The Journal of Clinical Endocrinology & Metabolism·2024· 7 citedOpen Access
Use of patient-derived cell models for characterization of compound heterozygous hypomorphic <i>C2CD3</i> variants in a patient with isolated nephronophthisis
Human Molecular Genetics·2024Open Access
12589 Two Systematic Reviews Of Treatment Efficacy On Patient Important Outcomes In Adult X-linked Hypophosphatemia
Journal of the Endocrine Society·2024Open Access
Expanding the phenotypic spectrum of CC2D2A-related ciliopathies: a rare homozygous nonsense variant in a patient with suspected nephronophthisis
European Journal of Human Genetics·2024· 2 cited
Wilms’ tumor gene 1: lessons from the interface between kidney development and cancer
American Journal of Physiology-Renal Physiology·2023· 16 cited
Tubular Diseases and Stones Seen From Pediatric and Adult Nephrology Perspectives
Seminars in Nephrology·2023· 2 citedOpen Access
Unraveling the natural history of presymptomatic cystinuria
Current Opinion in Nephrology & Hypertension·2023· 1 cited
Transition From Pediatric to Adult Nephrology Care: Program Report of a Single-Center Experience
Canadian Journal of Kidney Health and Disease·2023· 9 citedOpen Access
Renal Calculi
2023· 1 cited
WT1 regulates expression of DNA repair gene <i>Neil3</i> during nephrogenesis
American Journal of Physiology-Renal Physiology·2022· 4 cited
Clinical Use of Diuretics
Pediatric Nephrology·2022· 2 cited
Nephron progenitor cells in development and disease
Medical Research Archives·2022· 3 citedOpen Access
Congenital Anomalies of the Kidneys
Pediatric Nephrology·2022· 4 cited
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Frequent Co-authors

Michael R. Eccles(7), Elena Torban(7), Alison Dziarmaga(6), Diana M. Iglesias(5), Ronald Klein(4), Michael Mauer(3), Bernard Zinman(3), Robert Gardiner(3), Samy Suissa(3), Alan R. Sinaiko(3), T. Strand(3), Sandra Donnelly(3), Steven J. Scheinman(3), Pierre‐Alain Hueber(3), LeeLee Chu(3), Jacklyn Quinlan(3), Jerry Pelletier(3), Charles R. Scriver(3), Zhao Zhang(3), Alice Benjamin(3)