Publications by authors named "Paul Goodyer"

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Translational readthrough therapy for ADPKD induces polycystin1 expression and partially rescues functional deficits in PKD1 mutant cells.
Elena Torban, Lucie Canaff, Sima Babayeva, Nadezda Kachurina, Chen-Fang Chung, Paul R Goodyer

Sci Rep· November 2025

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Bridging pediatric and adult IgAN: challenges in applying proteinuria-driven recommendations in the new IPNA guidelines.
Alexandra Cambier, Claire Dossier, Anne-Laure Lapeyraque, Véronique Phan, Camille Laroche, Paul Goodyer

Pediatr Nephrol· July 2025

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X-Linked Hypophosphatemia Management in Adults: An International Working Group Clinical Practice Guideline.
Aliya A Khan, Dalal S Ali, Natasha M Appelman-Dijkstra, Thomas O Carpenter, Catherine Chaussain, Paul Goodyer

J Clin Endocrinol Metab· July 2025

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X-Linked Hypophosphatemia Management in Children: An International Working Group Clinical Practice Guideline.
Dalal S Ali, Thomas O Carpenter, Erik A Imel, Leanne M Ward, Natasha M Appelman-Dijkstra, Paul Goodyer

J Clin Endocrinol Metab· June 2025

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Current Practices in Monitoring Children and Adults With X-linked Hypophosphatemia: A Global Survey of Expert Experience.
Dalal S Ali, Farah Alsarraf, Hajar Abu Alrob, R Todd Alexander, Abdulrahman Almoulia, Paul Goodyer

J Clin Endocrinol Metab· June 2025

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Systematic Review: Efficacy of Medical Therapy on Outcomes Important to Adult Patients With X-Linked Hypophosphatemia.
Dalal S Ali, Reza D Mirza, Farah Alsarraf, Salma Hussein, Hajar Abu Alrob, Paul Goodyer

J Clin Endocrinol Metab· May 2025

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Methodology for the international working group clinical practice guidelines on X-linked hypophosphatemia in children and adults.
Dalal S Ali, Aliya A Khan, Reza D Mirza, Natasha M Appelman-Dijkstra, Maria Luisa Brandi, Paul Goodyer

J Bone Miner Metab· May 2025

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Emerging therapeutic strategies for cystinosis.
Paul Goodyer, Elena Torban

Front Pediatr· May 2025

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Use of patient-derived cell models for characterization of compound heterozygous hypomorphic C2CD3 variants in a patient with isolated nephronophthisis.
Zachary T Sentell, Lina Mougharbel, Zachary W Nurcombe, Sima Babayeva, Marc Henein, Paul R Goodyer

Hum Mol Genet· February 2025

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Expanding the phenotypic spectrum of CC2D2A-related ciliopathies: a rare homozygous nonsense variant in a patient with suspected nephronophthisis.
Zachary T Sentell, Zachary W Nurcombe, Lina Mougharbel, Natascia Anastasio, Jean-Baptiste Rivière, Paul R Goodyer

Eur J Hum Genet· September 2024

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Wilms' tumor gene 1: lessons from the interface between kidney development and cancer.
Elena Torban, Paul Goodyer

Am J Physiol Renal Physiol· January 2024

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Transition From Pediatric to Adult Nephrology Care: Program Report of a Single-Center Experience.
Andrey V Cybulsky, Leonor Cercena, Paul R Goodyer, Rita S Suri

Can J Kidney Health Dis· August 2023

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Tubular Diseases and Stones Seen From Pediatric and Adult Nephrology Perspectives.
Johannes Münch, Paul R Goodyer, Carsten A Wagner

Semin Nephrol· July 2023

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Unraveling the natural history of presymptomatic cystinuria.
Fatima Tokhmafshan, Paul R Goodyer

Curr Opin Nephrol Hypertens· May 2023

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WT1 regulates expression of DNA repair gene during nephrogenesis.
Kyle Dickinson, Leah Hammond, Murielle Akpa, Lee Lee Chu, Caleb Tse Lalonde, Paul Goodyer

Am J Physiol Renal Physiol· March 2023

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Phase 1 Renal Impairment Trial Results Supports Targeted Individualized Dosing of ELX-02 in Patients With Nephropathic Cystinosis.
Thomas Haverty, David J Wyatt, Kaela M Porter, Andi Leubitz, Kate Banks, Paul Goodyer

J Clin Pharmacol· July 2021

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A no-nonsense approach to hereditary kidney disease.
Fatima Tokhmafshan, Kyle Dickinson, Murielle M Akpa, Emma Brasell, Pedro Huertas, Paul R Goodyer

Pediatr Nephrol· November 2020

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The novel aminoglycoside, ELX-02, permits CTNSW138X translational read-through and restores lysosomal cystine efflux in cystinosis.
Emma J Brasell, Lee Lee Chu, Murielle M Akpa, Idit Eshkar-Oren, Iris Alroy, Paul Goodyer

PLoS One· March 2020

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Intrinsic tumor necrosis factor-α pathway is activated in a subset of patients with focal segmental glomerulosclerosis.
Chen-Fang Chung, Thomas Kitzler, Nadezda Kachurina, Katarina Pessina, Sima Babayeva, Paul Goodyer

PLoS One· January 2020

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Molecular determinants of WNT9b responsiveness in nephron progenitor cells.
Kyle K Dickinson, Leah C Hammond, Courtney M Karner, Nicholas D Hastie, Thomas J Carroll, Paul Goodyer

PLoS One· December 2019

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From podocyte biology to novel cures for glomerular disease.
Elena Torban, Fabian Braun, Nicola Wanner, Tomoko Takano, Paul R Goodyer

Kidney Int· October 2019

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The aminoglycoside geneticin permits translational readthrough of the CTNS W138X nonsense mutation in fibroblasts from patients with nephropathic cystinosis.
Emma J Brasell, LeeLee Chu, Reyhan El Kares, Jung Hwa Seo, Robin Loesch, Paul Goodyer

Pediatr Nephrol· May 2019

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Hypophosphatemic Rickets.
Martin Bitzan, Paul R Goodyer

Pediatr Clin North Am· February 2019

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Use of genomic and functional analysis to characterize patients with steroid-resistant nephrotic syndrome.
Thomas M Kitzler, Nadezda Kachurina, Martin M Bitzan, Elena Torban, Paul R Goodyer

Pediatr Nephrol· October 2018

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The Québec NTBC Study.

Adv Exp Med Biol· December 2017

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