Publications by authors named "John Sayer"

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Genotype-phenotype correlations and clinical outcomes of genetic TRPC6 podocytopathies.
Susan M McAnallen, Elhussein A E Elhassan, Sinead Stoneman, Filippo Pinto E Vairo, Marie C Hogan, John A Sayer

Nephrol Dial Transplant· December 2025

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A Novel Founder PKHD1 Disease Causing Variant in Israeli Bedouins With Autosomal Recessive Polycystic Kidney Disease.
John A Sayer, Joshua Pillai

Am J Kidney Dis· December 2025

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Nephrotic syndrome genomic discovery in the Mass General Brigham Biobank identifies monoallelic MEFV variants as a risk factor for focal segmental glomerulosclerosis.
Janewit Wongboonsin, Kristen M Gibson, Juntao Ke, Zachary Sentell, Juliana E Arcila Galvis, John A Sayer

Kidney Int· December 2025

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Editorial: Distinct phenotype but same genotype: hints for the diversity of phenotypes in ciliopathies.
John A Sayer, Heymut Omran, Ewa Zietkiewicz

Front Mol Biosci· December 2025

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Chronic Kidney Disease of unexplained cause (CKDx): a consensus statement by the Genes & Kidney Working Group of the ERA.
Jan Halbritter, Lucile Figueres, Albertien M Van Eerde, Giovambattista Capasso, Ewout J Hoorn, John A Sayer

Nephrol Dial Transplant· November 2025

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Clinical Characteristics, Symptoms, and Long-Term Outcomes in Gitelman Syndrome.
Michiel L A J Wieërs, Lise Allard, Viola D'Ambrosio, Pedro Arango-Sancho, Jeroen H F de Baaij, John A Sayer

Kidney Int Rep· November 2025

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Biallelic TMEM72 Variants in Patients with a Nephronophthisis-Like Phenotype.
Laura R Claus, Rozemarijn Snoek, Siebren Faber, Aurelius J C Roskothen-Shevchuk, Elena Sendino Garví, John A Sayer

Nephron· November 2025

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Urinary renal epithelial cells can be used for NPHP1 phenotyping and a personalized therapeutic strategy.
Praveen Dhondurao Sudhindar, Eric Olinger, Zachary T Sentell, Holly Mabillard, Barbora Dicka, John A Sayer

J Cell Sci· October 2025

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Mono-allelic pathogenic variants in JAG1 cause autosomal dominant tubulo-interstitial kidney disease (ADTKD-JAG1).
Lucie Menguy, Laurent Hudier, Mohamad Zaidan, Bertrand Knebelmann, John A Sayer

Kidney Int· October 2025

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Tackling ciliary specialization to understand phenotypic variability in human primary ciliopathies.
Ruxandra Bachmann-Gagescu, John A Sayer

J Cell Sci· October 2025

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How to use mTOR inhibitors in children.
Yincent Tse, Nicola Vasey, Rhys Thomas, Suzy Leech, Stephen Owens, John Sayer

Arch Dis Child Educ Pract Ed· September 2025

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Using Large Genomic Biobanks to Generate Insights into Genetic Kidney Disease.
Alexander R Chang, Janewit Wongboonsin, Andrew J Mallett, Ana Morales, Kyle Retterer, John A Sayer

Semin Nephrol· September 2025

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Late onset presentation of nephrocalcinosis and nephrolithiasis in association with a heterozygous pathogenic variant.
Marwa Abouzeina, Paul Mead, Rhema Okpongete, Holly Mabillard, Robert Geraghty, John A Sayer

J Rare Dis (Berlin)· September 2025

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PKD1 5'UTR variants are a rare cause of disease in ADPKD and suggest a new focus for therapeutic development.
Laura Wedd, Yvonne Hort, Chirag Patel, John A Sayer, Rocio Rius

Eur J Hum Genet· September 2025

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10 tips on how to take a proper family history in CKD patient care.
Emilie Cornec-Le Gall, Albertien M van Eerde, Lucile Figueres, Matias Simons, Giovambattista Capasso, John A Sayer

Clin Kidney J· September 2025

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Global access to management of primary hyperoxaluria: a survey on behalf of OxalEurope, G&K Working Group of the ERA and ESPN.
Lisa J Deesker, Laila Oubram, Reham Almardini, Michelle A Baum, M Bonilla-Felix, John A Sayer

Nephrol Dial Transplant· August 2025

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Severe clinical manifestation of mitochondrial disease due to the m.3243A>T variant: a case report of early-onset, multi-organ involvement and premature death.
Hannah Gillespie, Yi Shiau Ng, Katrina M Wood, Sila Hopton, Charlotte L Alston, John A Sayer

J Rare Dis (Berlin)· August 2025

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European Association of Urology Guidelines on the Diagnosis and Treatment of Urolithiasis.
Andreas Skolarikos, Robert Geraghty, Bhaskar Somani, Thomas Tailly, Helene Jung, John A Sayer

Eur Urol· July 2025

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Urine-derived renal epithelial cells for deep phenotyping and transcriptomic response to therapy in Fabry disease.
Praveen Dhondurao Sudhindar, Sarah E Orr, Eve Miller-Hodges, Elisa Molinari, Katrina Wood, John A Sayer

Clin Sci (Lond)· July 2025

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Characterization of the Cystic Phenotype Associated with Monoallelic ALG8 and ALG9 Pathogenic Variants.
Tabinda Jawaid, Doaa E Elbarougy, Sravanthi Lavu, Guillaume Buia, Sarah R Senum, John A Sayer

J Am Soc Nephrol· June 2025

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SOX9-dependent fibrosis drives renal function in nephronophthisis.
Maulin Mukeshchandra Patel, Vasileios Gerakopoulos, Bryan Lettenmaier, Eleni Petsouki, Kurt A Zimmerman, John A Sayer

EMBO Mol Med· June 2025

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Renal ciliopathies.
Laura A Devlin, Rebecca M Dewhurst, Praveen D Sudhindar, John A Sayer

Curr Top Dev Biol· April 2025

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GLP-1 receptor agonists-another promising therapy for Alport syndrome?
Jan Boeckhaus, Holly Mabillard, John A Sayer

J Rare Dis (Berlin)· March 2025

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Rare disease gene association discovery in the 100,000 Genomes Project.
Valentina Cipriani, Letizia Vestito, Emma F Magavern, Julius O B Jacobsen, Gavin Arno, John A Sayer

Nature· February 2025

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Rare Combination of Phenotypes of Karyomegalic Interstitial Nephritis and Autosomal Recessive Polycystic Kidney Disease in an Omani Child.
Intisar Al Alawi, Maryam Al Shehhi, Mohammed S Al Riyami, Naifain Al Kalbani, Aliya Al Hosni, John A Sayer

Oman Med J· November 2024

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