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Browsing publications by Professor John Sayer

Newcastle AuthorsTitleYearFull text
Professor John Sayer
PKD1 5’UTR variants are a rare cause of disease in ADPKD and suggest a new focus for therapeutic development2026
Professor John Sayer
A Whole Exome Sequencing and Targeted Gene Panel Approach to Identify Rare Etiologies of Pediatric Nephrotic Syndrome in Oman2026
Professor John Sayer
Dr Eric Olinger
Ruxandra Neatu
Biallelic TMEM72 Variants in Patients with a Nephronophthisis-Like Phenotype2026
Professor John Sayer
Genotype-phenotype characteristics and disease progression of FAN1-related karyomegalic tubulointerstitial nephropathy2026
Professor John Sayer
Genotype-phenotype correlations and clinical outcomes of genetic TRPC6 podocytopathies2026
Professor John Sayer
Landscape of parental postzygotic mutations across >11,000 rare disease trios2026
Dr Holly Mabillard
Professor John Sayer
Lipocalin-2 Is Induced by Uromodulin Aggregates without Impacting Kidney Disease Progression in Autosomal Dominant Tubulointerstitial Kidney Disease–UMOD2026
Professor John Sayer
Dr Juliana Arcila Galvis
Mono-allelic pathogenic variants in JAG1 cause autosomal dominant tubulo-interstitial kidney disease (ADTKD-JAG1)2026
Dr Janewit Wongboonsin
Zac Sentell
Dr Juliana Arcila Galvis
Professor John Sayer
Nephrotic syndrome genomic discovery in the Mass General Brigham Biobank identifies monoallelic MEFV variants as a risk factor for focal segmental glomerulosclerosis2026
Ruxandra Neatu
Mohamed Al-Hamed
Professor John Sayer
Network-based framework for studying etiology and phenotypic diversity in primary ciliopathies2026
Professor John Sayer
Primary hyperoxaluria type 1—current practice in the siRNA era: an ERA Genes & Kidney Working Group survey2026
Professor John Sayer
Rare diseases: a pivotal moment towards equity, inclusion, discovery and sustainable solutions2026
Professor John Sayer
Role and relevance of genetic testing in patients with kidney stones: a review from EAU Section of Endourology2026
Professor John Sayer
The UK kidney association 2025 academic census: a national survey to identify workforce improvements2026
Professor John Sayer
Dr Nikola Zagorec
10 tips on how to take a proper family history in CKD patient care2025
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