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Browsing publications by Professor John Sayer

Newcastle AuthorsTitleYearFull text
Professor John Sayer
CYP2AA1 mutations and hypervitaminosis D2019
Professor John Sayer
Dr Andreas Werner
Evaluating pathogenicity of SLC34A3-Ser192Leu, a frequent European missense variant in disorders of renal phosphate wasting2019
Professor John Sayer
Dr Andreas Werner
Gene panel sequencing identifies a likely monogenic cause in 7% of 235 Pakistani families with nephrolithiasis2019
Sumaya Alkanderi
Dr Elisa Molinari
Veronica Sammut
Dr Simon Ramsbottom
Dr Shalabh Srivastava
et al.		ARL3 Mutations Cause Joubert Syndrome by Disrupting Ciliary Protein Composition2018
Dr Noel Edwards
Sumaya Alkanderi
Professor John Sayer
Acidosis and Deafness in Patients with Recessive Mutations in FOXI12018
Dr Amy Fearn
Ben Allison
Dr Sarah Rice
Dr Noel Edwards
Professor John Sayer
et al.		Clinical, biochemical, and pathophysiological analysis of SLC34A1 mutations2018
Professor John Sayer
Editorial Comment2018
Dr Rebecca Darlay
Aisling Stewart
Dr Yaobo Xu
Dr Heather Lambert
Dr Mauro Santibanez Koref
et al.		Erratum: Publisher Correction: Genome-wide linkage and association study implicates the 10q26 region as a major genetic contributor to primary nonsyndromic vesicoureteric reflux (Scientific reports (2017) 7 1 (14595))2018
Dr Elisa Molinari
Holly Mabillard
Dr Shalabh Srivastava
Dr Katrina Wood
Sumaya Alkanderi
et al.		Human urine-derived renal epithelial cells provide insights into kidney-specific alternate splicing variants2018
Dr Shalabh Srivastava
Dr Elisa Molinari
Professor John Sayer
Many genes-one disease? Genetics of nephronophthisis (NPHP) and NPHP-associated disorders2018
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