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Browsing publications by Dr Holly Mabillard

Newcastle AuthorsTitleYearFull text
Laura Bailey
Vikki Bridgett
Dr Vicky Brocklebank
Dr Sally Johnson
Professor David Kavanagh
et al.		Quantifying association of early proteinuria and estimated glomerular filtration rate changes with long-term kidney failure in C3 glomerulopathy and immune-complex membranoproliferative glomerulonephritis using the United Kingdom RaDaR Registry2025
Dr Eric Olinger
Zac Sentell
Dr Holly Mabillard
Dr Katrina Wood
Dr Dom Rutland
et al.		Urinary renal epithelial cells can be used for NPHP1 phenotyping and a personalized therapeutic strategy2025
Sarah Orr
Dr Elisa Molinari
Dr Katrina Wood
Dr Shalabh Srivastava
Dr Colin Miles
et al.		Urine-derived renal epithelial cells for deep phenotyping and transcriptomic response to therapy in Fabry disease2025
Dr Holly Mabillard
Professor John Sayer
ANKS6 Variants Underlie Polycystic Kidneys in Prenatal and Neonatal Cases2024
Dr Sally Johnson
Professor David Kavanagh
Professor John Sayer
Dr Edwin Wong
Megan Bates
et al.		Description and Cross-Sectional Analyses of 25,880 Adults and Children in the UK National Registry of Rare Kidney Diseases Cohort2024
Professor John Sayer
Dr Holly Mabillard
Eight-fold increased COVID-19 mortality in autosomal dominant tubulointerstitial kidney disease due to MUC1 mutations: an observational study2024
Dr Holly Mabillard
Dr Eric Olinger
Professor John Sayer
Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease2023
Dr Holly Mabillard
Professor John Sayer
Dr Eric Olinger
Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease2023
Dr Eric Olinger
Sarah Orr
Dr Holly Mabillard
Dr Yincent Tse
Dr Katrina Wood
et al.		Biallelic variants in TTC21B as a rare cause of early-onset arterial hypertension and tubuloglomerular kidney disease2022
Professor John Sayer
Dr Holly Mabillard
Dr Hilary Tedd
Dr Nigel Speight
Dr Christopher Duncan
et al.		Case Report: Renal potassium wasting in SARS-CoV-2 infection2020
Dr Holly Mabillard
Professor John Sayer
Electrolyte Disturbances in SARS-CoV-2 Infection2020
Dr Holly Mabillard
Professor John Sayer
SGLT2 inhibitors - a potential treatment for Alport syndrome2020
Dr Holly Mabillard
Professor John Sayer
The Molecular Genetics of Gordon Syndrome2019
Dr Elisa Molinari
Dr 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 Holly Mabillard
Dr Charlie Tomson
Investigation and management of renal stone disease2017
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