Dr Holly Mabillard
Professor John Sayer
| ANKS6 Variants Underlie Polycystic Kidneys in Prenatal and Neonatal Cases | 2024 |
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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 Cohort | 2024 |
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Professor John Sayer
Dr Holly Mabillard
| Eight-fold increased COVID-19 mortality in autosomal dominant tubulointerstitial kidney disease due to MUC1 mutations: an observational study | 2024 |
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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 disease | 2023 |
|
Dr Holly Mabillard
Professor John Sayer
Dr Eric Olinger
| Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease | 2023 |
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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 disease | 2022 |
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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 infection | 2020 |
|
Dr Holly Mabillard
Professor John Sayer
| Electrolyte Disturbances in SARS-CoV-2 Infection | 2020 |
|
Dr Holly Mabillard
Professor John Sayer
| SGLT2 inhibitors - a potential treatment for Alport syndrome | 2020 |
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Dr Holly Mabillard
Professor John Sayer
| The Molecular Genetics of Gordon Syndrome | 2019 |
|
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 variants | 2018 |
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Dr Holly Mabillard
Dr Charlie Tomson
| Investigation and management of renal stone disease | 2017 |
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Dr Holly Mabillard
Dr Shalabh Srivastava
Professor John Sayer
| Large Retroperitoneal Haemorrhage Following Cyst Rupture in a Patient with Autosomal Dominant Polycystic Kidney Disease | 2017 |
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