Electrolyte Disturbances in SARS-CoV-2 Infection [version 2; peer review: 2 approved]

by Holly Mabillard, John A. Sayer
Published 2020-07-01

Case Report: Making a diagnosis of familial renal disease – clinical and patient perspectives [version 1; referees: 2 approved]

by Zahra Iqbal, John A. Sayer
Published 2017-04-01

Many Genes—One Disease? Genetics of Nephronophthisis (NPHP) and NPHP-Associated Disorders

by Shalabh Srivastava, Shalabh Srivastava, Elisa Molinari, Shreya Raman, John A. Sayer, John A. Sayer
Published 2018-01-01

Nephrocalcinosis: A Review of Monogenic Causes and Insights They Provide into This Heterogeneous Condition

by Fay J. Dickson, John A. Sayer
Published 2020-01-01

Case Report: Cervical chondrocalcinosis as a complication of Gitelman syndrome [version 1; referees: 2 approved]

by Zahra Iqbal, Paul Mead, John A. Sayer
Published 2016-05-01

Variable phenotypic presentations of renal involvement in Fabry disease: a case series [version 1; referees: 2 approved]

by Sarah McCloskey, Paul Brennan, John A Sayer
Published 2018-03-01

Case Report: A Novel In-Frame Deletion of GLIS2 Leading to Nephronophthisis and Early Onset Kidney Failure

by Intisar Al Alawi, Intisar Al Alawi, Laura Powell, Sarah J. Rice, Mohammed S. Al Riyami, Marwa Al-Riyami, Issa Al Salmi, Issa Al Salmi, John A. Sayer, John A. Sayer, John A. Sayer
Published 2021-11-01

From disease modelling to personalised therapy in patients with CEP290 mutations [version 1; referees: 2 approved]

by Elisa Molinari, Shalabh Srivastava, John A. Sayer, Simon A. Ramsbottom
Published 2017-05-01

Use of patient derived urine renal epithelial cells to confirm pathogenicity of PKHD1 alleles

by Elisa Molinari, Shalabh Srivastava, Rebecca M. Dewhurst, John A. Sayer
Published 2020-10-01

Case Report: Identification of likely recurrent CEP290 mutation in a child with Joubert syndrome and cerebello-retinal-renal features. [version 2; peer review: 2 approved]

by Gazmend Temaj, John A Sayer, Lidvana Spahiu, Thomas Liehr, Emir Behluli
Published 2023-03-01

Nephronophthisis: A Genetically Diverse Ciliopathy

by Roslyn J. Simms, Ann Marie Hynes, Lorraine Eley, John A. Sayer
Published 2011-01-01

Large Retroperitoneal Haemorrhage Following Cyst Rupture in a Patient with Autosomal Dominant Polycystic Kidney Disease

by Holly Mabillard, Shalabh Srivastava, Philip Haslam, Maciej Karasek, John A. Sayer
Published 2017-01-01

Novel CYP24A1 Mutation in a Young Male Patient with Nephrolithiasis: Case Report

by Jana Jiráčková, Radomir Hyšpler, Sumaya Alkanderi, Ladislava Pavlíková, Vladimir Palicka, John A. Sayer
Published 2019-07-01

Case Report: Renal potassium wasting in SARS-CoV-2 infection [version 2; peer review: 2 approved]

by Holly Mabillard, Hilary Tedd, Ally Speight, Christopher Duncan, David A. Price, John A. Sayer
Published 2020-11-01

Using zebrafish to study the function of nephronophthisis and related ciliopathy genes [version 1; referees: 1 approved, 2 approved with reservations]

by Elisa Molinari, Simon A. Ramsbottom, Veronica Sammut, Frances E. P. Hughes, John A. Sayer
Published 2018-07-01

Case Report: Investigation and molecular genetic diagnosis of familial hypomagnesaemia: a case report [version 1; peer review: 1 approved, 3 approved with reservations]

by Jamie Willows, Maryam Al Badi, Chloe Richardson, Noel Edwards, Sarah Rice, John A. Sayer
Published 2019-05-01

Using zebrafish to study the function of nephronophthisis and related ciliopathy genes [version 2; referees: 1 approved, 2 approved with reservations]

by Elisa Molinari, Simon A. Ramsbottom, Veronica Sammut, Frances E. P. Hughes, John A. Sayer
Published 2018-12-01

End-Stage Kidney Failure in Oman: An Analysis of Registry Data with an Emphasis on Congenital and Inherited Renal Diseases

by Intisar Al Alawi, Issa Al Salmi, Adhra Al Mawali, Yacoub Al Maimani, John A. Sayer
Published 2017-01-01

Update of genetic variants in CEP120 and CC2D2A—With an emphasis on genotype‐phenotype correlations, tissue specific transcripts and exploring mutation specific exon skipping thera...

by Miguel Barroso‐Gil, Eric Olinger, Simon A. Ramsbottom, Elisa Molinari, Colin G. Miles, John A. Sayer
Published 2021-12-01

Case Report: Investigation and molecular genetic diagnosis of familial hypomagnesaemia [version 2; peer review: 1 approved, 3 approved with reservations]

by Jamie Willows, Maryam Al Badi, Chloe Richardson, Aisha Al Sinani, Noel Edwards, Sarah Rice, John A. Sayer
Published 2019-12-01