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Browsing publications by Dr Shalabh Srivastava.

Newcastle AuthorsTitleYearFull text
Dr Elisa Molinari
Dr Shalabh Srivastava
Becky Dewhurst
Professor John Sayer
Use of patient derived urine renal epithelial cells to confirm pathogenicity of PKHD1 alleles2020
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 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 Shalabh Srivastava
Dr Elisa Molinari
Professor John Sayer
Many genes-one disease? Genetics of nephronophthisis (NPHP) and NPHP-associated disorders2018
Dr Simon Ramsbottom
Dr Elisa Molinari
Dr Shalabh Srivastava
Sumaya Alkanderi
Laura Devlin
et al.
Targeted exon skipping of a CEP290 mutation rescues Joubert syndrome phenotypes in vitro and in a murine model2018
Dr Simon Ramsbottom
Dr Elisa Molinari
Dr Shalabh Srivastava
Sumaya Alkanderi
Laura Devlin
et al.
Targeted exon skipping of a CEP290 mutation rescues Joubert syndrome phenotypes in vitro and in a murine model2018
Dr Shalabh Srivastava
Dr Simon Ramsbottom
Dr Elisa Molinari
Sumaya Alkanderi
Dr Andrew Filby
et al.
A human patient-derived cellular model of Joubert syndrome reveals ciliary defects which can be rescued with targeted therapies2017
Dr Elisa Molinari
Dr Shalabh Srivastava
Professor John Sayer
Dr Simon Ramsbottom
From disease modelling to personalised therapy in patients with CEP290 mutations2017
Dr Holly Mabillard
Dr Shalabh Srivastava
Professor John Sayer
Large Retroperitoneal Haemorrhage Following Cyst Rupture in a Patient with Autosomal Dominant Polycystic Kidney Disease2017
Professor John Sayer
Dr Shalabh Srivastava
Ciliopathies and nephronophthisis2016
Dr Noel Edwards
Dr Sarah Rice
Dr Ann Marie Hynes
Dr Shalabh Srivastava
Dr Iain Moore
et al.
A novel LMX1B mutation in a family with end-stage renal disease of ‘unknown cause’2015
Dr Shalabh Srivastava
Dr Ann Marie Hynes
Dr Colin Miles
Professor John Sayer
Studying mechanisms underlying cystogenesis in NPHP6 in an ex vivo murine collecting duct cell line2015
Dr Ann Marie Hynes
Dr Shalabh Srivastava
Dr Richard Quinton
Dr Harish Datta
Professor John Sayer
et al.
Successful treatment of hypercalcaemia associated with a CYP24A1 mutation with fluconazole2015
Dr Shalabh Srivastava
Dr Noel Edwards
Dr Ann Marie Hynes
Dr Katrina Wood
Mohamed Al-Hamed
et al.
Identification of compound heterozygous KCNJ1 mutations (Encoding ROMK) in a kindred with bartter’s syndrome and a functional analysis of their pathogenicity2013