Publications by Dr Shalabh Srivastava - ePrints

Browsing publications by Dr Shalabh Srivastava.

Newcastle Authors	Title	Year
Dr Elisa Molinari Dr Shalabh Srivastava Becky Dewhurst Professor John Sayer	Use of patient derived urine renal epithelial cells to confirm pathogenicity of PKHD1 alleles	2020
Sumaya Alkanderi Dr Elisa Molinari Veronica Sammut Dr Simon Ramsbottom Dr Shalabh Srivastava et al.	ARL3 Mutations Cause Joubert Syndrome by Disrupting Ciliary Protein Composition	2018
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
Dr Shalabh Srivastava Dr Elisa Molinari Professor John Sayer	Many genes-one disease? Genetics of nephronophthisis (NPHP) and NPHP-associated disorders	2018
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 model	2018
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 model	2018
Dr Shalabh Srivastava Dr Simon Ramsbottom Dr Elisa Molinari Sumaya Alkanderi Professor Andrew Filby et al.	A human patient-derived cellular model of Joubert syndrome reveals ciliary defects which can be rescued with targeted therapies	2017
Dr Elisa Molinari Dr Shalabh Srivastava Professor John Sayer Dr Simon Ramsbottom	From disease modelling to personalised therapy in patients with CEP290 mutations	2017
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
Professor John Sayer Dr Shalabh Srivastava	Ciliopathies and nephronophthisis	2016
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 line	2015
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 fluconazole	2015
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 pathogenicity	2013