Publications by Sumaya Alkanderi - ePrints

Browsing publications by Sumaya Alkanderi.

Newcastle Authors	Title	Year
Sumaya Alkanderi Professor John Sayer	Biallelic CYP24A1 variants presenting during pregnancy: Clinical and biochemical phenotypes	2020
Sumaya Alkanderi Professor John Sayer	Novel CYP24A1 Mutation in a Young Male Patient with Nephrolithiasis: Case Report	2019
Dr Elisa Molinari Dr Simon Ramsbottom Dr Shalabh Srivastava Philip Booth Sumaya Alkanderi et al.	Targeted exon skipping rescues ciliary protein composition defects in Joubert syndrome patient fibroblasts	2019
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 Noel Edwards Sumaya Alkanderi Professor John Sayer	Acidosis and Deafness in Patients with Recessive Mutations in FOXI1	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 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
Sumaya Alkanderi Dr Laura Yates Dr Sally Johnson Professor John Sayer	Lessons learned from a multidisciplinary renal genetics clinic	2017