Discovery of a novel dominant mutation in the REN gene after forty years of renal disease: a case report

by Rhian L. Clissold, Helen C. Clarke, Olivera Spasic-Boskovic, Kim Brugger, Stephen Abbs, Coralie Bingham, Charles Shaw-Smith
Published 2017-07-01

Inherited and de novo biallelic pathogenic variants in COL11A1 result in type 2 Stickler syndrome with severe hearing loss

by Thomas Nixon, Allan J. Richards, Adrian Lomas, Stephen Abbs, Pradeep Vasudevan, Annie McNinch, Philip Alexander, Martin P. Snead
Published 2020-09-01

Adult female with symptomatic AVPR2-related nephrogenic syndrome of inappropriate antidiuresis (NSIAD)

by Jennifer Hague, Ruth Casey, Jonathan Bruty, Tom Legerton, Stephen Abbs, Susan Oddy, Andrew S Powlson, Mohamed Majeed, Mark Gurnell, Soo-Mi Park, Helen Simpson
Published 2018-01-01

Profiling of Somatic Mutations in Phaeochromocytoma and Paraganglioma by Targeted Next Generation Sequencing Analysis

by Andrea Luchetti, Diana Walsh, Fay Rodger, Graeme Clark, Tom Martin, Richard Irving, Mario Sanna, Masahiro Yao, Mercedes Robledo, Hartmut P. H. Neumann, Emma R. Woodward, Farida Latif, Stephen Abbs, Howard Martin, Eamonn R. Maher
Published 2015-01-01