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

Rare Genetic Variation in 135 Families With Family History Suggestive of X-Linked Intellectual Disability

by Alba Sanchis-Juan, Alba Sanchis-Juan, Christina Bitsara, Kay Yi Low, Keren J. Carss, Keren J. Carss, Courtney E. French, Courtney E. French, Olivera Spasic-Boskovic, Joanna Jarvis, Michael Field, F. Lucy Raymond, F. Lucy Raymond, Detelina Grozeva
Published 2019-06-01

Identification and functional modelling of plausibly causative cis-regulatory variants in a highly-selected cohort with X-linked intellectual disability.

by Hemant Bengani, Detelina Grozeva, Lambert Moyon, Shipra Bhatia, Susana R Louros, Jilly Hope, Adam Jackson, James G Prendergast, Liusaidh J Owen, Magali Naville, Jacqueline Rainger, Graeme Grimes, Mihail Halachev, Laura C Murphy, Olivera Spasic-Boskovic, Veronica van Heyningen, Peter Kind, Catherine M Abbott, Emily Osterweil, F Lucy Raymond, Hugues Roest Crollius, David R FitzPatrick
Published 2021-01-01