Long term follow-up of a family with GUCY2D dominant cone dystrophy

by Georgios Tsokolas, Hussein Almuhtaseb, Helen Griffiths, Fatima Shawkat, Reuben J. Pengelly, Sarah Ennis, Andrew Lotery
Published 2018-12-01

A small gene sequencing panel realises a high diagnostic rate in patients with congenital nystagmus following basic phenotyping

by Luke O’Gorman, Chelsea S. Norman, Luke Michaels, Tutte Newall, Andrew H. Crosby, Christopher Mattocks, Angela J. Cree, Andrew J. Lotery, Emma L. Baple, J. Arjuna Ratnayaka, Diana Baralle, Helena Lee, Daniel Osborne, Fatima Shawkat, Jane Gibson, Sarah Ennis, Jay E. Self
Published 2019-09-01

Identification of a functionally significant tri-allelic genotype in the Tyrosinase gene (TYR) causing hypomorphic oculocutaneous albinism (OCA1B)

by Chelsea S. Norman, Luke O’Gorman, Jane Gibson, Reuben J. Pengelly, Diana Baralle, J. Arjuna Ratnayaka, Helen Griffiths, Matthew Rose-Zerilli, Megan Ranger, David Bunyan, Helena Lee, Rhiannon Page, Tutte Newall, Fatima Shawkat, Christopher Mattocks, Daniel Ward, Sarah Ennis, Jay E. Self
Published 2017-06-01