Genetic counselors and Genomic Counseling in the United Kingdom

by Middleton, Anna, Hall, Georgina, Patch, Christine
Published 2015

Improving diagnosis for congenital cataract by introducing NGS genetic testing

by Musleh, Mohammud, Ashworth, Jane, Black, Graeme, Hall, Georgina
Published 2016

The role of small in-frame insertions/deletions in inherited eye disorders and how structural modelling can help estimate their pathogenicity

by Sergouniotis, Panagiotis I., Barton, Stephanie J., Waller, Sarah, Perveen, Rahat, Ellingford, Jamie M., Campbell, Christopher, Hall, Georgina, Gillespie, Rachel L., Bhaskar, Sanjeev S., Ramsden, Simon C., Black, Graeme C., Lovell, Simon C.
Published 2016

Molecular findings from 537 individuals with inherited retinal disease

by Ellingford, Jamie M, Barton, Stephanie, Bhaskar, Sanjeev, O'Sullivan, James, Williams, Simon G, Lamb, Janine A, Panda, Binay, Sergouniotis, Panagiotis I, Gillespie, Rachel L, Daiger, Stephen P, Hall, Georgina, Gale, Theodora, Lloyd, I Christopher, Bishop, Paul N, Ramsden, Simon C, Black, Graeme C M
Published 2016

A novel 33‐Gene targeted resequencing panel provides accurate, clinical‐grade diagnosis and improves patient management for rare inherited anaemias

by Roy, Noémi B. A., Wilson, Edward A., Henderson, Shirley, Wray, Katherine, Babbs, Christian, Okoli, Steven, Atoyebi, Wale, Mixon, Avery, Cahill, Mary R., Carey, Peter, Cullis, Jonathan, Curtin, Julie, Dreau, Helene, Ferguson, David J. P., Gibson, Brenda, Hall, Georgina, Mason, Joanne, Morgan, Mary, Proven, Melanie, Qureshi, Amrana, Sanchez Garcia, Joaquin, Sirachainan, Nongnuch, Teo, Juliana, Tedgård, Ulf, Higgs, Doug, Roberts, David, Roberts, Irene, Schuh, Anna
Published 2016

Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease

by Ellingford, Jamie M., Barton, Stephanie, Bhaskar, Sanjeev, Williams, Simon G., Sergouniotis, Panagiotis I., O'Sullivan, James, Lamb, Janine A., Perveen, Rahat, Hall, Georgina, Newman, William G., Bishop, Paul N., Roberts, Stephen A., Leach, Rick, Tearle, Rick, Bayliss, Stuart, Ramsden, Simon C., Nemeth, Andrea H., Black, Graeme C.M.
Published 2016