Rare retinal complications of bone marrow transplantation (BMT): a case report

by Farhat Butt, Martin McKibbin
Published 2018-09-01

Rapid visualisation of microarray copy number data for the detection of structural variations linked to a disease phenotype.

by Ian M Carr, Christine P Diggle, Kamron Khan, Chris Inglehearn, Martin McKibbin, David T Bonthron, Alexander F Markham, Rashida Anwar, Angus Dobbie, Sergio D J Pena, Manir Ali
Published 2012-01-01

Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing.

by Christopher M Watson, Mohammed El-Asrag, David A Parry, Joanne E Morgan, Clare V Logan, Ian M Carr, Eamonn Sheridan, Ruth Charlton, Colin A Johnson, Graham Taylor, Carmel Toomes, Martin McKibbin, Chris F Inglehearn, Manir Ali
Published 2014-01-01

FENETRE study: quality-assured follow-up of quiescent neovascular age-related macular degeneration by non-medical practitioners: study protocol and statistical analysis plan for a...

by Martin McKibbin, Catey Bunce, Heather Waterman, Aled Jones, Praveen J Patel, Claire Bailey, Faruque Ghanchi, Richard P Gale, Robin Hamilton, Robert Harper, Simon Read, Sajjad Mahmood, Dawn Sim, Janet Peacock, Alijazy Jaber, Saqlain Sadiq, Serena Salvatore
Published 2021-06-01

Identification of Inherited Retinal Disease-Associated Genetic Variants in 11 Candidate Genes

by Galuh D. N. Astuti, L. Ingeborgh van den Born, M. Imran Khan, Christian P. Hamel, Béatrice Bocquet, Gaël Manes, Mathieu Quinodoz, Manir Ali, Carmel Toomes, Martin McKibbin, Mohammed E. El-Asrag, Lonneke Haer-Wigman, Chris F. Inglehearn, Graeme C. M. Black, Carel B. Hoyng, Frans P. M. Cremers, Susanne Roosing
Published 2018-01-01

Disrupted alternative splicing for genes implicated in splicing and ciliogenesis causes PRPF31 retinitis pigmentosa

by Adriana Buskin, Lili Zhu, Valeria Chichagova, Basudha Basu, Sina Mozaffari-Jovin, David Dolan, Alastair Droop, Joseph Collin, Revital Bronstein, Sudeep Mehrotra, Michael Farkas, Gerrit Hilgen, Kathryn White, Kuan-Ting Pan, Achim Treumann, Dean Hallam, Katarzyna Bialas, Git Chung, Carla Mellough, Yuchun Ding, Natalio Krasnogor, Stefan Przyborski, Simon Zwolinski, Jumana Al-Aama, Sameer Alharthi, Yaobo Xu, Gabrielle Wheway, Katarzyna Szymanska, Martin McKibbin, Chris F. Inglehearn, David J. Elliott, Susan Lindsay, Robin R. Ali, David H. Steel, Lyle Armstrong, Evelyne Sernagor, Henning Urlaub, Eric Pierce, Reinhard Lührmann, Sushma-Nagaraja Grellscheid, Colin A. Johnson, Majlinda Lako
Published 2018-10-01