Publications

Browse our publications catalogue to learn about our research.
Bridging the language gap - A call for the wider use of Human phenotype ontology by non-geneticist clinicians when requesting genomic tests
Larissa Ange Tchuisseu-Kwangoua, Joseph Kamtchum-Tatuene, Cedrik Tekendo-Ngongang, Reuben Pengelly & Jay Self, 2023, European Journal of Medical Genetics, 66(2)
DOI: 10.1016/j.ejmg.2022.104679
Type: article
Human equivalent doses of l-DOPA rescues retinal morphology and visual function in a murine model of albinism
Aida Sanchez-Bretano, Eloise Keeling, Jennifer A. Scott, Savannah A. Lynn, Sudha Priya Soundara-Pandi, Sarah L. Macdonald, Tutte Newall, Helen Griffiths, Andrew J. Lotery, J. Arjuna Ratnayaka, Jay E. Self & Helena Lee, 2023, Scientific Reports, 13
DOI: 10.1038/s41598-023-44373-3
Type: article
The orphan drug for Acanthamoeba keratitis (ODAK) trial: PHMB 0.08% (polihexanide) and placebo versus PHMB 0.02% and propamidine 0.1%
John K.G. Dart, Vincenzo Papa, Paolo Rama, Karl Anders Knutsson, Saj Ahmad, Scott Hau, Sara Sanchez, Antonella Franch, Federica Birattari, Pia Leon, Adriano Fasolo, Ewa Mrukwa Kominek, Katarzyna Jadczyk-Sorek, Fiona Carley, Parwez Hossain & Darwin C. Minassian, 2023, Ophthalmology
DOI: 10.1016/j.ophtha.2023.09.031
Type: article
Retinal development in infants and young children with albinism: evidence for plasticity in early childhood
Helena Lee, Ravi Purohit, Viral Sheth, Gail Maconachie, Tu Zhanhan, Mervyn G. Thomas, Anastasia Pilat, Rebecca J. McLean, Frank A. Proudlock & Irene Gottlob, 2023, American Journal of Ophthalmology, 245, 202-211
DOI: 10.1016/j.ajo.2022.08.028
Type: article
Analysis of Fibroblast Growth Factor 14 (FGF14) structural variants reveals the genetic basis of the early onset nystagmus locus NYS4 and variable ataxia
Fabiola Ceroni, Daniel Osborne, Samuel Clokie, Doreen Bax, Emma Cassidy, Matt Dunn, Chris M. Harris, Jay Self & Nicola K. Ragge, 2022, European Journal of Human Genetics
DOI: 10.1038/s41431-022-01197-5
Type: article
A high fat "Western-style" diet induces AMD-like features in Wildtype mice
Eloise Keeling, Savannah A Lynn, Yen Min Koh, Jenny A Scott, Aaron Kendall, Maureen Gatherer, Anton Page, Felino R Cagampang, Andrew J Lotery & J Arjuna Ratnayaka, 2022, Molecular Nutrition & Food Research, 66(11), e2100823
DOI: 10.1002/mnfr.202100823
Type: article
Generation of a cone photoreceptor-specific GNGT2 reporter line in human pluripotent stem cells
Liliya Nazlamova, Emma Jane Cassidy, Jane C. Sowden, Andrew Lotery & Jörn Lakowski, 2022, Stem cells (Dayton, Ohio), 40(2), 190-203
DOI: 10.1093/stmcls/sxab015
Type: article