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