Alison J. Hardcastle

A foundation model for generalizable disease detection from retinal images

Yukun Zhou, Mark A. Chia, Siegfried K. Wagner et al. · Nature · 2023 · 697 citations · Full text

Identification and Correction of Mechanisms Underlying Inherited Blindness in Human iPSC-Derived Optic Cups

David A. Parfitt, Amelia Lane, Conor M. Ramsden et al. · Cell stem cell · 2016 · 297 citations · Full text

The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein

Carsten M. Pusch, Christina Zeitz, Oliver Brandau et al. · Nature Genetics · 2000 · 259 citations

Developmental Anomaly, Mendelian Disorder, Ophthalmology +9

Modeling and Rescue of RP2 Retinitis Pigmentosa Using iPSC-Derived Retinal Organoids

Amelia Lane, Katarina Jovanović, Ciara Shortall et al. · Stem Cell Reports · 2020 · 177 citations · Full text

Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23)

Tom R. Webb, David A. Parfitt, J.C. Gardner et al. · Human Molecular Genetics · 2012 · 151 citations · Full text