Carl Spickett

An RNA foundation model enables discovery of disease mechanisms and candidate therapeutics

Albi Celaj, Alice Jiexin Gao, Tammy T.Y. Lau et al. · 2023 · 27 citations · Full text

Engineering, Genetics, Molecular Biology +27

Ophthalmic and molecular genetic findings in Kniest dysplasia

Panagiotis I. Sergouniotis, Gregory Fincham, Annie McNinch et al. · Eye · 2015 · 23 citations · Full text

Ocular Disease, Ophthalmology, Genetics +5

ATP7B variant c.1934T > G p.Met645Arg causes Wilson disease by promoting exon 6 skipping

Daniele Merico, Carl Spickett, Matthew O’Hara et al. · npj Genomic Medicine · 2020 · 21 citations · Full text

Deep Intronic Sequence Variants in<i>COL2A1</i>Affect the Alternative Splicing Efficiency of Exon 2, and May Confer a Risk for Rhegmatogenous Retinal Detachment

Carl Spickett, Pirro G. Hysi, Christopher J. Hammond et al. · Human Mutation · 2016 · 17 citations · Full text

Ocular Disease, Genetics, Col2a1 Mutations +22