C
Catherine Willis
Researcher at Moorfields Eye Hospital
Publications - 7
Citations - 982
Catherine Willis is an academic researcher from Moorfields Eye Hospital. The author has contributed to research in topics: PRPF31 & Retinitis pigmentosa. The author has an hindex of 7, co-authored 7 publications receiving 939 citations. Previous affiliations of Catherine Willis include University College London.
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Journal ArticleDOI
A Human Homolog of Yeast Pre-mRNA Splicing Gene, PRP31, Underlies Autosomal Dominant Retinitis Pigmentosa on Chromosome 19q13.4 (RP11)
Eranga N. Vithana,Leen Abu-Safieh,Maxine J. Allen,Alisoun H. Carey,Myrto Papaioannou,Christina Chakarova,M Al-Maghtheh,Neil D. Ebenezer,Catherine Willis,Anthony T. Moore,Anthony T. Moore,Alan C. Bird,Alan C. Bird,David M. Hunt,Shomi S. Bhattacharya +14 more
TL;DR: This paper reported mutations in a gene (PRPF31) homologous to Saccharomyces cerevisiae pre-mRNA splicing gene PRP31 in families with autosomal dominant retinitis pigmentosa linked to chromosome 19q13.4 (RP11; MIM 600138).
Journal ArticleDOI
Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa
Christina Chakarova,Matthew M. Hims,Hanno J. Bolz,Leen Abu-Safieh,Reshma Patel,Myrto Papaioannou,Chris F. Inglehearn,T. Jeffrey Keen,Catherine Willis,Anthony T. Moore,Thomas Rosenberg,Andrew R. Webster,Alan C. Bird,Andreas Gal,David M. Hunt,Eranga N. Vithana,Shomi S. Bhattacharya +16 more
TL;DR: The identification of mutations in a third pre-mRNA splicing factor gene further highlights a novel mechanism of photoreceptor degeneration due to defects in the splicing process.
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PAX6 haploinsufficiency causes cerebral malformation and olfactory dysfunction in humans
Sanjay M. Sisodiya,Samantha L. Free,Kathleen A. Williamson,Tejal N. Mitchell,Catherine Willis,John M. Stevens,Brian Kendall,Simon Shorvon,Isabel M. Hanson,Anthony T. Moore,Veronica van Heyningen +10 more
TL;DR: MRI and smell testing reveal the absence or hypoplasia of the anterior commissure and reduced olfaction in a large proportion of aniridia cases, which shows that PAX6 haploinsuffiency causes more widespread human neuro developmental anomalies.
Journal ArticleDOI
Locus heterogeneity in autosomal recessive congenital cataracts: linkage to 9q and germline HSF4 mutations
Tim Forshew,Colin A. Johnson,Shagufta Khaliq,Shanaz Pasha,Catherine Willis,Rashida Abbasi,Louise Tee,Ursula M Smith,Richard C. Trembath,Syed Qasim Mehdi,Anthony T. Moore,Eamonn R. Maher +11 more
TL;DR: Genetic linkage studies in four consanguineous Pakistani families with non-syndromic autosomal recessive congenital cataracts confirmed that mutations in HSF4 may result in both autosomal dominant and autosomal recombinant cataract, and highlight the locus heterogeneity in autosomic recessive Congenital Cataract.
Journal ArticleDOI
Spectrum of Mutations in USH2A in British Patients with Usher Syndrome Type II
Bart Leroy,Jose Antonio Aragon-Martin,Michael D. Weston,David A.R. Bessant,Catherine Willis,Andrew R. Webster,Alan C. Bird,William J. Kimberling,Annette M. Payne,Shomi S. Bhattacharya +9 more
TL;DR: The results indicate that mutations in this gene are responsible for disease in a large proportion of British Usher type II patients, and if screening for mutations in USH2A is considered, it is sensible to screen for the del2299G mutation first.