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Catherine Willis

Moorfields Eye Hospital

10

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Locus heterogeneity in autosomal recessive congenital cataracts: linkage to 9q and germline HSF4 mutations

2005 Human Genetics
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Mapping of an autosomal recessive congenital cataract locus to chromosome 9q.

2003
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Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa

2002 Human Molecular Genetics
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A Human Homolog of Yeast Pre-mRNA Splicing Gene, PRP31, Underlies Autosomal Dominant Retinitis Pigmentosa on Chromosome 19q13.4 (RP11)

2001 Molecular Cell
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Isolated macular schisis as a cause of visual loss in young females.

2001
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A human homologue of yeast pre mRNA-splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13.4 (RP11).

2001 American Journal of Human Genetics
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Spectrum of Mutations in USH2A in British Patients with Usher Syndrome Type II

2001 Experimental Eye Research
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Congenital stationary night blindness (CSNB) and a 'Schubert-Bornshein' type electrophysiology in a family with dominant inheritance.

2001
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