Katherine V. Towns

Mutations in LRP5 or FZD4 Underlie the Common Familial Exudative Vitreoretinopathy Locus on Chromosome 11q

Carmel Toomes, H.M. Bottomley, Richard M. Jackson et al. · The American Journal of Human Genetics · 2004 · 370 citations · Full text

Fzd4 Underlie, Chromosome 11Q, Mendelian Disorder +8

Null Mutations in LTBP2 Cause Primary Congenital Glaucoma

Manir Ali, Martin McKibbin, Adam Booth et al. · The American Journal of Human Genetics · 2009 · 322 citations · Full text

Mendelian Disorder, Ophthalmology, Null Mutations +4

Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis

Anneke I. den Hollander, Robert K. Koenekoop, Moin Mohamed et al. · Nature Genetics · 2007 · 199 citations

Developmental Biology, Mendelian Disorder, Genetic Disorder +8

Autosomal Dominant Optic Atrophy: Penetrance and Expressivity in Patients With OPA1 Mutations

Amy Cohn, Carmel Toomes, Catherine Potter et al. · American Journal of Ophthalmology · 2007 · 130 citations

Ocular Disease, Mendelian Disorder, Ophthalmology +6

Loss of the Metalloprotease ADAM9 Leads to Cone-Rod Dystrophy in Humans and Retinal Degeneration in Mice

David Parry, Carmel Toomes, L. Bida et al. · The American Journal of Human Genetics · 2009 · 87 citations · Full text