Macular corneal dystrophy and associated corneal thinning

Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion

Johan T. den Dunnen, Stylianos E. Antonarakis · Human Mutation · 2000 · 1.8K citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

Automated inference of molecular mechanisms of disease from amino acid substitutions

Biao Li, Vidhya G. Krishnan, Matthew Mort et al. · Bioinformatics · 2009 · 846 citations · Full text

Life Sciences, Bioinformatics, Genetics +9

Functional annotations improve the predictive score of human disease-related mutations in proteins

Remo Calabrese, Emidio Capriotti, Piero Fariselli et al. · Human Mutation · 2009 · 716 citations · Full text

Life Sciences, Bioinformatics, Genetics +17

Macular corneal dystrophy type I and type II are caused by distinct mutations in a new sulphotransferase gene

Tomoya O. Akama, Kohji Nishida, Jun Nakayama et al. · Nature Genetics · 2000 · 297 citations

Medicine, Genetics, Molecular Genetics +16

Clinical and epidemiological features of keratoconus genetic and external factors in the pathogenesis of the disease.

Anna Ihalainen · PubMed · 1986 · 206 citations

Medicine, Dermatology, Ophthalmology +12