Kaj Vilhelmsen

Mutations in C10orf11, a Melanocyte-Differentiation Gene, Cause Autosomal-Recessive Albinism

Karen Grønskov, Christopher M. Dooley, Elsebet Østergaard et al. · The American Journal of Human Genetics · 2013 · 125 citations · Full text

Developmental Biology, Mendelian Disorder, Genetic Disorder +4

Autosomal-Recessive Posterior Microphthalmos Is Caused by Mutations in PRSS56, a Gene Encoding a Trypsin-Like Serine Protease

Andreas Gal, Isabella Rau, L. El Matri et al. · The American Journal of Human Genetics · 2011 · 92 citations · Full text

Developmental Biology, Mendelian Disorder, Genetic Disorder +5

Mutations in <i>PCDH21</i> cause autosomal recessive cone-rod dystrophy

Mustafa Batbayli, Kaj Vilhelmsen, Thomas Rosenberg · Journal of Medical Genetics · 2010 · 62 citations · Full text

A novel MERTK deletion is a common founder mutation in the Faroe Islands and is responsible for a high proportion of retinitis pigmentosa cases.

Elsebet Østergaard, Mustafa Batbayli, Kaj Vilhelmsen et al. · PubMed · 2011 · 55 citations · Full text

Hereditary High Hypermetropia in the Faroe Islands

Josefine Fuchs, Kári Holm, Kaj Vilhelmsen et al. · Ophthalmic Genetics · 2005 · 28 citations