Klaus Kjaer

Blue eye color in humans may be caused by a perfectly associated founder mutation in a regulatory element located within the HERC2 gene inhibiting OCA2 expression

Hans Eiberg, Jesper T. Troelsen, Mette Ødegaard Nielsen et al. · Human Genetics · 2008 · 341 citations

Founder Mutation, Herc2 Gene, Natural Sciences +6

Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome

Irene A. Aligianis, Colin A. Johnson, Paul Gissen et al. · Nature Genetics · 2005 · 224 citations

Mendelian Disorder, Genetic Disorder, Natural Sciences +7

Duplications Involving a Conserved Regulatory Element Downstream of BMP2 Are Associated with Brachydactyly Type A2

Katarina Dathe, Klaus Kjaer, Anja Brehm et al. · The American Journal of Human Genetics · 2009 · 158 citations · Full text

Natural Sciences, Genetics, Bmp2 Are Associated +9

A New Subtype of Brachydactyly Type B Caused by Point Mutations in the Bone Morphogenetic Protein Antagonist NOGGIN

Katarina Lehmann, Petra Seemann, Timm O. Goecke et al. · The American Journal of Human Genetics · 2007 · 151 citations · Full text

Sclerostin, Developmental Biology, New Subtype +9

Genetic Heterogeneity in Microcornea-Cataract: Five Novel Mutations in<i>CRYAA</i>,<i>CRYGD</i>, and<i>GJA8</i>

Lars Hestbjerg Hansen, Wenliang Yao, Hans Eiberg et al. · Investigative Ophthalmology & Visual Science · 2007 · 131 citations