Uwe Kornak

Loss of the ClC-7 Chloride Channel Leads to Osteopetrosis in Mice and Man

Uwe Kornak, Dagmar Kasper, Michael R. Bösl et al. · Cell · 2001 · 989 citations

Natural Sciences, Cell Biology, Molecular Genetics +17

Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2

Uwe Kornak, Ellen Reynders, Aikaterini Dimopoulou et al. · Nature Genetics · 2007 · 376 citations · Full text

Life Sciences, Genetics, Molecular Biology +12

Loss of the chloride channel ClC‐7 leads to lysosomal storage disease and neurodegeneration

Dagmar Kasper, Rosa Planells‐Cases, Jens C. Fuhrmann et al. · The EMBO Journal · 2005 · 365 citations · Full text

Life Sciences, Neurobiology, Neuroscience +14

Mutations in the a3 subunit of the vacuolar H+-ATPase cause infantile malignant osteopetrosis

Uwe Kornak · Human Molecular Genetics · 2000 · 350 citations · Full text

Medicine, Genetics, Molecular Biology +15

Mutations in WNT1 Cause Different Forms of Bone Fragility

Katharina Keupp, Filippo Beleggia, Hülya Kayserili et al. · The American Journal of Human Genetics · 2013 · 283 citations · Full text

Medicine, Genetics, Molecular Genetics +13