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 · 984 citations

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 · 364 citations · Full text

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

Uwe Kornak · Human Molecular Genetics · 2000 · 348 citations · Full text

Mutations in WNT1 Cause Different Forms of Bone Fragility

Katharina Keupp, Filippo Beleggia, Hülya Kayserili et al. · The American Journal of Human Genetics · 2013 · 277 citations · Full text

Bone Disease, Bone Fragility, Bone Morphogenic Protein +4

Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome

Tomasz Żemojtel, Sebastian Köhler, Luisa Mackenroth et al. · Science Translational Medicine · 2014 · 259 citations