Karl Hackmann

Essential role of cleavage of Polycystin-1 at G protein-coupled receptor proteolytic site for kidney tubular structure

Shengqiang Yu, Karl Hackmann, Jiangang Gao et al. · Proceedings of the National Academy of Sciences · 2007 · 198 citations · Full text

Pkd1 Knockin Mouse, Cellular Physiology, Pc1 Function +21

Gene panel testing of 5589 <i><scp>BRCA</scp>1/2</i>‐negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary Breast and Ovarian Cancer

Jan Hauke, Judit Horváth, Eva Groß et al. · Cancer Medicine · 2018 · 161 citations · Full text

Large scale multifactorial likelihood quantitative analysis of <i>BRCA1</i> and <i>BRCA2</i> variants: An ENIGMA resource to support clinical variant classification

Michael T. Parsons, Emma Tudini, Hongyan Li et al. · Human Mutation · 2019 · 148 citations · Full text

Genetics, Genetic Epidemiology, Pathology +25

BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer

Nana Weber‐Lassalle, Jan Hauke, Juliane Ramser et al. · Breast Cancer Research · 2018 · 127 citations · Full text

Mutations in the Glycosylphosphatidylinositol Gene PIGL Cause CHIME Syndrome

Bobby G. Ng, Karl Hackmann, Melanie A. Jones et al. · The American Journal of Human Genetics · 2012 · 124 citations · Full text

Molecular Physiology, Mendelian Disorder, Genetic Disorder +5