Katharina Keupp

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

A Mutation in the 5′-UTR of IFITM5 Creates an In-Frame Start Codon and Causes Autosomal-Dominant Osteogenesis Imperfecta Type V with Hyperplastic Callus

Oliver Semler, Lutz Garbes, Katharina Keupp et al. · The American Journal of Human Genetics · 2012 · 240 citations · Full text

Medicine, Genetics, Molecular Genetics +12

Attenuated BMP1 Function Compromises Osteogenesis, Leading to Bone Fragility in Humans and Zebrafish

P. V. Asharani, Katharina Keupp, Oliver Semler et al. · The American Journal of Human Genetics · 2012 · 227 citations · Full text

Life Sciences, Genetics, Physiology +14

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 · 168 citations · Full text

Life Sciences, Genetics, Oncology +17

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 · 152 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17