Friederike Koerber

Exome Sequencing Identifies Truncating Mutations in Human SERPINF1 in Autosomal-Recessive Osteogenesis Imperfecta

Jutta Becker, Oliver Semler, Christian Gilissen et al. · The American Journal of Human Genetics · 2011 · 360 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

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

Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics

Claudia Dafinger, Max C. Liebau, Solaf M. Elsayed et al. · Journal of Clinical Investigation · 2011 · 214 citations

Life Sciences, Cell Biology, Genetics +17

A novel homozygous missense mutation in FGF23 causes Familial Tumoral Calcinosis associated with disseminated visceral calcification

Ilana Chefetz, Raoul Heller, Assimina Galli‐Τsinopoulou et al. · Human Genetics · 2005 · 138 citations

Medicine, Genetics, Molecular Genetics +14