Oliver Semler

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

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

Risedronate in children with osteogenesis imperfecta: a randomised, double-blind, placebo-controlled trial

Nick Bishop, Silvano Adami, S Faisal Ahmed et al. · The Lancet · 2013 · 200 citations · Full text

Medicine, Orthopedic Surgery, Bone Metabolism +9