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

Jutta Becker, Oliver Semler, Christian Gilissen, +14

The American Journal of Human Genetics

SclerostinDevelopmental BiologyMendelian DisorderGenetic DisorderHuman Serpinf1 +8

Mutations in WNT1 Cause Different Forms of Bone Fragility

Katharina Keupp, Filippo Beleggia, Hülya Kayserili, +33

The American Journal of Human Genetics

Bone DiseaseBone FragilityBone Morphogenic ProteinGeneticsBone Homeostasis +2

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, +11

The American Journal of Human Genetics

Developmental BiologyGenetic DisorderMedicineGeneticsBone Remodeling +5

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

P. V. Asharani, Katharina Keupp, Oliver Semler, +19

The American Journal of Human Genetics

MechanobiologyBone FragilityDevelopmental BiologySclerostinBone Morphogenic Protein +10

Mutations in SEC24D, Encoding a Component of the COPII Machinery, Cause a Syndromic Form of Osteogenesis Imperfecta

Lutz Garbes, Kyung‐Ho Kim, Angelika Rieß, +18

The American Journal of Human Genetics

Developmental BiologyCell DivisionBone Morphogenic ProteinGenetic DisorderGenetics +10

LRP4 Mutations Alter Wnt/β-Catenin Signaling and Cause Limb and Kidney Malformations in Cenani-Lenz Syndrome

Yun Li, Barbara Pawlik, Nursel Elçioğlu, +22

The American Journal of Human Genetics

Two years’ experience with denosumab for children with Osteogenesis imperfecta type VI

Heike Hoyer‐Kuhn, Christian Netzer, Friederike Koerber, +2

Orphanet Journal of Rare Diseases

Safety and efficacy of denosumab in children with osteogenesis imperfect--a first prospective trial.

Heike Hoyer‐Kuhn, Jessica M. Franklin, M. Kron, +5

PubMed

Novel CCM1, CCM2, and CCM3 mutations in patients with cerebral cavernous malformations: in-frame deletion in CCM2 prevents formation of a CCM1/CCM2/CCM3 protein complex

Sonja Stahl, Sabine Gaetzner, Bettina Brackertz, +13

Human Mutation

GeneticsSplice VariantPathologyDisease Gene IdentificationSplicing Variant +14

First use of the RANKL antibody denosumab in osteogenesis imperfecta type VI.

Oliver Semler, Christian Netzer, Heike Hoyer‐Kuhn, +3

PubMed