Katja Stange

Most-cited papers

1. ACVR1 p.Q207E causes classic fibrodysplasia ossificans progressiva and is functionally distinct from the engineered constitutively active ACVR1 p.Q207D variant.

   Julia Haupt, Alexandra Deichsel, Katja Stange, C. Ast +9 more

   2014Human Molecular Genetics44 citations Open access

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2. The Fibrodysplasia Ossificans Progressiva (FOP) mutation p.R206H in ACVR1 confers an altered ligand response.

   Laura Hildebrand, Katja Stange, Alexandra Deichsel, M. Gossen +1 more

   2017Cellular Signalling37 citations Open access

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3. A hypomorphic BMPR1B mutation causes du Pan acromesomelic dysplasia

   Katja Stange, J. Désir, Naseebullah Kakar, T. Mueller +5 more

   2015Orphanet Journal of Rare Diseases21 citations Open access

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4. Molecular analysis of two novel missense mutations in the GDF5 proregion that reduce protein activity and are associated with brachydactyly type C.

   Katja Stange, Tino Thieme, Karen Hertel, Silke Kuhfahl +8 more

   2014Journal of Molecular Biology10 citations Open access

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5. Limb specific Acvr1‐knockout during embryogenesis in mice exhibits great toe malformation as seen in Fibrodysplasia Ossificans Progressiva (FOP)

   Laura Hildebrand, Mareen Schmidt-von Kegler, Maria Walther, P. Seemann +1 more

   2019Developmental Dynamics7 citations Open access

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6. Brachydactyly Type C patient with compound heterozygosity for p.Gly319Val and p.Ile358Thr variants in the GDF5 proregion: benign variants or mutations?

   Katja Stange, C. Ott, M. S. Kegler, G. Gillesen-Kaesbach +3 more

   2015Journal of Human Genetics4 citations Open access

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