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Mareen Schmidt‐von Kegler

Mutations in PYCR1 cause cutis laxa with progeroid features
2009 · Bruno Reversade, Nathalie Escande-Beillard, et al. · Nature Genetics · 256
Mutations in GDF5 Reveal a Key Residue Mediating BMP Inhibition by NOGGIN
2009 · Petra Seemann, Anja Brehm, et al. · PLoS Genetics · 100
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Brachydactyly type A2 associated with a defect in proGDF5 processing
2008 · Frank Plöger, Petra Seemann, et al. · Human Molecular Genetics · 68
Limb specific Acvr1‐knockout during embryogenesis in mice exhibits great toe malformation as seen in Fibrodysplasia Ossificans Progressiva (FOP)
2019 · Laura Hildebrand, Mareen Schmidt‐von Kegler, et al. · Developmental Dynamics · 7
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Author Correction: Mutations in PYCR1 cause cutis laxa with progeroid features
2022 · Bruno Reversade, Nathalie Escande-Beillard, et al. · Nature Genetics · 3
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Brachydactyly Type C patient with compound heterozygosity for p.Gly319Val and p.Ile358Thr variants in the GDF5 proregion: benign variants or mutations?
2015 · Katja Stange, Claus-Eric Ott, et al. · Journal of Human Genetics · 3
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Mutations in Pycr1 cause progeroid changes in skin and bone due to reduced mitochondrial stress resistance
2010 · B. Reversade, N. Escande-Beillard, et al. · Bone
Nature Genet
2009 · Reversade, B., Escande-Beillard, N., et al. · MPG.PuRe (Max Planck Society)
Hum Mol Genet
2008 · Plöger, F., Seemann, P., et al. · MPG.PuRe (Max Planck Society)
Works count: 11
Citation count: 468
H-index: 5
I10-index: 4
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