Ulrike Schwarze

Aneurysm Syndromes Caused by Mutations in the TGF-β Receptor

Bart Loeys, Ulrike Schwarze, Tammy M. Holm et al. · New England Journal of Medicine · 2006 · 1.6K citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Clinical and Genetic Features of Ehlers–Danlos Syndrome Type IV, the Vascular Type

Melanie Pepin, Ulrike Schwarze, Andrea Superti‐Furga et al. · New England Journal of Medicine · 2000 · 1.3K citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

CRTAP Is Required for Prolyl 3- Hydroxylation and Mutations Cause Recessive Osteogenesis Imperfecta

Roy Morello, Terry Bertin, Yuqing Chen et al. · Cell · 2006 · 530 citations · Full text

Medicine, Genetics, Molecular Genetics +12

Human Ehlers-Danlos Syndrome Type VII C and Bovine Dermatosparaxis Are Caused by Mutations in the Procollagen I N-Proteinase Gene

Alain Colige, Aleksander L. Sieroń, Shi-Wu Li et al. · The American Journal of Human Genetics · 1999 · 365 citations · Full text

Life Sciences, Genetics, Molecular Genetics +5

Homozygosity for a Missense Mutation in SERPINH1, which Encodes the Collagen Chaperone Protein HSP47, Results in Severe Recessive Osteogenesis Imperfecta

Helena E. Christiansen, Ulrike Schwarze, Shawna M. Pyott et al. · The American Journal of Human Genetics · 2010 · 359 citations · Full text

Medicine, Genetics, Molecular Genetics +14