Peter H. Byers

The 2017 international classification of the Ehlers–Danlos syndromes

Fransiska Malfait, Clair A. Francomano, Peter H. Byers et al. · American Journal of Medical Genetics Part C Seminars in Medical Genetics · 2017 · 1.9K citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

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

Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm

Mark E. Lindsay, Dorien Schepers, Nikhita Bolar et al. · Nature Genetics · 2012 · 464 citations · Full text

Medicine, Genetics, Molecular Genetics +16