Anne M. De Paepe

The revised Ghent nosology for the Marfan syndrome: Table 1

Bart Loeys, Harry C. Dietz, Alan C. Braverman et al. · Journal of Medical Genetics · 2010 · 2.2K citations · Full text

A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2

Bart Loeys, Junji Chen, Enid Neptune et al. · Nature Genetics · 2005 · 1.8K citations

Developmental Anomaly, Developmental Biology, Craniofacial Anomalies +9

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

Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families

Bert Callewaert, Andy Willaert, Wilhelmina S. Kerstjens‐Frederikse et al. · Human Mutation · 2007 · 209 citations

Slc2a10 Mutations, Genetics, Vascular Malformation +19

A Novel Disorder Caused by Defective Biosynthesis of N-Linked Oligosaccharides Due to Glucosidase I Deficiency

Claudine M. De Praeter, Gerrit J. Gerwig, Ernst Bause et al. · The American Journal of Human Genetics · 2000 · 190 citations · Full text

Biosynthesis, Engineering, Cellular Enzymology +12