Anne De Paepe

Ehlers-Danlos syndromes: Revised nosology, Villefranche, 1997

Peter Beighton, Anne De Paepe, Beat Steinmann et al. · American Journal of Medical Genetics · 1998 · 1.7K citations

Revised diagnostic criteria for the Marfan syndrome

Anne De Paepe, Richard B. Devereux, Harry C. Dietz et al. · American Journal of Medical Genetics · 1996 · 1.6K citations

Effect of Mutation Type and Location on Clinical Outcome in 1,013 Probands with Marfan Syndrome or Related Phenotypes and FBN1 Mutations: An International Study

Laurence Faivre, Gwenaëlle Collod‐Béroud, Bart Loeys et al. · The American Journal of Human Genetics · 2007 · 593 citations · Full text

Marfan Syndrome, Mendelian Disorder, Genetic Disorder +11

Association of Type and Location of<i>BRCA1</i>and<i>BRCA2</i>Mutations With Risk of Breast and Ovarian Cancer

Timothy R. Rebbeck, Nandita Mitra, Fei Wan et al. · JAMA · 2015 · 484 citations · Full text

Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis

Jan Hellemans, Olena Preobrazhenska, Andy Willaert et al. · Nature Genetics · 2004 · 454 citations · Full text

Lemd3 Result, Developmental Biology, Sclerostin +9