Christine Muti

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 · 603 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome

Cathérine Boileau, Dong Guo, Nadine Hanna et al. · Nature Genetics · 2012 · 379 citations

Medicine, Genetics, Molecular Genetics +14

Identification in Daily Practice of Patients With Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer): Revised Bethesda Guidelines-Based Approach<i>Versus</i>Molecular Screening

Catherine Julié, Christophe Trésallet, Antoine Brouquet et al. · The American Journal of Gastroenterology · 2008 · 127 citations

Medicine, Genetics, Oncology +17

Maternal complication of pregnancy in Marfan syndrome

Laure Pacini, Frank Digne, Ariane Boumendil et al. · International Journal of Cardiology · 2008 · 106 citations

Medicine, Gynecology, Obstetrics +13

Hypophosphatasia: a genetic-based nosology and new insights in genotype-phenotype correlation

Étienne Mornet, A. Taillandier, Christelle Domingues et al. · European Journal of Human Genetics · 2020 · 104 citations · Full text

Life Sciences, Genetics, Molecular Genetics +7