Sylvie Manouvrier

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

Germline deletion of the miR-17∼92 cluster causes skeletal and growth defects in humans

Loïc de Pontual, Evelyn Yao, Patrick Callier et al. · Nature Genetics · 2011 · 306 citations · Full text

Developmental Biology, Growth Defects, Human Growth +9

Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (<i>TUBA1A</i>)

Karine Poirier, David A. Keays, Fiona Francis et al. · Human Mutation · 2007 · 230 citations

Cleft lip/palate and <i>CDH1/E-cadherin</i> mutations in families with hereditary diffuse gastric cancer

Thierry Frébourg, Carla Oliveíra, Patrick Hochain et al. · Journal of Medical Genetics · 2005 · 201 citations · Full text

Treacher Collins syndrome: a clinical and molecular study based on a large series of patients

Marie Vincent, David Geneviève, Agnès Ostertag et al. · Genetics in Medicine · 2015 · 159 citations

Large Series, Collins Syndrome, Molecular Study +1