Maria Cordisco

Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused byRASA1 mutations

Nicole Revençu, Laurence M. Boon, John B. Mulliken et al. · Human Mutation · 2008 · 430 citations

Medicine, Genetics, Neurology +17

Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling

Mustapha Amyere, Nicole Revençu, Raphaël Helaers et al. · Circulation · 2017 · 293 citations · Full text

Medicine, Genetics, Molecular Genetics +17

<i>RASA1</i>Mutations and Associated Phenotypes in 68 Families with Capillary Malformation-Arteriovenous Malformation

Nicole Revençu, Laurence M. Boon, Antonella Mendola et al. · Human Mutation · 2013 · 292 citations

Medicine, Genetics, Cardiovascular Genetics +14

Blue Rubber Bleb Nevus (BRBN) Syndrome Is Caused by Somatic TEK (TIE2) Mutations

Julie Soblet, J. Kangas, Marjut Nätynki et al. · Journal of Investigative Dermatology · 2016 · 244 citations

Medicine, Dermatology, Genetics +6

PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution

Ghayda Mirzaa, Andrew E. Timms, Valerio Conti et al. · JCI Insight · 2016 · 190 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17