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Office
601 Elmwood Ave
# 697
Rochester, NY 14642Phone+1 585-275-3872
Education & Training
University of Buenos AiresClass of 1972
Certifications & Licensure
NY State Medical License 2013 - 2026
Publications & Presentations
PubMed
- 127 citationsPIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distributionGhayda M. Mirzaa, Andrew E. Timms, Valerio Conti, Evan A. Boyle, Katta M. Girisha
JCI Insight. 2016-06-16 - 277 citationsParkes Weber syndrome, vein of galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutationsNicole Revencu, Laurence M. Boon, John B. Mulliken, Odile Enjolras, Maria R. Cordisco
Human Mutation. 2008-07-01 - 160 citationsGermline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK SignalingMustapha Amyere, Nicole Revencu, Raphaël Helaers, Eleonore Pairet, Eulalia Baselga
Circulation. 2017-09-12
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