Loreto Martorell

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 · 424 citations

Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder

Willemijn G. Leen, Jörg Klepper, Marcel M. Verbeek et al. · Brain · 2010 · 406 citations · Full text

Generalized Arterial Calcification of Infancy and Pseudoxanthoma Elasticum Can Be Caused by Mutations in Either ENPP1 or ABCC6

Yvonne Nitschke, Geneviève Baujat, Ulrike Botschen et al. · The American Journal of Human Genetics · 2011 · 335 citations · Full text

Mechanobiology, Developmental Anomaly, Either Enpp1 +7

Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity

Ruxandra Bachmann‐Gagescu, Jennifer C. Dempsey, Ian G. Phelps et al. · Journal of Medical Genetics · 2015 · 293 citations · Full text

<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 · 282 citations