Diana Carli

Assisted Reproductive Techniques and Risk of Beckwith-Wiedemann Syndrome

Alessandro Mussa, Cristina Molinatto, Flavia Cerrato et al. · PEDIATRICS · 2017 · 141 citations

Complications of Particle Embolization of Meningiomas: Frequency, Risk Factors, and Outcome: Fig 1.

Diana Carli, M. Sluzewski, Guus Beute et al. · American Journal of Neuroradiology · 2009 · 127 citations · Full text

Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes

Eleonora Di Gregorio, Evelise Riberi, Elga Fabia Belligni et al. · Clinical Genetics · 2017 · 88 citations

MEK Inhibition in a Newborn with RAF1-Associated Noonan Syndrome Ameliorates Hypertrophic Cardiomyopathy but Is Insufficient to Revert Pulmonary Vascular Disease

Alessandro Mussa, Diana Carli, Elisa Giorgio et al. · Genes · 2021 · 52 citations · Full text

Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants

Alessandro Mussa, Chiara Leoni, Matteo Iacoviello et al. · Journal of Medical Genetics · 2022 · 48 citations · Full text