Gioia Mastromoro

When to test fetuses for RASopathies? Proposition from a systematic analysis of 352 multicenter cases and a postnatal cohort

Alexandra MS Scott, Niccolò Di Giosaffatte, Valentina Pinna et al. · Genetics in Medicine · 2021 · 47 citations · Full text

Medicine, Obstetrics, Pediatrics +11

Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications

Valérie Chune, Francesca Pantaleoni, Alessandro De Luca et al. · European Journal of Human Genetics · 2020 · 31 citations · Full text

Life Sciences, Molecular Medicine, Human Genetics +5

Clinical and functional characterization of a novel RASopathy‐causing<i>SHOC2</i>mutation associated with prenatal‐onset hypertrophic cardiomyopathy

Marialetizia Motta, Gioia Mastromoro, Balasubramanian Chandramouli et al. · Human Mutation · 2019 · 22 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Left pulmonary artery in 22q11.2 deletion syndrome. Echocardiographic evaluation in patients without cardiac defects and role of Tbx1 in mice

Gioia Mastromoro, Giulio Calcagni, Paolo Versacci et al. · PLoS ONE · 2019 · 18 citations · Full text

Life Sciences, Cardiology, Genetics +17

A new case of SMABF2 diagnosed in stillbirth expands the prenatal presentation and mutational spectrum of <i>ASCC1</i>

Maria Grazia Giuffrida, Gioia Mastromoro, Valentina Guida et al. · American Journal of Medical Genetics Part A · 2019 · 14 citations

Life Sciences, Genetics, Molecular Genetics +17