Large scale multifactorial likelihood quantitative analysis of <i>BRCA1</i> and <i>BRCA2</i> variants: An ENIGMA resource to support clinical variant classification

Michael T. Parsons, Emma Tudini, Hongyan Li, +214

Human Mutation

GeneticsGenetic EpidemiologyPathologyMultifactorial Likelihood AnalysisDisease Gene Identification +23

A SMYD3 Small‐Molecule Inhibitor Impairing Cancer Cell Growth

Alessia Peserico, Aldo Germani, Paola Sanese, +10

Journal of Cellular Physiology

Molecular and Functional Characterization of Three Different Postzygotic Mutations in PIK3CA-Related Overgrowth Spectrum (PROS) Patients: Effects on PI3K/AKT/mTOR Signaling and Sensitivity to PIK3 Inhibitors

Daria Carmela Loconte, Valentina Grossi, Cristina Bozzao, +15

PLoS ONE

Targeted therapy against chemoresistant colorectal cancers: Inhibition of p38α modulates the effect of cisplatin in vitro and in vivo through the tumor suppressor FoxO3A

Aldo Germani, Antonio Matrone, Valentina Grossi, +10

Cancer Letters

OncologyTumor Suppressor Foxo3aMedicineColorectal CancerCancer Cell Biology +7

Blocking p38/ERK crosstalk affects colorectal cancer growth by inducing apoptosis in vitro and in preclinical mouse models

Fulvio Chiacchiera, Valentina Grossi, Marianna Cappellari, +8

Cancer Letters

Colorectal Cancer GrowthP38/erk CrosstalkChemoprevention StrategyMedicineApoptosis +10

Loss of STK11 expression is an early event in prostate carcinogenesis and predicts therapeutic response to targeted therapy against MAPK/p38

Valentina Grossi, Giuseppe Lucarelli, Giovanna Forte, +17

Autophagy

Stk11 ExpressionAmpk InactivationUrologyPerineural InvasionGenitourinary Cancer +10

A Next-Generation Sequencing Approach to Identify Gene Mutations in Early- and Late-Onset Hypertrophic Cardiomyopathy Patients of an Italian Cohort

Speranza Rubattu, Cristina Bozzao, Ermelinda Pennacchini, +9

International Journal of Molecular Sciences

Heart FailureGenetic TestingGeneticsGenetic EpidemiologyPathology +23

Risk Stratification in Hypertrophic Cardiomyopathy. Insights from Genetic Analysis and Cardiopulmonary Exercise Testing

Damiano Magrì, Vittoria Mastromarino, Giovanna Gallo, +16

Journal of Clinical Medicine

Rapid detection of copy number variations and point mutations in <i>BRCA1/2</i> genes using a single workflow by ion semiconductor sequencing pipeline

Aldo Germani, Fabio Libi, S Maggi, +9

Oncotarget

Long QTc in hypertrophic cardiomyopathy: A consequence of structural myocardial damage or a distinct genetic disease?

Francesco Cava, Caterina Micolonghi, Beatrice Musumeci, +13

Frontiers in Cardiovascular Medicine