Genotype-Phenotype Correlation: A Triple DNA Mutational Event in a Boy Entering Sport Conveys an Additional Pathogenicity Risk

by Giuseppe Limongelli, Marcella Nunziato, Cristina Mazzaccara, Mariano Intrieri, Valeria DArgenio, Maria Valeria Esposito, Emanuele Monda, Federica Di Maggio, Giulia Frisso, Francesco Salvatore
Published 2020-05-01

A Functional Analysis of the Unclassified Pro2767Ser BRCA2 Variant Reveals Its Potential Pathogenicity that Acts by Hampering DNA Binding and Homology-Mediated DNA Repair

by Maria Valeria Esposito, Giuseppina Minopoli, Luciana Esposito, Valeria D’Argenio, Federica Di Maggio, Emanuele Sasso, Massimiliano D’Aiuto, Nicola Zambrano, Francesco Salvatore
Published 2019-09-01

A Novel JAK1 Mutant Breast Implant-Associated Anaplastic Large Cell Lymphoma Patient-Derived Xenograft Fostering Pre-Clinical Discoveries

by Danilo Fiore, Luca Vincenzo Cappelli, Paul Zumbo, Jude M. Phillips, Zhaoqi Liu, Shuhua Cheng, Liron Yoffe, Paola Ghione, Federica Di Maggio, Ahmet Dogan, Inna Khodos, Elisa de Stanchina, Joseph Casano, Clarisse Kayembe, Wayne Tam, Doron Betel, Robin Foa’, Leandro Cerchietti, Raul Rabadan, Steven Horwitz, David M. Weinstock, Giorgio Inghirami
Published 2020-06-01