Potentially Treatable Disorder Diagnosed Post Mortem by Exome Analysis in a Boy with Respiratory Distress

by Valentina Imperatore, Maria Antonietta Mencarelli, Chiara Fallerini, Laura Bianciardi, Francesca Ariani, Simone Furini, Alessandra Renieri, Francesca Mari, Elisa Frullanti
Published 2016-02-01

A Rare Case of Brachyolmia with Amelogenesis Imperfecta Caused by a New Pathogenic Splicing Variant in <i>LTBP3</i>

by Elisabetta Flex, Valentina Imperatore, Giovanna Carpentieri, Alessandro Bruselles, Andrea Ciolfi, Simone Pizzi, Maria Giovanna Tedesco, Daniela Rogaia, Amedea Mencarelli, Giuseppe Di Cara, Alberto Verrotti, Stefania Troiani, Giuseppe Merla, Marco Tartaglia, Paolo Prontera
Published 2021-09-01

Identification of a DNA Methylation Episignature in the 22q11.2 Deletion Syndrome

by Kathleen Rooney, Michael A. Levy, Sadegheh Haghshenas, Jennifer Kerkhof, Daniela Rogaia, Maria Giovanna Tedesco, Valentina Imperatore, Amedea Mencarelli, Gabriella Maria Squeo, Eleonora Di Venere, Giuseppe Di Cara, Alberto Verrotti, Giuseppe Merla, Matthew L. Tedder, Barbara R. DuPont, Bekim Sadikovic, Paolo Prontera
Published 2021-08-01

Usefulness and Limitations of Comprehensive Characterization of mRNA Splicing Profiles in the Definition of the Clinical Relevance of BRCA1/2 Variants of Uncertain Significance

by Elisa Gelli, Mara Colombo, Anna Maria Pinto, Giovanna De Vecchi, Claudia Foglia, Sara Amitrano, Valeria Morbidoni, Valentina Imperatore, Siranoush Manoukian, Margherita Baldassarri, Caterina Lo Rizzo, Lorenza Catania, Elisa Frullanti, Enrico Tagliafico, Laura Cortesi, Federica Spaggiari, Maria Antonietta Mencarelli, Eva Trevisson, Paolo Radice, Alessandra Renieri, Francesca Ariani
Published 2019-03-01