GAMES identifies and annotates mutations in next-generation sequencing projects. - Maria Elena Sana; Maria Iascone; Daniela Marchetti; Jeffrey J. T. Palatini; Marco Galasso; Stefano Volinia (Bioinform., 2011)

Dataset relate to article "Severe Epilepsy and Movement Disorder May Be Early Symptoms of TMEM106B-Related Hypomyelinating Leukodystrophy". - Roberta Solazzi; Marco Moscatelli; Davide Rossi Sebastiano; Laura Canafoglia; Laura Pezzoli; Maria Iascone; Tiziana Granata (Zenodo, 2023)

Automated Phenotype-Based Clustering of Clinical Reports Using Large Language Models. - Martina Saletta; Andrea Bombarda; Matteo Bellini; Lucrezia Goisis; Paolo Cazzaniga; Maria Iascone; Domenico Fabio Savo (AIME (2), 2025)

A Flexible and Open-Source Tool for Genetic Variant Annotation. - Andrea Bombarda; Matteo Bellini; Maria Iascone; Domenico Fabio Savo (BIOSTEC (2): HEALTHINF, 2025)