Mariangela Santorsola

MToolBox: a highly automated pipeline for heteroplasmy annotation and prioritization analysis of human mitochondrial variants in high-throughput sequencing

Claudia Calabrese, Domenico Simone, Maria Angela Diroma et al. · Bioinformatics · 2014 · 222 citations · Full text

Breast Cancer Organoids Model Patient-Specific Response to Drug Treatment

Elena Campaner, Alessandro Zannini, Mariangela Santorsola et al. · Cancers · 2020 · 81 citations · Full text

Extraction and annotation of human mitochondrial genomes from 1000 Genomes Whole Exome Sequencing data

Maria Angela Diroma, Claudia Calabrese, Domenico Simone et al. · BMC Genomics · 2014 · 72 citations · Full text

HmtDB 2016: data update, a better performing query system and human mitochondrial DNA haplogroup predictor

Rosanna Clima, Roberto Preste, Claudia Calabrese et al. · Nucleic Acids Research · 2016 · 58 citations · Full text

Genetics, Genomics, Bioinformatics Database +18

The prolyl-isomerase PIN1 is essential for nuclear Lamin-B structure and function and protects heterochromatin under mechanical stress

Francesco Napoletano, Gloria Ferrari Bravo, Ilaria Anna Pia Voto et al. · Cell Reports · 2021 · 37 citations · Full text