Alessandra Costella

A comprehensive BRCA1/2 NGS pipeline for an immediate Copy Number Variation (CNV) detection in breast and ovarian cancer molecular diagnosis

Paola Concolino, Roberta Rizza, Flavio Mignone et al. · Clinica Chimica Acta · 2018 · 55 citations

Life Sciences, Bioinformatics, Molecular Genetics +16

BRCA1 and BRCA2 Testing through Next Generation Sequencing in a Small Cohort of Italian Breast/Ovarian Cancer Patients: Novel Pathogenic and Unknown Clinical Significance Variants

Paola Concolino, G Gelli, Roberta Rizza et al. · International Journal of Molecular Sciences · 2019 · 18 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

A preliminary Quality Control (QC) for next generation sequencing (NGS) library evaluation turns out to be a very useful tool for a rapid detection of BRCA1/2 deleterious mutations

Paola Concolino, Alessandra Costella, Angelo Minucci et al. · Clinica Chimica Acta · 2014 · 17 citations

Life Sciences, Genetics, Molecular Biology +15

A Novel Pathogenic Variant in the N-Terminal Domain of the Glucocorticoid Receptor, Causing Glucocorticoid Resistance

Rosa Maria Paragliola, Alessandra Costella, Andrea Corsello et al. · Molecular Diagnosis & Therapy · 2020 · 13 citations

Life Sciences, Genetics, Molecular Biology +11

Identification and Characterization of a New BRCA2 Rearrangement in an Italian Family with Hereditary Breast and Ovarian Cancer Syndrome

Roberta Rizza, Karl Hackmann, Angelo Minucci et al. · Molecular Diagnosis & Therapy · 2017 · 12 citations

Medicine, Genetics, Molecular Genetics +13