1. A novel germline variant in PIK3R1 results in SHORT syndrome associated with TAL/LMO T‐cell acute lymphoblastic leukemia. Issue 12 (30th September 2020) Authors: Marzollo, Antonio; Maestrini, Giacomo; La Starza, Roberta; Elia, Loredana; Malfona, Francesco; Pierini, Tiziana; Tretti Parenzan, Caterina; Coppe, Alessandro; Bortoluzzi, Stefania; Biffi, Alessandra; Mecucci, Cristina; Bresolin, Silvia; Testi, Anna Maria Journal: American journal of hematology Issue: Volume 95:Issue 12(2020:Dec.) Page Start: E335 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. IWhale: a computational pipeline based on Docker and SCons for detection and annotation of somatic variants in cancer WES data. Issue 3 (20th May 2020) Authors: Binatti, Andrea; Bresolin, Silvia; Bortoluzzi, Stefania; Coppe, Alessandro Journal: Briefings in bioinformatics Issue: Volume 22:Issue 3(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Somatic mutations activating Wiskott–Aldrich syndrome protein concomitant with RAS pathway mutations in juvenile myelomonocytic leukemia patients. Issue 4 (19th January 2018) Authors: Coppe, Alessandro; Nogara, Leonardo; Pizzuto, Matteo Samuele; Cani, Alice; Cesaro, Simone; Masetti, Riccardo; Locatelli, Franco; te Kronnie, Geertruy; Basso, Giuseppe; Bortoluzzi, Stefania; Bresolin, Silvia Journal: Human mutation Issue: Volume 39:Issue 4(2018) Page Start: 579 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Somatic mutations in specific and connected subpathways are associated with short neuroblastoma patients' survival and indicate proteins targetable at onset of disease. Issue 10 (17th September 2018) Authors: Esposito, Maria Rosaria; Binatti, Andrea; Pantile, Marcella; Coppe, Alessandro; Mazzocco, Katia; Longo, Luca; Capasso, Mario; Lasorsa, Vito Alessandro; Luksch, Roberto; Bortoluzzi, Stefania; Tonini, Gian Paolo Journal: International journal of cancer Issue: Volume 143:Issue 10(2018) Page Start: 2525 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗