1. A non‐hemispheric transtentorial ZFTA fusion‐positive ependymoma in a 6‐month‐old boy. Issue 1 (14th February 2023) Authors: Cardoni, Antonello; Barresi, Sabina; Piccirilli, Eleonora; Alesi, Viola; Miele, Evelina; Giovannoni, Isabella; Genovese, Silvia; Del Baldo, Giada; Diomedi‐Camassei, Francesca; Antonelli, Manila; Giangaspero, Felice; Puggioni, Chiara; Carai, Andrea; Colafati, Giovanna Stefania; Mastronuzzi, Angela... Journal: Neuropathology & applied neurobiology Issue: Volume 49:Issue 1(2023) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A novel BRD4‐LEUTX fusion in a pediatric sarcoma with epithelioid morphology and diffuse S100 expression. Issue 9 (8th June 2021) Authors: Barresi, Sabina; Giovannoni, Isabella; Rossi, Sabrina; Stracuzzi, Alessandra; Quacquarini, Denise; Cafferata, Barbara; Piscitelli, Domenico; De Leonardis, Francesco; Marzullo, Andrea; Alaggio, Rita Journal: Genes, chromosomes & cancer Issue: Volume 60:Issue 9(2021) Page Start: 647 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A Novel Mutation in RPL10 (Ribosomal Protein L10) Causes X‐Linked Intellectual Disability, Cerebellar Hypoplasia, and Spondylo‐Epiphyseal Dysplasia. Issue 12 (14th September 2015) Authors: Zanni, Ginevra; Kalscheuer, Vera M.; Friedrich, Andreas; Barresi, Sabina; Alfieri, Paolo; Di Capua, Matteo; Haas, Stefan A.; Piccini, Giorgia; Karl, Thomas; Klauck, Sabine M.; Bellacchio, Emanuele; Emma, Francesco; Cappa, Marco; Bertini, Enrico; Breitenbach‐Koller, Lore Journal: Human mutation Issue: Volume 36:Issue 12(2015:Dec.) Page Start: 1155 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. ALK‐rearranged histiocytosis: Report of two cases with involvement of the central nervous system. (18th June 2021) Authors: Rossi, Sabrina; Gessi, Marco; Barresi, Sabina; Tamburrini, Gianpiero; Giovannoni, Isabella; Ruggiero, Antonio; Colafati, Giovanna Stefania; Frassanito, Paolo; Carboni, Alessia; Alexandre, Andrea; Cacchione, Antonella; Trombatore, Pietro; Diomedi‐Camassei, Francesca; Gaspari, Stefania; Gianno, Fra... Journal: Neuropathology & applied neurobiology Issue: Volume 47:Number 6(2021) Page Start: 878 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. CHK1-targeted therapy to deplete DNA replication-stressed, p53-deficient, hyperdiploid colorectal cancer stem cells. Issue 5 (7th April 2017) Authors: Manic, Gwenola; Signore, Michele; Sistigu, Antonella; Russo, Giorgio; Corradi, Francesca; Siteni, Silvia; Musella, Martina; Vitale, Sara; De Angelis, Maria Laura; Pallocca, Matteo; Amoreo, Carla Azzurra; Sperati, Francesca; Di Franco, Simone; Barresi, Sabina; Policicchio, Eleonora; De Luca, Gabri... Journal: Gut Issue: Volume 67:Issue 5(2018) Page Start: 903 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Clinical spectrum of Kabuki‐like syndrome caused by HNRNPK haploinsufficiency. Issue 2 (25th April 2017) Authors: Dentici, Maria Lisa; Barresi, Sabina; Niceta, Marcello; Pantaleoni, Francesca; Pizzi, Simone; Dallapiccola, Bruno; Tartaglia, Marco; Digilio, Maria Cristina Journal: Clinical genetics Issue: Volume 93:Issue 2(2018) Page Start: 401 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Expanding the clinical spectrum associated with PACS2 mutations. Issue 4 (28th February 2019) Authors: Dentici, Maria L.; Barresi, Sabina; Niceta, Marcello; Ciolfi, Andrea; Trivisano, Marina; Bartuli, Andrea; Digilio, Maria C.; Specchio, Nicola; Dallapiccola, Bruno; Tartaglia, Marco Journal: Clinical genetics Issue: Volume 95:Issue 4(2019) Page Start: 525 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Expanding the phenotypic spectrum of truncating POGZ mutations: Association with CNS malformations, skeletal abnormalities, and distinctive facial dysmorphism. Issue 7 (7th May 2017) Authors: Dentici, Maria Lisa; Niceta, Marcello; Pantaleoni, Francesca; Barresi, Sabina; Bencivenga, Paola; Dallapiccola, Bruno; Digilio, Maria Cristina; Tartaglia, Marco Journal: American journal of medical genetics Issue: Volume 173:Issue 7(2017) Page Start: 1965 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Expanding the spectrum of EWSR1‐PATZ1 rearranged CNS tumors: An infantile case with leptomeningeal dissemination. (15th February 2021) Authors: Rossi, Sabrina; Barresi, Sabina; Giovannoni, Isabella; Alesi, Viola; Ciolfi, Andrea; Colafati, Giovanna Stefania; Diomedi‐Camassei, Francesca; Miele, Evelina; Cacchione, Antonella; Quacquarini, Denise; Carai, Andrea; Tartaglia, Marco; Giannini, Caterina; Giangaspero, Felice; Mastronuzzi, Angela; ... Journal: Brain pathology Issue: Volume 31:Number 3(2021) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Front Cover, Volume 40, Issue 6. Issue 6 (21st May 2019) Authors: Carli, Diana; Giorgio, Elisa; Pantaleoni, Francesca; Bruselles, Alessandro; Barresi, Sabina; Riberi, Evelise; Licciardi, Francesco; Gazzin, Andrea; Baldassarre, Giuseppina; Pizzi, Simone; Niceta, Marcello; Radio, Francesca C.; Molinatto, Cristina; Montin, Davide; Calvo, Pier L.; Ciolfi, Andrea; F... Journal: Human mutation Issue: Volume 40:Issue 6(2019) Page Start: i Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗