1. A PTPN11 allele encoding a catalytically impaired SHP2 protein in a patient with a Noonan syndrome phenotype. Issue 9 (28th May 2014) Authors: Edwards, Jonathan J.; Martinelli, Simone; Pannone, Luca; Lo, Ivan Fai‐Man; Shi, Lisong; Edelmann, Lisa; Tartaglia, Marco; Luk, Ho‐Ming; Gelb, Bruce D. Journal: American journal of medical genetics Issue: Volume 164:Issue 9(2014.) Page Start: 2351 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Biallelic mutations in the TOGARAM1 gene cause a novel primary ciliopathy. Issue 8 (3rd August 2020) Authors: Morbidoni, Valeria; Agolini, Emanuele; Slep, Kevin C; Pannone, Luca; Zuccarello, Daniela; Cassina, Matteo; Grosso, Enrico; Gai, Giorgia; Salviati, Leonardo; Dallapiccola, Bruno; Novelli, Antonio; Martinelli, Simone; Trevisson, Eva Journal: Journal of medical genetics Issue: Volume 58:Issue 8(2021) Page Start: 526 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Clinical variability of neurofibromatosis 1: A modifying role of cooccurring PTPN11 variants and atypical brain MRI findings. Issue 5 (17th August 2021) Authors: D'Amico, Alessandra; Rosano, Carmen; Pannone, Luca; Pinna, Valentina; Assunto, Antonia; Motta, Marialetizia; Ugga, Lorenzo; Daniele, Paola; Mandile, Roberta; Mariniello, Lucio; Siano, Maria Anna; Santoro, Claudia; Piluso, Giulio; Martinelli, Simone; Strisciuglio, Pietro; De Luca, Alessandro; Tart... Journal: Clinical genetics Issue: Volume 100:Issue 5(2021) Page Start: 563 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Co-occurring WARS2 and CHRNA6 mutations in a child with a severe form of infantile parkinsonism. (March 2020) Authors: Martinelli, Simone; Cordeddu, Viviana; Galosi, Serena; Lanzo, Ambra; Palma, Eleonora; Pannone, Luca; Ciolfi, Andrea; Di Nottia, Michela; Rizza, Teresa; Bocchinfuso, Gianfranco; Traversa, Alice; Caputo, Viviana; Farrotti, Andrea; Carducci, Claudia; Bernardini, Laura; Cogo, Susanna; Paglione, Maria... Journal: Parkinsonism & related disorders Issue: Volume 72(2020) Page Start: 75 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Compound heterozygosity for PTPN11 variants in a subject with Noonan syndrome provides insights into the mechanism of SHP2‐related disorders. Issue 3 (4th January 2021) Authors: Lorca, Rebeca; Pannone, Luca; Cuesta‐Llavona, Elías; Bocchinfuso, Gianfranco; Rodríguez‐Reguero, Julian; Carpentieri, Giovanna; Hernando, Inés; Flex, Elisabetta; Tartaglia, Marco; Coto, Eliecer; Gómez, Juan; Martinelli, Simone Journal: Clinical genetics Issue: Volume 99:Issue 3(2021) Page Start: 457 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Cover Image, Volume 38, Issue 4. Issue 4 (April 2017) Authors: Pannone, Luca; Bocchinfuso, Gianfranco; Flex, Elisabetta; Rossi, Cesare; Baldassarre, Giuseppina; Lissewski, Christina; Pantaleoni, Francesca; Consoli, Federica; Lepri, Francesca; Magliozzi, Monia; Anselmi, Massimiliano; Delle Vigne, Silvia; Sorge, Giovanni; Karaer, Kadri; Cuturilo, Goran; Sartor... Journal: Human mutation Issue: Volume 38:Issue 4(2017) Page Start: i Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Molecular Diversity and Associated Phenotypic Spectrum of Germline CBL Mutations. Issue 8 (1st June 2015) Authors: Martinelli, Simone; Stellacci, Emilia; Pannone, Luca; D'Agostino, Daniela; Consoli, Federica; Lissewski, Christina; Silvano, Marianna; Cencelli, Giulia; Lepri, Francesca; Maitz, Silvia; Pauli, Silke; Rauch, Anita; Zampino, Giuseppe; Selicorni, Angelo; Melançon, Serge; Digilio, Maria C.; Gelb, Bru... Journal: Human mutation Issue: Volume 36:Issue 8(2015:Aug.) Page Start: 787 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Pathogenic PTPN11 variants involving the poly‐glutamine Gln255‐Gln256‐Gln257 stretch highlight the relevance of helix B in SHP2's functional regulation. Issue 6 (11th March 2020) Authors: Martinelli, Simone; Pannone, Luca; Lissewski, Christina; Brinkmann, Julia; Flex, Elisabetta; Schanze, Denny; Calligari, Paolo; Anselmi, Massimiliano; Pantaleoni, Francesca; Canale, Viviana Claudia; Radio, Francesca Clementina; Ioannides, Adonis; Rahner, Nils; Schanze, Ina; Josifova, Dragana; Bocc... Journal: Human mutation Issue: Volume 41:Issue 6(2020) Page Start: 1171 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. SHP2's gain‐of‐function in Werner syndrome causes childhood disease onset likely resulting from negative genetic interaction. Issue 1 (17th April 2022) Authors: Priolo, Manuela; Palermo, Valentina; Aiello, Francesca; Ciolfi, Andrea; Pannone, Luca; Muto, Valentina; Motta, Marialetizia; Mancini, Cecilia; Radio, Francesca Clementina; Niceta, Marcello; Leoni, Chiara; Pintomalli, Letizia; Carrozzo, Rosalba; Rajola, Giuseppe; Mammì, Corrado; Zampino, Giuseppe;... Journal: Clinical genetics Issue: Volume 102:Issue 1(2022) Page Start: 12 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan Syndrome. Issue 4 (7th February 2017) Authors: Pannone, Luca; Bocchinfuso, Gianfranco; Flex, Elisabetta; Rossi, Cesare; Baldassarre, Giuseppina; Lissewski, Christina; Pantaleoni, Francesca; Consoli, Federica; Lepri, Francesca; Magliozzi, Monia; Anselmi, Massimiliano; Delle Vigne, Silvia; Sorge, Giovanni; Karaer, Kadri; Cuturilo, Goran; Sartor... Journal: Human mutation Issue: Volume 38:Issue 4(2017) Page Start: 451 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗