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. Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome. Issue 11 (3rd August 2015) Authors: Cordeddu, Viviana; Yin, Jiani C.; Gunnarsson, Cecilia; Virtanen, Carl; Drunat, Séverine; Lepri, Francesca; De Luca, Alessandro; Rossi, Cesare; Ciolfi, Andrea; Pugh, Trevor J.; Bruselles, Alessandro; Priest, James R.; Pennacchio, Len A.; Lu, Zhibin; Danesh, Arnavaz; Quevedo, Rene; Hamid, Alaa; Mar... Journal: Human mutation Issue: Volume 36:Issue 11(2015:Nov.) Page Start: 1080 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. 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) ↗
4. Biallelic SQSTM1 mutations in early-onset, variably progressive neurodegeneration. (24th July 2018) Authors: Muto, Valentina; Flex, Elisabetta; Kupchinsky, Zachary; Primiano, Guido; Galehdari, Hamid; Dehghani, Mohammadreza; Cecchetti, Serena; Carpentieri, Giovanna; Rizza, Teresa; Mazaheri, Neda; Sedaghat, Alireza; Vahidi Mehrjardi, Mohammad Yahya; Traversa, Alice; Di Nottia, Michela; Kousi, Maria M.; Ja... Journal: Neurology Issue: Volume 91:Number 4(2018) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Caenorhabditis elegans provides an efficient drug screening platform for GNAO1-related disorders and highlights the potential role of caffeine in controlling dyskinesia. Issue 6 (8th October 2021) Authors: Di Rocco, Martina; Galosi, Serena; Lanza, Enrico; Tosato, Federica; Caprini, Davide; Folli, Viola; Friedman, Jennifer; Bocchinfuso, Gianfranco; Martire, Alberto; Di Schiavi, Elia; Leuzzi, Vincenzo; Martinelli, Simone Journal: Human molecular genetics Issue: Volume 31:Issue 6(2022) Page Start: 929 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. 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) ↗
7. 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) ↗
8. 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) ↗
9. 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) ↗
10. Functional analysis of TLK2 variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis. Issue 2 (15th December 2020) Authors: Pavinato, Lisa; Villamor-Payà, Marina; Sanchiz-Calvo, Maria; Andreoli, Cristina; Gay, Marina; Vilaseca, Marta; Arauz-Garofalo, Gianluca; Ciolfi, Andrea; Bruselles, Alessandro; Pippucci, Tommaso; Prota, Valentina; Carli, Diana; Giorgio, Elisa; Radio, Francesca Clementina; Antona, Vincenzo; Giuffrè... Journal: Journal of medical genetics Issue: Volume 59:Issue 2(2022) Page Start: 170 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗