1. Aberrant HRAS transcript processing underlies a distinctive phenotype within the RASopathy clinical spectrum. Issue 7 (3rd May 2017) Authors: Pantaleoni, Francesca; Lev, Dorit; Cirstea, Ion C.; Motta, Marialetizia; Lepri, Francesca Romana; Bottero, Lisabianca; Cecchetti, Serena; Linger, Ilan; Paolacci, Stefano; Flex, Elisabetta; Novelli, Antonio; Carè, Alessandra; Ahmadian, Mohammad R.; Stellacci, Emilia; Tartaglia, Marco Journal: Human mutation Issue: Volume 38:Issue 7(2017) Page Start: 798 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. 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) ↗
3. Bone tissue homeostasis and risk of fractures in Costello syndrome: A 4‐year follow‐up study. Issue 2 (15th December 2021) Authors: Leoni, Chiara; Bisanti, Cristian; Viscogliosi, Germana; Onesimo, Roberta; Massese, Miriam; Giorgio, Valentina; Corbo, Fabio; Acampora, Anna; Cipolla, Clelia; Flex, Elisabetta; Dell'Atti, Claudia; Rigante, Donato; Tartaglia, Marco; Zampino, Giuseppe Journal: American journal of medical genetics Issue: Volume 188:Issue 2(2022) Page Start: 422 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Characterization of bone homeostasis in individuals affected by cardio‐facio‐cutaneous syndrome. Issue 2 (2nd December 2021) Authors: Leoni, Chiara; Viscogliosi, Germana; Onesimo, Roberta; Bisanti, Cristian; Massese, Miriam; Giorgio, Valentina; Corbo, Fabio; Tedesco, Marta; Acampora, Anna; Cipolla, Clelia; Dell'Atti, Claudia; Flex, Elisabetta; Gervasoni, Jacopo; Primiano, Aniello; Rigante, Donato; Tartaglia, Marco; Zampino, Giu... Journal: American journal of medical genetics Issue: Volume 188:Issue 2(2022) Page Start: 414 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. Dominantly acting KIF5B variants with pleiotropic cellular consequences cause variable clinical phenotypes. Issue 3 (26th August 2022) Authors: Flex, Elisabetta; Albadri, Shahad; Radio, Francesca Clementina; Cecchetti, Serena; Lauri, Antonella; Priolo, Manuela; Kissopoulos, Marta; Carpentieri, Giovanna; Fasano, Giulia; Venditti, Martina; Magliocca, Valentina; Bellacchio, Emanuele; Welch, Carrie L; Colombo, Paolo C; Kochav, Stephanie M; C... Journal: Human molecular genetics Issue: Volume 32:Issue 3(2023) Page Start: 473 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Hyperactive HRAS dysregulates energetic metabolism in fibroblasts from patients with Costello syndrome via enhanced production of reactive oxidizing species. Issue 4 (11th September 2021) Authors: Carpentieri, Giovanna; Leoni, Chiara; Pietraforte, Donatella; Cecchetti, Serena; Iorio, Egidio; Belardo, Antonio; Pietrucci, Daniele; Di Nottia, Michela; Pajalunga, Deborah; Megiorni, Francesca; Mercurio, Laura; Tatti, Massimo; Camero, Simona; Marchese, Cinzia; Rizza, Teresa; Tirelli, Valentina; ... Journal: Human molecular genetics Issue: Volume 31:Issue 4(2022) Page Start: 561 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome. Issue 8 (17th May 2013) Authors: Flex, Elisabetta; Ciolfi, Andrea; Caputo, Viviana; Fodale, Valentina; Leoni, Chiara; Melis, Daniela; Bedeschi, Maria Francesca; Mazzanti, Laura; Pizzuti, Antonio; Tartaglia, Marco; Zampino, Giuseppe Journal: Journal of medical genetics Issue: Volume 50:Issue 8(2013) Page Start: 493 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. 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) ↗