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. Activating MRAS mutations cause Noonan syndrome associated with hypertrophic cardiomyopathy. (21st May 2019) Authors: Motta, Marialetizia; Sagi-Dain, Lena; Krumbach, Oliver H F; Hahn, Andreas; Peleg, Amir; German, Alina; Lissewski, Christina; Coppola, Simona; Pantaleoni, Francesca; Kocherscheid, Luisa; Altmüller, Franziska; Schanze, Denny; Logeswaran, Thushiha; Chahrokh-Zadeh, Soheyla; Munzig, Anna; Nakhaei-Rad,... Journal: Human molecular genetics Issue: Volume 29:Number 11(2020) Page Start: 1772 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. 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) ↗
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. Broadening the phenotypic spectrum of Beta3GalT6‐associated phenotypes. Issue 10 (23rd June 2021) Authors: Leoni, Chiara; Tedesco, Marta; Radio, Francesca Clementina; Chillemi, Giovanni; Leone, Antonio; Bruselles, Alessandro; Ciolfi, Andrea; Stellacci, Emilia; Pantaleoni, Francesca; Butera, Gianfranco; Rigante, Donato; Onesimo, Roberta; Tartaglia, Marco; Zampino, Giuseppe Journal: American journal of medical genetics Issue: Volume 185:Issue 10(2021) Page Start: 3153 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Clinical and functional characterization of a novel RASopathy‐causing SHOC2 mutation associated with prenatal‐onset hypertrophic cardiomyopathy. Issue 8 (6th May 2019) Authors: Motta, Marialetizia; Giancotti, Antonella; Mastromoro, Gioia; Chandramouli, Balasubramanian; Pinna, Valentina; Pantaleoni, Francesca; Di Giosaffatte, Niccolò; Petrini, Stefania; Mazza, Tommaso; D'Ambrosio, Valentina; Versacci, Paolo; Ventriglia, Flavia; Chillemi, Giovanni; Pizzuti, Antonio; Tarta... Journal: Human mutation Issue: Volume 40:Issue 8(2019) Page Start: 1046 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. 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) ↗
8. 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) ↗
9. Expanding the molecular spectrum of pathogenic SHOC2 variants underlying Mazzanti syndrome. Issue 16 (26th March 2022) Authors: Motta, Marialetizia; Solman, Maja; Bonnard, Adeline A; Kuechler, Alma; Pantaleoni, Francesca; Priolo, Manuela; Chandramouli, Balasubramanian; Coppola, Simona; Pizzi, Simone; Zara, Erika; Ferilli, Marco; Kayserili, Hülya; Onesimo, Roberta; Leoni, Chiara; Brinkmann, Julia; Vial, Yoann; Kamphausen, ... Journal: Human molecular genetics Issue: Volume 31:Issue 16(2022) Page Start: 2766 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. 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) ↗