1. A child with Myhre syndrome presenting with corectopia and tetralogy of Fallot. Issue 2 (12th December 2017) Authors: Alagia, Marianna; Cappuccio, Gerarda; Pinelli, Michele; Torella, Annalaura; Brunetti‐Pierri, Raffaella; Simonelli, Francesca; Limongelli, Giuseppe; Oppido, Guido; Nigro, Vincenzo; Brunetti‐Pierri, Nicola Journal: American journal of medical genetics Issue: Volume 176:Issue 2(2018) Page Start: 426 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G). (18th March 2014) Authors: Vieira, Natássia M.; Naslavsky, Michel S.; Licinio, Luciana; Kok, Fernando; Schlesinger, David; Vainzof, Mariz; Sanchez, Nury; Kitajima, João Paulo; Gal, Lihi; Cavaçana, Natale; Serafini, Peter R.; Chuartzman, Silvia; Vasquez, Cristina; Mimbacas, Adriana; Nigro, Vincenzo; Pavanello, Rita C.; Schu... Journal: Human molecular genetics Issue: Volume 23:Number 15(2014:Aug. 01) Page Start: 4103 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A new family with transportinopathy: increased clinical heterogeneity. (June 2019) Authors: Angelini, Corrado; Marozzo, Roberta; Pinzan, Elena; Pegoraro, Valentina; Molnar, Maria Judit; Torella, Annalaura; Nigro, Vincenzo Journal: Therapeutic advances in neurological disorders Issue: Volume 12(2019) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. A Rare Case of Severe Congenital RYR1-Associated Myopathy. (1st August 2018) Authors: Laforgia, Nicola; Capozza, Manuela; De Cosmo, Lucrezia; Di Mauro, Antonio; Baldassarre, Maria Elisabetta; Mercadante, Francesca; Torella, Anna Laura; Nigro, Vincenzo; Resta, Nicoletta Other Names: Mittal Balraj Academic Editor. Journal: Case reports in genetics Issue: Volume 2018(2018) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organs. (12th June 2020) Authors: Bedoni, Nicola; Quinodoz, Mathieu; Pinelli, Michele; Cappuccio, Gerarda; Torella, Annalaura; Nigro, Vincenzo; Testa, Francesco; Simonelli, Francesca; Corton, Marta; Lualdi, Susanna; Lanza, Federica; Morana, Giovanni; Ayuso, Carmen; Di Rocco, Maja; Filocamo, Mirella; Banfi, Sandro; Brunetti-Pierri... Journal: Human molecular genetics Issue: Volume 29:Number 13(2020) Page Start: 2250 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. An extremely severe phenotype attributed to WDR81 nonsense mutations. Issue 4 (23rd October 2017) Authors: Cappuccio, Gerarda; Pinelli, Michele; Torella, Annalaura; Vitiello, Giuseppina; D'Amico, Alessandra; Alagia, Marianna; Del Giudice, Ennio; Nigro, Vincenzo; Brunetti‐Pierri, Nicola Journal: Annals of neurology Issue: Volume 82:Issue 4(2017) Page Start: 650 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. AP1S2‐truncating variant in a patient with severe neurodevelopmental disorder and cerebral folate deficiency. (27th November 2018) Authors: Cappuccio, Gerarda; Torella, Annalaura; Mastrangelo, Mario; Carducci, Claudia; Nigro, Vincenzo; Brunetti‐Pierri, Nicola; Leuzzi, Vincenzo Journal: Acta pædiatrica Issue: Volume 108:Number 3(2019) Page Start: 564 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Are SHROOM4 loss‐of‐function variants pathogenic?. Issue 11 (16th August 2022) Authors: Peduto, Cristina; Piluso, Giulio; Nigro, Vincenzo; Brunetti‐Pierri, Nicola Journal: American journal of medical genetics Issue: Volume 188:Issue 11(2022) Page Start: 3374 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Assessment of de novo copy-number variations in Italian patients with schizophrenia: Detection of putative mutations involving regulatory enhancer elements. (7th February 2019) Authors: Piluso, Giulio; Monteleone, Palmiero; Galderisi, Silvana; Giugliano, Teresa; Bertolino, Alessandro; Rocca, Paola; Rossi, Alessandro; Mucci, Armida; Aguglia, Eugenio; Andriola, Ileana; Bellomo, Antonello; Comparelli, Anna; Gambi, Francesco; Fagiolini, Andrea; Marchesi, Carlo; Roncone, Rita; Sacche... Journal: World journal of biological psychiatry Issue: Volume 20:Number 2(2019) Page Start: 126 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Biallelic variants in CENPF causing a phenotype distinct from Strømme syndrome. Issue 1 (30th April 2022) Authors: Cappuccio, Gerarda; Brillante, Simona; Tammaro, Roberta; Pinelli, Michele; De Bernardi, Margherita Lucia; Gensini, Maria Grazia; Bijlsma, Emilia K.; Koopmann, Tamara T.; Hoffer, Mariette J. V.; McDonald, Kimberly; Hendon, Laura G.; Douzgou, Sofia; Deshpande, Charulata; D'Arrigo, Stefano; Torella,... Other Names: Franco Brunella guestEditor.; Omran Heymut guestEditor. Journal: American journal of medical genetics Issue: Volume 190:Issue 1(2022) Page Start: 102 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗