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 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) ↗
3. 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) ↗
4. 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) ↗
5. 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) ↗
6. 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) ↗
7. Bi‐allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease. Issue 6 (11th May 2021) Authors: Cappuccio, Gerarda; Ceccatelli Berti, Camilla; Baruffini, Enrico; Sullivan, Jennifer; Shashi, Vandana; Jewett, Tamison; Stamper, Tara; Maitz, Silvia; Canonico, Francesco; Revah‐Politi, Anya; Kupchik, Gabriel S.; Anyane‐Yeboa, Kwame; Aggarwal, Vimla; Benneche, Andreas; Bratland, Eirik; Berland, Si... Journal: Human mutation Issue: Volume 42:Issue 6(2021) Page Start: 745 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Cantù syndrome: Report of a patient with a novel variant in KCNJ8 and revision of literature. Issue 6 (3rd March 2022) Authors: Apuril Velgara, Erika Solansh; Mariani, Milena; Torella, Annalaura; Musacchia, Francesco; Nigro, Vincenzo; Selicorni, Angelo Journal: American journal of medical genetics Issue: Volume 188:Issue 6(2022) Page Start: 1661 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Cavitating and tigroid‐like leukoencephalopathy in a case of NDUFA2‐related disorder. Issue 1 (6th February 2020) Authors: Alagia, Marianna; Cappuccio, Gerarda; Torella, Annalaura; D'Amico, Alessandra; Mazio, Federica; Romano, Alfonso; Fecarotta, Simona; Casari, Giorgio; Nigro, Vincenzo; Brunetti‐Pierri, Nicola Journal: JIMD reports Issue: Volume 52:Issue 1(2020) Page Start: 11 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Congenital posterior cervical spine malformation due to biallelic c.240‐4T>G RIPPLY2 variant: A discrete entity. Issue 6 (25th March 2020) Authors: Serey‐Gaut, Margaux; Scala, Marcello; Reversade, Bruno; Ruaud, Lyse; Cabrol, Christelle; Musacchia, Francesco; Torella, Annalaura; Accogli, Andrea; Escande‐Beillard, Nathalie; Langlais, Jean; Piatelli, Gianluca; Consales, Alessandro; Nigro, Vincenzo; Capra, Valeria; Van Maldergem, Lionel Journal: American journal of medical genetics Issue: Volume 182:Issue 6(2020) Page Start: 1466 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗