1. A novel INDEL mutation in the EDA gene resulting in a distinct X‐ linked hypohidrotic ectodermal dysplasia phenotype in an Italian family. (30th September 2014) Authors: Callea, M.; Nieminen, P.; Willoughby, C.E.; Clarich, G.; Yavuz, I.; Vinciguerra, A.; Di Stazio, M.; Giglio, S.; Sani, I.; Maglione, M.; Pensiero, S.; Tadini, G.; Bellacchio, E. Journal: Journal of the European Academy of Dermatology and Venereology Issue: Volume 30:Number 2(2016:Feb.) Page Start: 341 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. De novo T362R mutation in MORC2 causes early onset cerebellar ataxia, axonal polyneuropathy and nocturnal hypoventilation. (June 2017) Authors: Zanni, G.; Nardella, M.; Niceta, M.; Bellacchio, E.; Ciolfi, A.; Di Capua, M.; D'Arrigo, S.; Tartaglia, M.; Bertini, E. Journal: European journal of paediatric neurology Issue: Volume 21(2017)Supplement 1 Page Start: e236 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Early severe pachyonychia congenita subtype PC‐K6a with a novel mutation in the KRT6A gene. (21st July 2016) Authors: Cammarata‐Scalisi, F.; Natsuga, K.; Toyonaga, E.; Nishie, W.; Shimizu, H.; Avendaño, A.; Araque, D.; Da Silva, G.; Bellacchio, E.; Callea, M. Journal: Journal of the European Academy of Dermatology and Venereology Issue: Volume 31:Number 2(2017) Page Start: e94 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Expanding the clinical and molecular spectrum of PRMT7 mutations: 3 additional patients and review. Issue 3 (5th February 2018) Authors: Agolini, E.; Dentici, M.L.; Bellacchio, E.; Alesi, V.; Radio, F.C.; Torella, A.; Musacchia, F.; Tartaglia, M.; Dallapiccola, B.; Nigro, V.; Digilio, M.C.; Novelli, A. Journal: Clinical genetics Issue: Volume 93:Issue 3(2018) Page Start: 675 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Expanding the histopathological spectrum of CFL2‐related myopathies. Issue 6 (25th March 2018) Authors: Fattori, F.; Fiorillo, C.; Rodolico, C.; Tasca, G.; Verardo, M.; Bellacchio, E.; Pizzi, S.; Ciolfi, A.; Fagiolari, G.; Lupica, A.; Broda, P.; Pedemonte, M.; Moggio, M.; Bruno, C.; Tartaglia, M.; Bertini, E.; D'Amico, A. Journal: Clinical genetics Issue: Volume 93:Issue 6(2018) Page Start: 1234 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Identification of a novel frameshift mutation in the EDAR gene causing autosomal dominant hypohidrotic ectodermal dysplasia. (18th March 2014) Authors: Callea, M.; Willoughby, C.E.; Nieminen, P.; Di Stazio, M.; Bellacchio, E.; Giglio, S.; Sani, I.; Vinciguerra, A.; Maglione, M.; Tadini, G.; Clarich, G. Journal: Journal of the European Academy of Dermatology and Venereology Issue: Volume 29:Number 5(2015:May) Page Start: 1032 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Intrafamiliar clinical variability of circumferential skin creases Kunze type caused by a novel heterozygous mutation of N‐terminal TUBB gene. Issue 6 (11th April 2018) Authors: Dentici, M.L.; Terracciano, A.; Bellacchio, E.; Capolino, R.; Novelli, A.; Digilio, M.C.; Dallapiccola, B. Journal: Clinical genetics Issue: Volume 93:Issue 6(2018) Page Start: 1223 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Novel mutations in KARS cause hypertrophic cardiomyopathy and combined mitochondrial respiratory chain defect. Issue 6 (17th March 2017) Authors: Verrigni, D.; Diodato, D.; Di Nottia, M.; Torraco, A.; Bellacchio, E.; Rizza, T.; Tozzi, G.; Verardo, M.; Piemonte, F.; Tasca, G.; D'Amico, A.; Bertini, E.; Carrozzo, R. Journal: Clinical genetics Issue: Volume 91:Issue 6(2017) Page Start: 918 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. The role of variant rs17618244 of KLB gene in MAFLD-related fibrosis. (March 2021) Authors: Panera, N.; Meroni, M.; Longo, M.; Crudele, A.; Valenti, L.; Bellacchio, E.; Miele, L.; D'Oria, V.; Paolini, E.; Maggioni, M.; Fracanzani, A.L.; Alisi, A.; Dongiovanni, P. Journal: Digestive and liver disease Issue: Volume 53:(2021)Supplement 1 Page Start: S25 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. The Vici syndrome protein EPG5 regulates intracellular nucleic acid trafficking linking autophagy to innate and adaptive immunity. Issue 1 (2nd January 2018) Authors: Piano Mortari, E.; Folgiero, V.; Marcellini, V.; Romania, P.; Bellacchio, E.; D'Alicandro, V.; Bocci, C.; Carrozzo, R.; Martinelli, D.; Petrini, S.; Axiotis, E.; Farroni, C.; Locatelli, F.; Schara, U.; Pilz, D.T.; Jungbluth, H.; Dionisi-Vici, C.; Carsetti, R. Journal: Autophagy Issue: Volume 14:Issue 1(2018) Page Start: 22 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗