1. Confirmation of a new phenotype in an individual with a variant in the last part of exon 30 of CREBBP. Issue 4 (8th February 2019) Authors: Angius, Andrea; Uva, Paolo; Oppo, Manuela; Persico, Ivana; Onano, Stefano; Olla, Stefania; Pes, Valentina; Perria, Chiara; Cuccuru, Gianmauro; Atzeni, Rossano; Serra, Gigliola; Cucca, Francesco; Sotgiu, Stefano; Hennekam, Raoul C.; Crisponi, Laura Journal: American journal of medical genetics Issue: Volume 179:Issue 4(2019) Page Start: 634 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Exome sequencing in Crisponi/cold‐induced sweating syndrome–like individuals reveals unpredicted alternative diagnoses. Issue 5 (28th March 2019) Authors: Angius, Andrea; Uva, Paolo; Oppo, Manuela; Buers, Insa; Persico, Ivana; Onano, Stefano; Cuccuru, Gianmauro; Van Allen, Margot I.; Hulait, Gurdip; Aubertin, Gudrun; Muntoni, Francesco; Fry, Andrew E.; Annerén, Göran; Stattin, Eva‐Lena; Palomares‐Bralo, María; Santos‐Simarro, Fernando; Cucca, Franc... Journal: Clinical genetics Issue: Volume 95:Issue 5(2019) Page Start: 607 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗