1. A de novo X;8 translocation creates a PTK2-THOC2 gene fusion with THOC2 expression knockdown in a patient with psychomotor retardation and congenital cerebellar hypoplasia. Issue 8 (7th June 2013) Authors: Di Gregorio, Eleonora; Bianchi, Federico T; Schiavi, Alfonso; Chiotto, Alessandra M A; Rolando, Marco; Verdun di Cantogno, Ludovica; Grosso, Enrico; Cavalieri, Simona; Calcia, Alessandro; Lacerenza, Daniela; Zuffardi, Orsetta; Retta, Saverio Francesco; Stevanin, Giovanni; Marelli, Cecilia; Durr, ... Journal: Journal of medical genetics Issue: Volume 50:Issue 8(2013) Page Start: 543 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A novel 3q29 deletion associated with autism, intellectual disability, psychiatric disorders, and obesity. Issue 2 (1st December 2015) Authors: Biamino, Elisa; Di Gregorio, Eleonora; Belligni, Elga Fabia; Keller, Roberto; Riberi, Evelise; Gandione, Marina; Calcia, Alessandro; Mancini, Cecilia; Giorgio, Elisa; Cavalieri, Simona; Pappi, Patrizia; Talarico, Flavia; Fea, Antonio M.; De Rubeis, Silvia; Cirillo Silengo, Margherita; Ferrero, Gi... Journal: American journal of medical genetics Issue: Volume 171:Issue 2(2016) Page Start: 290 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A novel homozygous change of CLCN2 (p.His590Pro) is associated with a subclinical form of leukoencephalopathy with ataxia (LKPAT). Issue 10 (4th May 2017) Authors: Giorgio, Elisa; Vaula, Giovanna; Benna, Paolo; Lo Buono, Nicola; Eandi, Chiara Maria; Dino, Daniele; Mancini, Cecilia; Cavalieri, Simona; Di Gregorio, Eleonora; Pozzi, Elisa; Ferrero, Marta; Giordana, Maria Teresa; Depienne, Christel; Brusco, Alfredo Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 88:Issue 10(2017) Page Start: 894 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Cover Image, Volume 170A, Number 7, July 2016. Issue 7 (17th June 2016) Authors: Giorgio, Elisa; Ciolfi, Andrea; Biamino, Elisa; Caputo, Viviana; Di Gregorio, Eleonora; Belligni, Elga Fabia; Calcia, Alessandro; Gaidolfi, Elena; Bruselles, Alessandro; Mancini, Cecilia; Cavalieri, Simona; Molinatto, Cristina; Cirillo Silengo, Margherita; Ferrero, Giovanni Battista; Tartaglia, M... Journal: American journal of medical genetics Issue: Volume 170:Issue 7(2016) Page Start: i Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes. (May 2017) Authors: Giorgio, Elisa; Brussino, Alessandro; Biamino, Elisa; Belligni, Elga Fabia; Bruselles, Alessandro; Ciolfi, Andrea; Caputo, Viviana; Pizzi, Simone; Calcia, Alessandro; Di Gregorio, Eleonora; Cavalieri, Simona; Mancini, Cecilia; Pozzi, Elisa; Ferrero, Marta; Riberi, Evelise; Borelli, Iolanda; Amoro... Journal: European journal of paediatric neurology Issue: Volume 21:Number 3(2017:May) Page Start: 475 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof‐of‐concept examples. Issue 7 (25th April 2016) Authors: Giorgio, Elisa; Ciolfi, Andrea; Biamino, Elisa; Caputo, Viviana; Di Gregorio, Eleonora; Belligni, Elga Fabia; Calcia, Alessandro; Gaidolfi, Elena; Bruselles, Alessandro; Mancini, Cecilia; Cavalieri, Simona; Molinatto, Cristina; Cirillo Silengo, Margherita; Ferrero, Giovanni Battista; Tartaglia, M... Journal: American journal of medical genetics Issue: Volume 170:Issue 7(2016) Page Start: 1772 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗