1. A 20‐year long term experience of the Italian Diamond‐Blackfan Anaemia Registry: RPS and RPL genes, different faces of the same disease?. (21st February 2020) Authors: Quarello, Paola; Garelli, Emanuela; Carando, Adriana; Cillario, Rebecca; Brusco, Alfredo; Giorgio, Elisa; Ferrante, Daniela; Corti, Paola; Zecca, Marco; Luciani, Matteo; Pierri, Filomena; Putti, Maria C.; Cantarini, Maria E.; Farruggia, Piero; Barone, Angelica; Cesaro, Simone; Russo, Giovanna; Fa... Journal: British journal of haematology Issue: Volume 190:Number 1(2020) Page Start: 93 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. 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) ↗
3. A high‐content drug screening strategy to identify protein level modulators for genetic diseases: A proof‐of‐principle in autosomal dominant leukodystrophy. Issue 1 (8th December 2020) Authors: Giorgio, Elisa; Pesce, Emanuela; Pozzi, Elisa; Sondo, Elvira; Ferrero, Marta; Morerio, Cristina; Borrelli, Giusy; Della Sala, Edoardo; Lorenzati, Martina; Cortelli, Pietro; Buffo, Annalisa; Pedemonte, Nicoletta; Brusco, Alfredo Journal: Human mutation Issue: Volume 42:Issue 1(2021) Page Start: 102 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. A New Case of 13q12.2q13.1 Microdeletion Syndrome Contributes to Phenotype Delineation. (23rd November 2014) Authors: Mandrile, Giorgia; Di Gregorio, Eleonora; Calcia, Alessandro; Brussino, Alessandro; Grosso, Enrico; Savin, Elisa; Giachino, Daniela Francesca; Brusco, Alfredo Other Names: Rajcan-Separovic Evica Academic Editor. Journal: Case reports in genetics Issue: Volume 2014(2014) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. 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) ↗
6. A novel case of congenital spinocerebellar ataxia 5: further support for a specific phenotype associated with the p.(Arg480Trp) variant in SPTBN2. Issue 12 (13th December 2020) Authors: Zonta, Andrea; Brussino, Alessandro; Dentelli, Patrizia; Brusco, Alfredo Journal: BMJ case reports Issue: Volume 13:Issue 12(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. A novel case of Greenberg dysplasia and genotype–phenotype correlation analysis for LBR pathogenic variants: An instructive example of one gene‐multiple phenotypes. Issue 2 (18th December 2018) Authors: Giorgio, Elisa; Sirchia, Fabio; Bosco, Martino; Sobreira, Nara Lygia M.; Grosso, Enrico; Brussino, Alessandro; Brusco, Alfredo Journal: American journal of medical genetics Issue: Volume 179:Issue 2(2019) Page Start: 306 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. 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) ↗
9. A syndromic extreme insulin resistance caused by biallelic POC1A mutations in exon 10. Issue 5 (November 2017) Authors: Giorgio, Elisa; Rubino, Elisa; Bruselles, Alessandro; Pizzi, Simone; Rainero, Innocenzo; Duca, Sergio; Sirchia, Fabio; Pasini, Barbara; Tartaglia, Marco; Brusco, Alfredo Journal: European journal of endocrinology Issue: Volume 177:Issue 5(2017) Page Start: K21 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Analysis of LMNB1 Duplications in Autosomal Dominant Leukodystrophy Provides Insights into Duplication Mechanisms and Allele‐Specific Expression. Issue 1 (28th October 2013) Authors: Giorgio, Elisa; Rolyan, Harshvardhan; Kropp, Laura; Chakka, Anish Baswanth; Yatsenko, Svetlana; Gregorio, Eleonora Di; Lacerenza, Daniela; Vaula, Giovanna; Talarico, Flavia; Mandich, Paola; Toro, Camilo; Pierre, Eleonore Eymard; Labauge, Pierre; Capellari, Sabina; Cortelli, Pietro; Vairo, Filippo... Journal: Human mutation Issue: Volume 35:Issue 1(2014:Jan.) Page Start: 149 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗