1. (Epi)genotype–phenotype correlations in Beckwith–Wiedemann syndrome: a paradigm for genomic medicine. Issue 4 (30th July 2015) Authors: Mussa, A.; Russo, S.; Larizza, L.; Riccio, A.; Ferrero, G.B. Journal: Clinical genetics Issue: Volume 89:Issue 4(2016) Page Start: 403 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange‐overlapping phenotype. Issue 1 (25th February 2015) Authors: Parenti, I.; Gervasini, C.; Pozojevic, J.; Graul‐Neumann, L.; Azzollini, J.; Braunholz, D.; Watrin, E.; Wendt, K.S.; Cereda, A.; Cittaro, D.; Gillessen‐Kaesbach, G.; Lazarevic, D.; Mariani, M.; Russo, S.; Werner, R.; Krawitz, P.; Larizza, L.; Selicorni, A.; Kaiser, F.J. Journal: Clinical genetics Issue: Volume 89:Issue 1(2016) Page Start: 74 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Clinical and molecular characterization of Rubinstein‐Taybi syndrome patients carrying distinct novel mutations of the EP300 gene. (17th February 2014) Authors: Negri, G.; Milani, D.; Colapietro, P.; Forzano, F.; Della Monica, M.; Rusconi, D.; Consonni, L.; Caffi, L. G.; Finelli, P.; Scarano, G.; Magnani, C.; Selicorni, A.; Spena, S.; Larizza, L.; Gervasini, C. Journal: Clinical genetics Issue: Volume 87:Number 2(2015:Feb.) Page Start: 148 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Developmental disorders with intellectual disability driven by chromatin dysregulation: Clinical overlaps and molecular mechanisms. Issue 2 (21st May 2018) Authors: Larizza, L.; Finelli, P. Journal: Clinical genetics Issue: Volume 95:Issue 2(2019) Page Start: 231 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Expanding the clinical spectrum of the 'HDAC8‐phenotype' – implications for molecular diagnostics, counseling and risk prediction. Issue 5 (25th January 2016) Authors: Parenti, I.; Gervasini, C.; Pozojevic, J.; Wendt, K.S.; Watrin, E.; Azzollini, J.; Braunholz, D.; Buiting, K.; Cereda, A.; Engels, H.; Garavelli, L.; Glazar, R.; Graffmann, B.; Larizza, L.; Lüdecke, H.J.; Mariani, M.; Masciadri, M.; Pié, J.; Ramos, F.J.; Russo, S. Journal: Clinical genetics Issue: Volume 89:Issue 5(2016) Page Start: 564 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Fetal growth patterns in Beckwith–Wiedemann syndrome. Issue 1 (15th March 2016) Authors: Mussa, A.; Russo, S.; de Crescenzo, A.; Freschi, A.; Calzari, L.; Maitz, S.; Macchiaiolo, M.; Molinatto, C.; Baldassarre, G.; Mariani, M.; Tarani, L.; Bedeschi, M.F.; Milani, D.; Melis, D.; Bartuli, A.; Cubellis, M.V.; Selicorni, A.; Silengo, M.C.; Larizza, L.; Riccio, A. Journal: Clinical genetics Issue: Volume 90:Issue 1(2016) Page Start: 21 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Insights into genotype–phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein–Taybi syndrome patients. (9th December 2014) Authors: Spena, S.; Milani, D.; Rusconi, D.; Negri, G.; Colapietro, P.; Elcioglu, N.; Bedeschi, F.; Pilotta, A.; Spaccini, L.; Ficcadenti, A.; Magnani, C.; Scarano, G.; Selicorni, A.; Larizza, L.; Gervasini, C. Journal: Clinical genetics Issue: Volume 88:Number 5(2015:Nov.) Page Start: 431 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Recognition of the Cornelia de Lange syndrome phenotype with facial dysmorphology novel analysis. Issue 5 (25th January 2016) Authors: Basel‐Vanagaite, L.; Wolf, L.; Orin, M.; Larizza, L.; Gervasini, C.; Krantz, I.D.; Deardoff, M.A. Journal: Clinical genetics Issue: Volume 89:Issue 5(2016) Page Start: 557 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Suggestive evidence on the involvement of polypyrimidine-tract binding protein in regulating alternative splicing of MAP/microtubule affinity-regulating kinase 4 in glioma. Issue 1 (1st April 2015) Authors: Fontana, L.; Rovina, D.; Novielli, C.; Maffioli, E.; Tedeschi, G.; Magnani, I.; Larizza, L. Journal: Cancer letters Issue: Volume 359:Issue 1(2015) Page Start: 87 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗