1. "CHARGE‐like presentation, craniosynostosis and mild Mowat–Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases" American Journal of Medical Genetics Part A. 164:2557‐2566, 2014. (5th May 2015) Authors: Wenger, Tara L.; Harr, Margaret; Ricciardi, Stefania; Bhoj, Elizabeth; Santani, Avni; Adam, Margaret P.; Barnett, Sarah S.; Ganetzky, Rebecca; McDonald‐McGinn, Donna M.; Battaglia, Domenica; Bigoni, Stefania; Selicorni, Angelo; Sorge, Giovanni; Monica, Matteo Della; Mari, Francesca; Andreucci, El... Journal: American journal of medical genetics Issue: Volume 167:Number 7(2015:Jul.) Page Start: 1682 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. "Gestalt diagnosis" for children with suspected genetic syndromes. (December 2015) Authors: Cianci, Paola; Selicorni, Angelo Journal: Italian journal of pediatrics Issue: Volume 41(2015)Supplement 2 Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A boy with Burkitt lymphoma associated with Noonan syndrome due to a mutation in RAF1. Issue 6 (23rd April 2013) Authors: Cianci, Paola; Tono, Valentina; Sala, Alessandra; Locatelli, Laura; Carta, Claudio; Rizzari, Carmelo; Biondi, Andrea; Selicorni, Angelo Journal: American journal of medical genetics Issue: Volume 161:Issue 6(2013:Jun.) Page Start: 1401 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. A missense mutation in DDRGK1 gene associated to Shohat‐type spondyloepimetaphyseal dysplasia: Two case reports and a review of literature. Issue 8 (7th June 2022) Authors: Franceschi, Roberto; Iascone, Maria; Maitz, Silvia; Marchetti, Daniela; Mariani, Milena; Selicorni, Angelo; Soffiati, Massimo; Maines, Evelina Journal: American journal of medical genetics Issue: Volume 188:Issue 8(2022) Page Start: 2434 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. A new prognostic index of severity of intellectual disabilities in Cornelia de Lange syndrome. Issue 2 (5th May 2016) Authors: Cereda, Anna; Mariani, Milena; Rebora, Paola; Sajeva, Anna; Ajmone, Paola Francesca; Gervasini, Cristina; Russo, Silvia; Kullmann, Gaia; Valsecchi, Grazia; Selicorni, Angelo Other Names: Noon Sarah E. guestEditor.; Deardorff Matthew A. guestEditor.; Krantz Ian D. guestEditor. Journal: American journal of medical genetics Issue: Volume 172:Issue 2(2016) Page Start: 179 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. A novel HIST1HE pathogenic variant in a girl with macrocephaly and intellectual disability: a new case and review of literature. Issue 1 (January 2021) Authors: Pelle, Alessandra; Pezzoli, Laura; Apuril, Erika; Iascone, Maria; Selicorni, Angelo Journal: Clinical dysmorphology Issue: Volume 30:Issue 1(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. A novel mosaic NSD1 intragenic deletion in a patient with an atypical phenotype12. Issue 3 (22nd January 2013) Authors: Castronovo, Chiara; Rusconi, Daniela; Crippa, Milena; Giardino, Daniela; Gervasini, Cristina; Milani, Donatella; Cereda, Anna; Larizza, Lidia; Selicorni, Angelo; Finelli, Palma Journal: American journal of medical genetics Issue: Volume 161:Issue 3(2013:Mar.) Page Start: 611 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Acute myeloid leukemia in Baraitser–Winter cerebrofrontofacial syndrome. Issue 2 (21st November 2016) Authors: Cianci, Paola; Fazio, Grazia; Casagranda, Sara; Spinelli, Marco; Rizzari, Carmelo; Cazzaniga, Gianni; Selicorni, Angelo Journal: American journal of medical genetics Issue: Volume 173:Issue 2(2017) Page Start: 546 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Adolescents and adults affected by Cornelia de Lange syndrome: A report of 73 Italian patients. Issue 2 (10th May 2016) Authors: Mariani, Milena; Decimi, Valentina; Bettini, Laura Rachele; Maitz, Silvia; Gervasini, Cristina; Masciadri, Maura; Ajmone, Paola; Kullman, Gaia; Dinelli, Marco; Panceri, Roberto; Cereda, Anna; Selicorni, Angelo Other Names: Noon Sarah E. guestEditor.; Deardorff Matthew A. guestEditor.; Krantz Ian D. guestEditor. Journal: American journal of medical genetics Issue: Volume 172:Issue 2(2016) Page Start: 206 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Age-related hallmarks of psychopathology in Cornelia de Lange and Rubinstein-Taybi syndromes. (July 2022) Authors: Giani, Ludovica; Michelini, Giovanni; Ajmone, Paola Francesca; Scaini, Simona; Selicorni, Angelo; Vizziello, Paola; Costantino, Antonella Journal: Research in developmental disabilities Issue: Volume 126(2022) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗