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. A monoallelic SEC23A variant E599K associated with cranio‐lenticulo‐sutural dysplasia. Issue 1 (28th September 2021) Authors: Cisarova, Katarina; Garavelli, Livia; Caraffi, Stefano Giuseppe; Peluso, Francesca; Valeri, Lara; Gargano, Giancarlo; Gavioli, Sara; Trimarchi, Gabriele; Neri, Alberto; Campos‐Xavier, Belinda; Superti‐Furga, Andrea Journal: American journal of medical genetics Issue: Volume 188:Issue 1(2022) Page Start: 319 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. ALG8‐CDG: Molecular and phenotypic expansion suggests clinical management guidelines. Issue 5 (30th June 2022) Authors: Albokhari, Daniah; Ng, Bobby G.; Guberinic, Alis; Daniel, Earnest James Paul; Engelhardt, Nicole M.; Barone, Rita; Fiumara, Agata; Garavelli, Livia; Trimarchi, Gabriele; Wolfe, Lynne; Raymond, Kimiyo M.; Morava, Eva; He, Miao; Freeze, Hudson H.; Lam, Christina; Edmondson, Andrew C. Other Names: Bhattacharya Kaustuv guestEditor. Journal: Journal of inherited metabolic disease Issue: Volume 45:Issue 5(2022) Page Start: 969 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. ANKLE2‐related microcephaly: A variable microcephaly syndrome resembling Zika infection. Issue 8 (24th July 2022) Authors: Thomas, Ajay X.; Link, Nichole; Robak, Laurie A.; Demmler‐Harrison, Gail; Pao, Emily C.; Squire, Audrey E.; Michels, Savannah; Cohen, Julie S.; Comi, Anne; Prontera, Paolo; Verrotti di Pianella, Alberto; Di Cara, Giuseppe; Garavelli, Livia; Caraffi, Stefano Giuseppe; Fusco, Carlo; Zuntini, Robert... Journal: Annals of clinical and translational neurology Issue: Volume 9:Issue 8(2022) Page Start: 1276 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. CHARGE‐like presentation, craniosynostosis and mild Mowat–Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases. Issue 10 (14th August 2014) 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 164:Issue 10(2014.) Page Start: 2557 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. CHARGE‐like presentation, craniosynostosis and mild Mowat–Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases. Issue 10 (14th August 2014) 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 164:Issue 10(2014.) Page Start: 2557 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Cognitive-behavioural phenotype in a group of girls from 1.2 to 12 years old with the Incontinentia Pigmenti syndrome: Recommendations for clinical management. Issue 4 (2nd October 2017) Authors: Pizzamiglio, Maria Rosa; Piccardi, Laura; Bianchini, Filippo; Canzano, Loredana; Palermo, Liana; Fusco, Francesca; D'Antuono, Giovanni; Gelmini, Chiara; Garavelli, Livia; Ursini, Matilde Valeria Journal: Applied neuropsychology Issue: Volume 6:Issue 4(2017) Page Start: 327 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Complex cranio-vertebral malformation: disruption sequence or iniencephaly?. Issue 3 (July 2018) Authors: Pollazzon, Marzia; Rosato, Simonetta; Ivanovski, Ivan; Gelmini, Chiara; Bertani, Gianna; Pascarella, Rosario; Napoli, Manuela; Garavelli, Livia; Unger, Sheila; Superti-Furga, Andrea Journal: Clinical dysmorphology Issue: Volume 27:Issue 3(2018:Jul.) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Cornelia de Lange individuals with new and recurrent SMC1A mutations enhance delineation of mutation repertoire and phenotypic spectrum. Issue 11 (2nd October 2013) Authors: Gervasini, Cristina; Russo, Silvia; Cereda, Anna; Parenti, Ilaria; Masciadri, Maura; Azzollini, Jacopo; Melis, Daniela; Aravena, Teresa; Doray, Bérénice; Ferrarini, Alessandra; Garavelli, Livia; Selicorni, Angelo; Larizza, Lidia Journal: American journal of medical genetics Issue: Volume 161:Issue 11(2013:Nov.) Page Start: 2909 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Correspondence on "Disorder of sex development associated with a novel homozygous nonsense mutation in COG6 expands the phenotypic spectrum of COG6‐CDG". Issue 1 (25th September 2021) Authors: Lugli, Licia; Pollazzon, Marzia; Bigoni, Stefania; Caraffi, Stefano Giuseppe; Ferlini, Alessandra; Ferri, Lorenzo; Morrone, Amelia; Calabrese, Olga; Iughetti, Lorenzo; Garavelli, Livia; Berardi, Alberto Journal: American journal of medical genetics Issue: Volume 188:Issue 1(2022) Page Start: 382 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗