1. ALG1‐CDG: Clinical and Molecular Characterization of 39 Unreported Patients. Issue 7 (21st March 2016) Authors: Ng, Bobby G.; Shiryaev, Sergey A.; Rymen, Daisy; Eklund, Erik A.; Raymond, Kimiyo; Kircher, Martin; Abdenur, Jose E.; Alehan, Fusun; Midro, Alina T.; Bamshad, Michael J.; Barone, Rita; Berry, Gerard T.; Brumbaugh, Jane E.; Buckingham, Kati J.; Clarkson, Katie; Cole, F. Sessions; O'Connor, Shawn; ... Journal: Human mutation Issue: Volume 37:Issue 7(2016) Page Start: 653 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. 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) ↗
3. Clinical correlates in children with autism spectrum disorder and CNVs: Systematic investigation in a clinical setting. Issue 4 (25th March 2020) Authors: Barone, Rita; Gulisano, Mariangela; Amore, Renata; Domini, Carla; Milana, Maria Chiara; Giglio, Sabrina; Madia, Francesca; Mattina, Teresa; Casabona, Antonino; Fichera, Marco; Rizzo, Renata Journal: International journal of developmental neuroscience Issue: Issue 80:Issue 4(2020:Jun.) Page Start: 276 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Clinical, neuroradiological, and biochemical features of SLC35A2‐CDG patients. Issue 3 (11th February 2019) Authors: Vals, Mari‐Anne; Ashikov, Angel; Ilves, Pilvi; Loorits, Dagmar; Zeng, Qiang; Barone, Rita; Huijben, Karin; Sykut‐Cegielska, Jolanta; Diogo, Luísa; Elias, Abdallah F.; Greenwood, Robert S.; Grunewald, Stephanie; van Hasselt, Peter M.; van de Kamp, Jiddeke M.; Mancini, Grazia; Okninska, Agnieszka; ... Journal: Journal of inherited metabolic disease Issue: Volume 42:Issue 3(2019) Page Start: 553 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. COG6‐CDG: Novel variants and novel malformation. Issue 5 (23rd January 2022) Authors: Cirnigliaro, Lara; Bianchi, Paolo; Sturiale, Luisa; Garozzo, Domenico; Mangili, Giovanna; Keldermans, Liesbeth; Rizzo, Renata; Matthijs, Gert; Fiumara, Agata; Jaeken, Jaak; Barone, Rita Journal: Birth defects research Issue: Volume 114:Issue 5/6(2022) Page Start: 165 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. CSF N‐glycan profile reveals sialylation deficiency in a patient with GM2 gangliosidosis presenting as childhood disintegrative disorder. Issue 4 (19th August 2015) Authors: Barone, Rita; Sturiale, Luisella; Fiumara, Agata; Palmigiano, Angelo; Bua, Rosaria O.; Rizzo, Renata; Zappia, Mario; Garozzo, Domenico Journal: Autism research Issue: Volume 9:Issue 4(2016) Page Start: 423 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Epilepsy and movement disorders in CDG: Report on the oldest‐known MOGS‐CDG patient. Issue 1 (15th October 2020) Authors: Lo Barco, Tommaso; Osanni, Elisa; Bordugo, Andrea; Rodella, Giulia; Iascone, Maria; Tenconi, Romano; Barone, Rita; Dalla Bernardina, Bernardo; Cantalupo, Gaetano Journal: American journal of medical genetics Issue: Volume 185:Issue 1(2021) Page Start: 219 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Familial 18q12.2 deletion supports the role of RNA‐binding protein CELF4 in autism spectrum disorders. Issue 6 (13th April 2017) Authors: Barone, Rita; Fichera, Marco; De Grandi, Mariaclara; Battaglia, Marta; Lo Faro, Valeria; Mattina, Teresa; Rizzo, Renata Journal: American journal of medical genetics Issue: Volume 173:Issue 6(2017) Page Start: 1649 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Familial 18q12.2 deletion supports the role of RNA‐binding protein CELF4 in autism spectrum disorders. Issue 6 (13th April 2017) Authors: Barone, Rita; Fichera, Marco; De Grandi, Mariaclara; Battaglia, Marta; Lo Faro, Valeria; Mattina, Teresa; Rizzo, Renata Journal: American journal of medical genetics Issue: Volume 173:Issue 6(2017) Page Start: 1649 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. International clinical guidelines for the management of phosphomannomutase 2‐congenital disorders of glycosylation: Diagnosis, treatment and follow up. Issue 1 (11th February 2019) Authors: Altassan, Ruqaiah; Péanne, Romain; Jaeken, Jaak; Barone, Rita; Bidet, Muad; Borgel, Delphine; Brasil, Sandra; Cassiman, David; Cechova, Anna; Coman, David; Corral, Javier; Correia, Joana; de la Morena‐Barrio, María Eugenia; de Lonlay, Pascale; Dos Reis, Vanessa; Ferreira, Carlos R; Fiumara, Agata... Journal: Journal of inherited metabolic disease Issue: Volume 42:Issue 1(2019) Page Start: 5 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗