1. Abnormal cerebellar foliation in EBF3 mutation. (26th May 2020) Authors: D'Arrigo, Stefano; Moscatelli, Marco; Ciaccio, Claudia; Pantaleoni, Chiara; Castello, Raffaele; Chiapparini, Luisa Journal: Neurology Issue: Volume 94:Number 21(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Expanding the PURA syndrome phenotype: A child with the recurrent PURA p.(Phe233del) pathogenic variant showing similarities with cutis laxa. Issue 1 (4th December 2020) Authors: Cinquina, Valeria; Ciaccio, Claudia; Venturini, Marina; Masson, Riccardo; Ritelli, Marco; Colombi, Marina Journal: Molecular genetics & genomic medicine Issue: Volume 9:Issue 1(2021) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Further delineation of FKBP14‐related Ehlers–Danlos syndrome: A patient with early vascular complications and non‐progressive kyphoscoliosis, and literature review. Issue 8 (5th May 2016) Authors: Dordoni, Chiara; Ciaccio, Claudia; Venturini, Marina; Calzavara‐Pinton, Piergiacomo; Ritelli, Marco; Colombi, Marina Journal: American journal of medical genetics Issue: Volume 170:Issue 8(2016) Page Start: 2031 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Marfan syndrome: Report of a complex phenotype due to a 15q21.1 contiguos gene deletion encompassing FBN1, and literature review. Issue 1 (12th September 2016) Authors: Dordoni, Chiara; Ciaccio, Claudia; Santoro, Graziano; Venturini, Marina; Cavallari, Ugo; Ritelli, Marco; Colombi, Marina Journal: American journal of medical genetics Issue: Volume 173:Issue 1(2017) Page Start: 200 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. MIR137 is the key gene mediator of the syndromic obesity phenotype of patients with 1p21.3 microdeletions. Issue 1 (December 2016) Authors: Tucci, Arianna; Ciaccio, Claudia; Scuvera, Giulietta; Esposito, Susanna; Milani, Donatella Journal: Molecular cytogenetics Issue: Volume 9:Issue 1(2016) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Mirror syndromes regarding AKT3 mutations: Loss of function variant leading to microcephaly. Issue 11 (21st August 2020) Authors: Ciaccio, Claudia; Cellini, Elena; Guerrini, Renzo; Pantaleoni, Chiara; Masson, Riccardo Journal: American journal of medical genetics Issue: Volume 182:Issue 11(2020) Page Start: 2800 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Neurological phenotype of Potocki–Lupski syndrome. Issue 10 (15th August 2020) Authors: Ciaccio, Claudia; Pantaleoni, Chiara; Milani, Donatella; Alfei, Enrico; Sciacca, Francesca L.; Canafoglia, Laura; Erbetta, Alessandra; D'Arrigo, Stefano Journal: American journal of medical genetics Issue: Volume 182:Issue 10(2020) Page Start: 2317 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Periventricular heterotopia in a male child with USP9X missense variant. Issue 5 (21st January 2023) Authors: De Laurentiis, Arianna; Ciaccio, Claudia; Erbetta, Alessandra; Pinelli, Michele; Nigro, Vincenzo; Pantaleoni, Chiara; D'Arrigo, Stefano Journal: American journal of medical genetics Issue: Volume 191:Issue 5(2023) Page Start: 1350 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Phenotypic spectrum of the recurrent TRPM3 p.(Val837Met) substitution in seven individuals with global developmental delay and hypotonia. Issue 6 (10th February 2022) Authors: Lines, Matthew A.; Goldenberg, Paula; Wong, Ashley; Srivastava, Siddharth; Bayat, Allan; Hove, Hanne; Karstensen, Helena Gásdal; Anyane‐Yeboa, Kwame; Liao, Jun; Jiang, Nan; May, Alison; Guzman, Edwin; Morleo, Manuela; D'Arrigo, Stefano; Ciaccio, Claudia; Pantaleoni, Chiara; Castello, Raffaele; Mc... Journal: American journal of medical genetics Issue: Volume 188:Issue 6(2022) Page Start: 1667 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗