1. Could a chimeric condition be responsible for unexpected genetic syndromes? The role of the single nucleotide polymorphism‐array analysis. Issue 3 (9th January 2019) Authors: Bottega, Roberta; Cappellani, Stefania; Fabretto, Antonella; Spinelli, Alessandro Mauro; Severini, Giovanni Maria; Aloisio, Michelangelo; Faleschini, Michela; Athanasakis, Emmanouil; Bruno, Irene; Faletra, Flavio; Pecile, Vanna Journal: Molecular genetics & genomic medicine Issue: Volume 7:Issue 3(2019) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Next-generation sequencing identified SPATC1L as a possible candidate gene for both early-onset and age-related hearing loss. (January 2019) Authors: Morgan, Anna; Vuckovic, Dragana; Krishnamoorthy, Navaneethakrishnan; Rubinato, Elisa; Ambrosetti, Umberto; Castorina, Pierangela; Franzè, Annamaria; Vozzi, Diego; La Bianca, Martina; Cappellani, Stefania; Di Stazio, Mariateresa; Gasparini, Paolo; Girotto, Giorgia Journal: European journal of human genetics Issue: Volume 27:Number 1(2019) Page Start: 70 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Phenotypic expression of 19q13.32 microdeletions: Report of a new patient and review of the literature. Issue 7 (14th April 2017) Authors: Travan, Laura; Naviglio, Samuele; De Cunto, Angela; Pellegrin, Andrea; Pecile, Vanna; Spinelli, Alessandro Mauro; Cappellani, Stefania; Faletra, Flavio Journal: American journal of medical genetics Issue: Volume 173:Issue 7(2017) Page Start: 1970 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Testing single/combined clinical categories on 5110 Italian patients with developmental phenotypes to improve array‐based detection rate. Issue 1 (18th December 2019) Authors: Catusi, Ilaria; Recalcati, Maria Paola; Bestetti, Ilaria; Garzo, Maria; Valtorta, Chiara; Alfonsi, Melissa; Alghisi, Alberta; Cappellani, Stefania; Casalone, Rosario; Caselli, Rossella; Ceccarini, Caterina; Ceglia, Carlo; Ciaschini, Anna Maria; Coviello, Domenico; Crosti, Francesca; D'Aprile, Ann... Journal: Molecular genetics & genomic medicine Issue: Volume 8:Issue 1(2020) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗