1. A New Homozygous IGF1R Variant Defines a Clinically Recognizable Incomplete Dominant form of SHORT Syndrome. Issue 11 (24th August 2015) Authors: Prontera, Paolo; Micale, Lucia; Verrotti, Alberto; Napolioni, Valerio; Stangoni, Gabriela; Merla, Giuseppe Journal: Human mutation Issue: Volume 36:Issue 11(2015:Nov.) Page Start: 1043 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A novel MED12 mutation: Evidence for a fourth phenotype. Issue 9 (17th June 2016) Authors: Prontera, Paolo; Ottaviani, Valentina; Rogaia, Daniela; Isidori, Ilenia; Mencarelli, Amedea; Malerba, Natascia; Cocciadiferro, Dario; Rolph, Pfundt; Stangoni, Gabriela; Vulto‐van Silfhout, Anneke; Merla, Giuseppe Journal: American journal of medical genetics Issue: Volume 170:Issue 9(2016) Page Start: 2377 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A single‐center study on 140 patients with cerebral cavernous malformations: 28 new pathogenic variants and functional characterization of a PDCD10 large deletion. Issue 12 (24th September 2018) Authors: Nardella, Grazia; Visci, Grazia; Guarnieri, Vito; Castellana, Stefano; Biagini, Tommaso; Bisceglia, Luigi; Palumbo, Orazio; Trivisano, Marina; Vaira, Carmela; Scerrati, Massimo; Debrasi, Davide; D'Angelo, Vincenzo; Carella, Massimo; Merla, Giuseppe; Mazza, Tommaso; Castori, Marco; D'Agruma, Leona... Journal: Human mutation Issue: Volume 39:Issue 12(2018) Page Start: 1885 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. A small 7q11.23 microduplication involving GTF2I in a family with intellectual disability. Issue 6 (29th April 2020) Authors: Pinelli, Michele; Terrone, Gaetano; Troglio, Flavia; Squeo, Gabriella Maria; Cappuccio, Gerarda; Imperati, Floriana; Pignataro, Piero; Genesio, Rita; Nitch, Lucio; Del Giudice, Ennio; Merla, Giuseppe; Testa, Giuseppe; Brunetti‐Pierri, Nicola Journal: Clinical genetics Issue: Volume 97:Issue 6(2020) Page Start: 940 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Aggressive desmoid fibromatosis in Kabuki syndrome: Expanding the tumor spectrum. Issue 9 (27th May 2019) Authors: Scala, Marcello; Morana, Giovanni; Sementa, Angela R.; Merla, Giuseppe; Piatelli, Gianluca; Capra, Valeria; Pavanello, Marco Journal: Pediatric blood & cancer Issue: Volume 66:Issue 9(2019) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Customised next-generation sequencing multigene panel to screen a large cohort of individuals with chromatin-related disorder. Issue 11 (13th March 2020) Authors: Squeo, Gabriella Maria; Augello, Bartolomeo; Massa, Valentina; Milani, Donatella; Colombo, Elisa Adele; Mazza, Tommaso; Castellana, Stefano; Piccione, Maria; Maitz, Silvia; Petracca, Antonio; Prontera, Paolo; Accadia, Maria; Della Monica, Matteo; Di Giacomo, Marilena Carmela; Melis, Daniela; Seli... Journal: Journal of medical genetics Issue: Volume 57:Issue 11(2020) Page Start: 760 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Deregulated expression of cryptochrome genes in human colorectal cancer. Issue 1 (December 2016) Authors: Mazzoccoli, Gianluigi; Colangelo, Tommaso; Panza, Anna; Rubino, Rosa; De Cata, Angelo; Tiberio, Cristiana; Valvano, Maria; Pazienza, Valerio; Merla, Giuseppe; Augello, Bartolomeo; Trombetta, Domenico; Storlazzi, Clelia; Macchia, Gemma; Gentile, Annamaria; Tavano, Francesca; Vinciguerra, Manlio; B... Journal: Molecular cancer Issue: Volume 15:Issue 1(2016) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Dissecting KMT2D missense mutations in Kabuki syndrome patients. (22nd June 2018) Authors: Cocciadiferro, Dario; Augello, Bartolomeo; De Nittis, Pasquelena; Zhang, Jiyuan; Mandriani, Barbara; Malerba, Natascia; Squeo, Gabriella M; Romano, Alessandro; Piccinni, Barbara; Verri, Tiziano; Micale, Lucia; Pasqualucci, Laura; Merla, Giuseppe Journal: Human molecular genetics Issue: Volume 27:Number 21(2018:Nov. 01) Page Start: 3651 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Effect of diazoxide on Friedreich ataxia models. (8th January 2018) Authors: Santoro, Antonella; Anjomani Virmouni, Sara; Paradies, Eleonora; Villalobos Coa, Valentina L; Al-Mahdawi, Sahar; Khoo, Mee; Porcelli, Vito; Vozza, Angelo; Perrone, Mara; Denora, Nunzio; Taroni, Franco; Merla, Giuseppe; Palmieri, Luigi; Pook, Mark A; Marobbio, Carlo M T Journal: Human molecular genetics Issue: Volume 27:Number 6(2018:Mar. 15) Page Start: 992 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders. Issue 11 (21st August 2022) Authors: Levy, Michael A.; Relator, Raissa; McConkey, Haley; Pranckeviciene, Erinija; Kerkhof, Jennifer; Barat‐Houari, Mouna; Bargiacchi, Sara; Biamino, Elisa; Palomares Bralo, María; Cappuccio, Gerarda; Ciolfi, Andrea; Clarke, Angus; DuPont, Barbara R.; Elting, Mariet W.; Faivre, Laurence; Fee, Timothy; ... Other Names: Scott Stuart A. guestEditor.; Wang Kai guestEditor.; Spinner Nancy B. guestEditor. Journal: Human mutation Issue: Volume 43:Issue 11(2022) Page Start: 1609 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗