1. Antioxidant treatment ameliorates phenotypic features of SMC1A-mutated Cornelia de Lange syndrome in vitro and in vivo. (30th May 2018) Authors: Cukrov, Dubravka; Newman, Trent A C; Leask, Megan; Leeke, Bryony; Sarogni, Patrizia; Patimo, Alessandra; Kline, Antonie D; Krantz, Ian D; Horsfield, Julia A; Musio, Antonio Journal: Human molecular genetics Issue: Volume 27:Number 17(2018:Sep. 01) Page Start: 3002 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Disease-associated c-MYC downregulation in human disorders of transcriptional regulation. Issue 10 (29th November 2021) Authors: Pallotta, Maria M; Di Nardo, Maddalena; Sarogni, Patrizia; Krantz, Ian D; Musio, Antonio Journal: Human molecular genetics Issue: Volume 31:Issue 10(2022) Page Start: 1599 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Missense variants in the chromatin remodeler CHD1 are associated with neurodevelopmental disability. Issue 8 (2nd September 2017) Authors: Pilarowski, Genay O; Vernon, Hilary J; Applegate, Carolyn D; Boukas, Leandros; Cho, Megan T; Gurnett, Christina A; Benke, Paul J; Beaver, Erin; Heeley, Jennifer M; Medne, Livija; Krantz, Ian D; Azage, Meron; Niyazov, Dmitriy; Henderson, Lindsay B; Wentzensen, Ingrid M; Baskin, Berivan; Sacoto, Ma... Journal: Journal of medical genetics Issue: Volume 55:Issue 8(2018) Page Start: 561 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. NOTCH2 mutations in Alagille syndrome. Issue 2 (29th December 2011) Authors: Kamath, Binita Maya; Bauer, Robert C; Loomes, Kathleen M; Chao, Grace; Gerfen, Jennifer; Hutchinson, Anne; Hardikar, Winita; Hirschfield, Gideon; Jara, Paloma; Krantz, Ian D; Lapunzina, Pablo; Leonard, Laura; Ling, Simon; Ng, Vicky Lee; Hoang, Phuc Le; Piccoli, David A; Spinner, Nancy Bettina Journal: Journal of medical genetics Issue: Volume 49:Issue 2(2012) Page Start: 138 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗