1. Giant tortoise genomes provide insights into longevity and age-related disease. Issue 1 (January 2019) Authors: Quesada, Víctor; Freitas-Rodríguez, Sandra; Miller, Joshua; Pérez-Silva, José; Jiang, Zi-Feng; Tapia, Washington; Santiago-Fernández, Olaya; Campos-Iglesias, Diana; Kuderna, Lukas; Quinzin, Maud; Álvarez, Miguel; Carrero, Dido; Beheregaray, Luciano; Gibbs, James; Chiari, Ylenia; Glaberman, Scott;... Journal: Nature ecology & evolution Issue: Volume 3:Issue 1(2019) Page Start: 87 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Novel LMNA mutations cause an aggressive atypical neonatal progeria without progerin accumulation. Issue 11 (22nd June 2016) Authors: Soria-Valles, Clara; Carrero, Dido; Gabau, Elisabeth; Velasco, Gloria; Quesada, Víctor; Bárcena, Clea; Moens, Marleen; Fieggen, Karen; Möhrcken, Silvia; Owens, Martina; Puente, Diana A; Asensio, Óscar; Loeys, Bart; Pérez, Ana; Benoit, Valerie; Wuyts, Wim; Lévy, Nicolas; Hennekam, Raoul C; De Sand... Journal: Journal of medical genetics Issue: Volume 53:Issue 11(2016) Page Start: 776 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Specific combinations of biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome. Issue 12 (15th October 2018) Authors: Paolacci, Stefano; Li, Yun; Agolini, Emanuele; Bellacchio, Emanuele; Arboleda-Bustos, Carlos E; Carrero, Dido; Bertola, Debora; Al-Gazali, Lihadh; Alders, Mariel; Altmüller, Janine; Arboleda, Gonzalo; Beleggia, Filippo; Bruselles, Alessandro; Ciolfi, Andrea; Gillessen-Kaesbach, Gabriele; Krieg, T... Journal: Journal of medical genetics Issue: Volume 55:Issue 12(2018) Page Start: 837 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗