1. Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies. Issue 4 (5th October 2019) Authors: Bogliolo, Massimo; Pujol, Roser; Aza-Carmona, Miriam; Muñoz-Subirana, Núria; Rodriguez-Santiago, Benjamin; Casado, José Antonio; Rio, Paula; Bauser, Christopher; Reina-Castillón, Judith; Lopez-Sanchez, Marcos; Gonzalez-Quereda, Lidia; Gallano, Pia; Catalá, Albert; Ruiz-Llobet, Ana; Badell, Isabel... Journal: Journal of medical genetics Issue: Volume 57:Issue 4(2020) Page Start: 258 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Reply to 'Mosaic loss of chromosome Y in leukocytes matters'. (January 2019) Authors: Zhou, Weiyin; Machiela, Mitchell; Freedman, Neal; Rothman, Nathaniel; Malats, Nuria; Dagnall, Casey; Caporaso, Neil; Teras, Lauren; Gaudet, Mia; Gapstur, Susan; Stevens, Victoria; Jacobs, Kevin; Sampson, Joshua; Albanes, Demetrius; Weinstein, Stephanie; Virtamo, Jarmo; Berndt, Sonja; Hoover, Robe... Journal: Nature genetics Issue: Volume 51:Number 1(2019) Page Start: 7 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗