Targeted resequencing of 52 bone marrow failure genes in patients with aplastic anemia reveals an increased frequency of novel variants of unknown significance only in SLX4

द्वारा Collopy, Laura C., Walne, Amanda J., Vulliamy, Tom J., Dokal, Inderjeet S.
प्रकाशित 2014

Differences in Disease Severity but Similar Telomere Lengths in Genetic Subgroups of Patients with Telomerase and Shelterin Mutations

द्वारा Vulliamy, Tom J., Kirwan, Michael J., Beswick, Richard, Hossain, Upal, Baqai, Charlotte, Ratcliffe, Anna, Marsh, Judith, Walne, Amanda, Dokal, Inderjeet
प्रकाशित 2011

Germline NPM1 mutations lead to altered rRNA 2’-O-methylation and cause dyskeratosis congenita

द्वारा Nachmani, Daphna, Bothmer, Anne H., Grisendi, Silvia, Mele, Aldo, Bothmer, Dietmar, Lee, Jonathan D., Monteleone, Emanuele, Cheng, Ke, Zhang, Yang, Bester, Assaf C., Guzzetti, Alison, Mitchell, Caitlin A., Mendez, Lourdes M., Pozdnyakova, Olga, Sportoletti, Paolo, Martelli, Maria-Paola, Vulliamy, Tom J., Safra, Modi, Schwartz, Schraga, Luzzatto, Lucio, Bluteau, Olivier, Soulier, Jean, Darnell, Robert B., Falini, Brunangelo, Dokal, Inderjeet, Ito, Keisuke, Clohessy, John G., Pandolfi, Pier Paolo
में प्रकाशित Nat Genet (2019)