Long tails, short telomeres: Dyskeratosis congenita

por Tummala, Hemanth, Walne, Amanda J.
Publicado 2015

TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes

por Walne, Amanda J., Vulliamy, Tom, Beswick, Richard, Kirwan, Michael, Dokal, Inderjeet
Publicado 2008

Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund–Thomson syndrome

por Walne, Amanda J., Vulliamy, Tom, Beswick, Richard, Kirwan, Michael, Dokal, Inderjeet
Publicado 2010

Constitutional Mutations in RTEL1 Cause Severe Dyskeratosis Congenita

por Walne, Amanda J., Vulliamy, Tom, Kirwan, Michael, Plagnol, Vincent, Dokal, Inderjeet
Publicado 2013

Dyskeratosis congenita and the DNA damage response

por Kirwan, Michael, Beswick, Richard, Walne, Amanda J, Hossain, Upal, Casimir, Colin, Vulliamy, Tom, Dokal, Inderjeet
Publicado 2011

Genome-wide whole-blood transcriptome profiling across inherited bone marrow failure subtypes

por Walne, Amanda J., Vulliamy, Tom, Bewicke-Copley, Findlay, Wang, Jun, Alnajar, Jenna, Bridger, Maria G., Ma, Bernard, Tummala, Hemanth, Dokal, Inderjeet
Publicado 2021

High-throughput STELA provides a rapid test for the diagnosis of telomere biology disorders

por Norris, Kevin, Walne, Amanda J., Ponsford, Mark J., Cleal, Kez, Grimstead, Julia W., Ellison, Alicia, Alnajar, Jenna, Dokal, Inderjeet, Vulliamy, Tom, Baird, Duncan M.
Publicado 2021

A frameshift variant in specificity protein 1 triggers superactivation of Sp1-mediated transcription in familial bone marrow failure

por Tummala, Hemanth, Walne, Amanda J., Bewicke-Copley, Findlay, Ellison, Alicia, Pontikos, Nikolas, Bridger, Maria G., Rio-Machin, Ana, Sidhu, Jasmin K., Wang, Jun, Hasle, Henrik, Fitzgibbon, Jude, Vulliamy, Tom, Dokal, Inderjeet
Publicado 2020