Publications:

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

Human Genetics

Norris, Kevin K; Walne, Amanda J AJ; Ponsford, Mark J MJ; Cleal, Kez K; Grimstead, Julia W JW; Ellison, Alicia A; Alnajar, Jenna J; Dokal, Inderjeet I; Vulliamy, Tom T; Baird, Duncan M DM

Publication Date: 2021-06

Variant appearance in text: TERT: 166G>C; Val56Leu

PubMed Link: 33709208

Variant Present in the following documents:

• 439_2021_2257_MOESM1_ESM.pdf

View BVdb publication page

Differences in disease severity but similar telomere lengths in genetic subgroups of patients with telomerase and shelterin mutations.

Plos One

Vulliamy, Tom J TJ; Kirwan, Michael J MJ; Beswick, Richard R; Hossain, Upal U; Baqai, Charlotte C; Ratcliffe, Anna A; Marsh, Judith J; Walne, Amanda A; Dokal, Inderjeet I

Publication Date: 2011

Variant appearance in text: TERT: Val56Leu

PubMed Link: 21931702

Variant Present in the following documents:

• Main text
• pone.0024383.pdf

View BVdb publication page

Dyskeratosis congenita and the DNA damage response.

British Journal Of Haematology

Kirwan, Michael M; Beswick, Richard R; Walne, Amanda J AJ; Hossain, Upal U; Casimir, Colin C; Vulliamy, Tom T; Dokal, Inderjeet I

Publication Date: 2011-06

Variant appearance in text: TERT: Val56Leu

PubMed Link: 21477209

Variant Present in the following documents:

• Main text
• bjh0153-0634.pdf

View BVdb publication page