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: 1769+1G>A

PubMed Link: 33709208

Variant Present in the following documents:

• 439_2021_2257_MOESM1_ESM.pdf

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Triallelic and epigenetic-like inheritance in human disorders of telomerase.

Blood

Collopy, Laura C LC; Walne, Amanda J AJ; Cardoso, Shirleny S; de la Fuente, Josu J; Mohamed, Mahfuzah M; Toriello, Helga H; Tamary, Hannah H; Ling, Adam J Y V AJ; Lloyd, Timothy T; Kassam, Rebecca R; Tummala, Hemanth H; Vulliamy, Thomas J TJ; Dokal, Inderjeet I

Publication Date: 2015-07-09

Variant appearance in text: TERT: 1769+1G>A

PubMed Link: 26024875

Variant Present in the following documents:

• Main text

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