Publications:

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Acquired somatic variants in inherited myeloid malignancies.

Leukemia

Armes, Hannah H; Rio-Machin, Ana A; Krizsán, Szilvia S; Bödör, Csaba C; Kaya, Fadimana F; Bewicke-Copley, Findlay F; Alnajar, Jenna J; Walne, Amanda A; Péterffy, Borbála B; Tummala, Hemanth H; Rouault-Pierre, Kevin K; Dokal, Inderjeet I; Vulliamy, Tom T; Fitzgibbon, Jude J

Publication Date: 2022-05

Variant appearance in text: TERT: Arg83Pro

PubMed Link: 35140362

Variant Present in the following documents:

• Main text
• 41375_2022_1515_MOESM3_ESM.xlsx, sheet 1
• 41375_2022_Article_1515.pdf
• 41375_2022_1515_MOESM1_ESM.pdf

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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: 248G>C; Arg83Pro

PubMed Link: 33709208

Variant Present in the following documents:

• 439_2021_2257_MOESM1_ESM.pdf

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The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants.

Nature Communications

Rio-Machin, Ana A; Vulliamy, Tom T; Hug, Nele N; Walne, Amanda A; Tawana, Kiran K; Cardoso, Shirleny S; Ellison, Alicia A; Pontikos, Nikolas N; Wang, Jun J; Tummala, Hemanth H; Al Seraihi, Ahad Fahad H AFH; Alnajar, Jenna J; Bewicke-Copley, Findlay F; Armes, Hannah H; Barnett, Michael M; Bloor, Adrian A; Bödör, Csaba C; Bowen, David D; Fenaux, Pierre P; Green, Andrew A; Hallahan, Andrew A; Hjorth-Hansen, Henrik H; Hossain, Upal U; Killick, Sally S; Lawson, Sarah S; Layton, Mark M; Male, Alison M AM; Marsh, Judith J; Mehta, Priyanka P; Mous, Rogier R; Nomdedéu, Josep F JF; Owen, Carolyn C; Pavlu, Jiri J; Payne, Elspeth M EM; Protheroe, Rachel E RE; Preudhomme, Claude C; Pujol-Moix, Nuria N; Renneville, Aline A; Russell, Nigel N; Saggar, Anand A; Sciuccati, Gabriela G; Taussig, David D; Toze, Cynthia L CL; Uyttebroeck, Anne A; Vandenberghe, Peter P; Schlegelberger, Brigitte B; Ripperger, Tim T; Steinemann, Doris D; Wu, John J; Mason, Joanne J; Page, Paula P; Akiki, Susanna S; Reay, Kim K; Cavenagh, Jamie D JD; Plagnol, Vincent V; Caceres, Javier F JF; Fitzgibbon, Jude J; Dokal, Inderjeet I

Publication Date: 2020-02-25

Variant appearance in text: TERT: 248G>C; Arg83Pro

PubMed Link: 32098966

Variant Present in the following documents:

• 41467_2020_14829_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Genetic analyses of aplastic anemia and idiopathic pulmonary fibrosis patients with short telomeres, possible implication of DNA-repair genes.

Orphanet Journal Of Rare Diseases

Arias-Salgado, Elena G EG; Galvez, Eva E; Planas-Cerezales, Lurdes L; Pintado-Berninches, Laura L; Vallespin, Elena E; Martinez, Pilar P; Carrillo, Jaime J; Iarriccio, Laura L; Ruiz-Llobet, Anna A; Catalá, Albert A; Badell-Serra, Isabel I; Gonzalez-Granado, Luis I LI; Martín-Nalda, Andrea A; Martínez-Gallo, Mónica M; Galera-Miñarro, Ana A; Rodríguez-Vigil, Carmen C; Bastos-Oreiro, Mariana M; Perez de Nanclares, Guiomar G; Leiro-Fernández, Virginia V; Uria, Maria-Luz ML; Diaz-Heredia, Cristina C; Valenzuela, Claudia C; Martín, Sara S; López-Muñiz, Belén B; Lapunzina, Pablo P; Sevilla, Julian J; Molina-Molina, María M; Perona, Rosario R; Sastre, Leandro L

Publication Date: 2019-04-17

Variant appearance in text: TERT: R83P

PubMed Link: 30995915

Variant Present in the following documents:

• Main text
• 13023_2019_Article_1046.pdf

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Telomere-regulating genes and the telomere interactome in familial cancers.

Molecular Cancer Research : Mcr

Robles-Espinoza, Carla Daniela CD; Velasco-Herrera, Martin del Castillo Mdel C; Hayward, Nicholas K NK; Adams, David J DJ

Publication Date: 2015-02

Variant appearance in text: TERT: R83P

PubMed Link: 25244922

Variant Present in the following documents:

• Main text

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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: Arg83Pro

PubMed Link: 21931702

Variant Present in the following documents:

• Main text
• pone.0024383.pdf

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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: Arg83Pro

PubMed Link: 21477209

Variant Present in the following documents:

• Main text
• bjh0153-0634.pdf

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