Publications:

Ultraviolet radiation drives mutations in a subset of mucosal melanomas.

Nature Communications

Mundra, Piyushkumar A PA; Dhomen, Nathalie N; Rodrigues, Manuel M; Mikkelsen, Lauge Hjorth LH; Cassoux, Nathalie N; Brooks, Kelly K; Valpione, Sara S; Reis-Filho, Jorge S JS; Heegaard, Steffen S; Stern, Marc-Henri MH; Roman-Roman, Sergio S; Marais, Richard R

Publication Date: 2021-01-11

Variant appearance in text: TERT: G629R

PubMed Link: 33431815

Variant Present in the following documents:

• 41467_2020_20432_MOESM4_ESM.xlsx, sheet 1

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Functional validation of TERT and TERC variants of uncertain significance in patients with short telomere syndromes.

Blood Cancer Journal

Ferrer, Alejandro A; Mangaonkar, Abhishek A AA; Stroik, Susanna S; Zimmermann, Michael T MT; Sigafoos, Ashley N AN; Kamath, Patrick S PS; Simonetto, Douglas A DA; Wylam, Mark E ME; Carmona, Eva M EM; Lazaridis, Konstantinos N KN; Peters, Steve S; Stewart, Keith K; Klee, Eric W EW; Hendrickson, Eric A EA; Patnaik, Mrinal M MM

Publication Date: 2020-11-17

Variant appearance in text: TERT: 1885G>A; Gly629Arg

PubMed Link: 33203829

Variant Present in the following documents:

• Main text
• 41408_2020_Article_386.pdf

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Clinical significance of stromal ER and PR expression in periampullary adenocarcinoma.

Biomarker Research

Andersson, Gustav G; Lundgren, Sebastian S; Heby, Margareta M; Nodin, Björn B; Elebro, Jacob J; Jirström, Karin K

Publication Date: 2019

Variant appearance in text: TERT: 1885G>A; Gly629Ser

PubMed Link: 31827798

Variant Present in the following documents:

• 40364_2019_176_MOESM1_ESM.xlsx, sheet 1

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Telomere Abnormalities in the Pathobiology of Idiopathic Pulmonary Fibrosis.

Journal Of Clinical Medicine

Bilgili, Hasancan H; Białas, Adam J AJ; Górski, Paweł P; Piotrowski, Wojciech J WJ

Publication Date: 2019-08-16

Variant appearance in text: TERT: Gly629Arg

PubMed Link: 31426295

Variant Present in the following documents:

• Main text
• jcm-08-01232.pdf

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An Exome Sequencing Study to Assess the Role of Rare Genetic Variation in Pulmonary Fibrosis.

American Journal Of Respiratory And Critical Care Medicine

Petrovski, Slavé S; Todd, Jamie L JL; Durheim, Michael T MT; Wang, Quanli Q; Chien, Jason W JW; Kelly, Fran L FL; Frankel, Courtney C; Mebane, Caroline M CM; Ren, Zhong Z; Bridgers, Joshua J; Urban, Thomas J TJ; Malone, Colin D CD; Finlen Copeland, Ashley A; Brinkley, Christie C; Allen, Andrew S AS; O'Riordan, Thomas T; McHutchison, John G JG; Palmer, Scott M SM; Goldstein, David B DB

Publication Date: 2017-07-01

Variant appearance in text: TERT: Gly629Arg

PubMed Link: 28099038

Variant Present in the following documents:

• Main text

View BVdb publication page