Publications:

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: TERT: 1456C>T; Arg486Cys

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Molecular genetics of idiopathic pulmonary fibrosis.

Vavilovskii Zhurnal Genetiki I Selektsii

Mustafin, R N RN

Publication Date: 2022-05

Variant appearance in text: TERT: 1456C>T

PubMed Link: 35795226

Variant Present in the following documents:

• Main text
• VJGB-26-2237.pdf

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Molecular Evaluation of Endometrial Dedifferentiated Carcinoma, Endometrioid Carcinoma, Carcinosarcoma, and Serous Carcinoma Using a Custom-Made Small Cancer Panel.

Pathology Oncology Research : Por

Kobayashi, Yusuke Y; Kitazono, Ikumi I; Akahane, Toshiaki T; Yanazume, Shintaro S; Kamio, Masaki M; Togami, Shinichi S; Nohara, Sachio S; Sakamoto, Ippei I; Yokoyama, Seiya S; Tabata, Kazuhiro K; Kobayashi, Hiroaki H; Tanimoto, Akihide A

Publication Date: 2021

Variant appearance in text: TERT: Arg486Cys

PubMed Link: 35002543

Variant Present in the following documents:

• Table4.xlsx, sheet 1

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Pathogenic Loss-of-Function Germline TERT Mutations in Patients With Solid Tumors.

Jco Precision Oncology

Walsh, Michael F MF; Sacca, Rosalba R; Wildman, Temima T; Amoroso, Kimberly K; Kennedy, Jennifer J; Zhang, Liying L; Birsoy, Ozge O; Mandelker, Diana D; Steinsnyder, Zoe Z; Latham, Alicia A; Carlo, Maria I MI; Cadoo, Karen K; Kemel, Yelena Y; Robson, Mark M; Stadler, Zsofia K ZK; Offit, Kenneth K

Publication Date: 2019

Variant appearance in text: TERT: R486C

PubMed Link: 32923861

Variant Present in the following documents:

• PO.19.00230.pdf

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Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports

Šimčíková, Daniela D; Heneberg, Petr P

Publication Date: 2019-12-09

Variant appearance in text: TERT: 1456C>T; R486C

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 9

View BVdb publication page

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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: Arg486Cys

PubMed Link: 31426295

Variant Present in the following documents:

• Main text
• jcm-08-01232.pdf

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Telomere-related lung fibrosis is diagnostically heterogeneous but uniformly progressive.

The European Respiratory Journal

Newton, Chad A CA; Batra, Kiran K; Torrealba, Jose J; Kozlitina, Julia J; Glazer, Craig S CS; Aravena, Carlos C; Meyer, Keith K; Raghu, Ganesh G; Collard, Harold R HR; Garcia, Christine Kim CK

Publication Date: 2016-12

Variant appearance in text: TERT: Arg486Cys

PubMed Link: 27540018

Variant Present in the following documents:

• Main text

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Genome sequencing of idiopathic pulmonary fibrosis in conjunction with a medical school human anatomy course.

Plos One

Kumar, Akash A; Dougherty, Max M; Findlay, Gregory M GM; Geisheker, Madeleine M; Klein, Jason J; Lazar, John J; Machkovech, Heather H; Resnick, Jesse J; Resnick, Rebecca R; Salter, Alexander I AI; Talebi-Liasi, Faezeh F; Arakawa, Christopher C; Baudin, Jacob J; Bogaard, Andrew A; Salesky, Rebecca R; Zhou, Qian Q; Smith, Kelly K; Clark, John I JI; Shendure, Jay J; Horwitz, Marshall S MS

Publication Date: 2014

Variant appearance in text: TERT: R486C

PubMed Link: 25192356

Variant Present in the following documents:

• Main text
• pone.0106744.pdf

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Medical genetics and epigenetics of telomerase.

Journal Of Cellular And Molecular Medicine

Koziel, Jillian E JE; Fox, Melanie J MJ; Steding, Catherine E CE; Sprouse, Alyssa A AA; Herbert, Brittney-Shea BS

Publication Date: 2011-03

Variant appearance in text: TERT: R486C

PubMed Link: 21323862

Variant Present in the following documents:

• Main text
• jcmm0015-0457.pdf

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Telomere lengths, pulmonary fibrosis and telomerase (TERT) mutations.

Plos One

Diaz de Leon, Alberto A; Cronkhite, Jennifer T JT; Katzenstein, Anna-Luise A AL; Godwin, J David JD; Raghu, Ganesh G; Glazer, Craig S CS; Rosenblatt, Randall L RL; Girod, Carlos E CE; Garrity, Edward R ER; Xing, Chao C; Garcia, Christine Kim CK

Publication Date: 2010-05-19

Variant appearance in text: TERT: R486C

PubMed Link: 20502709

Variant Present in the following documents:

• Main text
• pone.0010680.pdf
• pone.0010680.s003.pdf

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Adult-onset pulmonary fibrosis caused by mutations in telomerase.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Tsakiri, Kalliopi D KD; Cronkhite, Jennifer T JT; Kuan, Phillip J PJ; Xing, Chao C; Raghu, Ganesh G; Weissler, Jonathan C JC; Rosenblatt, Randall L RL; Shay, Jerry W JW; Garcia, Christine Kim CK

Publication Date: 2007-05-01

Variant appearance in text: TERT: 1456C>T; R486C

PubMed Link: 17460043

Variant Present in the following documents:

• Main text

View BVdb publication page

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