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: 2935C>T; Arg979Trp

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM5_ESM.xlsx, sheet 4

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Molecular mechanisms of telomere biology disorders.

The Journal Of Biological Chemistry

Grill, Sherilyn S; Nandakumar, Jayakrishnan J

Publication Date: 2021

Variant appearance in text: TERT: R979W

PubMed Link: 33482595

Variant Present in the following documents:

• Main text
• main.pdf

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RNF213 gene mutation in circulating tumor DNA detected by targeted next-generation sequencing in the assisted discrimination of early-stage lung cancer from pulmonary nodules.

Thoracic Cancer

Jiang, Ning N; Zhou, Jie J; Zhang, Wenhao W; Li, Peichao P; Liu, Yu Y; Shi, Hubo H; Zhang, Chengke C; Wang, Yunshan Y; Zhou, Chengjun C; Peng, Chuanliang C; Zhang, Weiquan W; Hao, Yingtao Y; Sun, Qifeng Q; Li, Yuliang Y; Zhao, Xiaogang X

Publication Date: 2021-01

Variant appearance in text: rs199422305

PubMed Link: 33200540

Variant Present in the following documents:

• TCA-12-181-s002.xlsx, sheet 1

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Integrated genomic analysis reveals mutated ELF3 as a potential gallbladder cancer vaccine candidate.

Nature Communications

Pandey, Akhilesh A; Stawiski, Eric W EW; Durinck, Steffen S; Gowda, Harsha H; Goldstein, Leonard D LD; Barbhuiya, Mustafa A MA; Schröder, Markus S MS; Sreenivasamurthy, Sreelakshmi K SK; Kim, Sun-Whe SW; Phalke, Sameer S; Suryamohan, Kushal K; Lee, Kayla K; Chakraborty, Papia P; Kode, Vasumathi V; Shi, Xiaoshan X; Chatterjee, Aditi A; Datta, Keshava K; Khan, Aafaque A AA; Subbannayya, Tejaswini T; Wang, Jing J; Chaudhuri, Subhra S; Gupta, Sanjiv S; Shrivastav, Braj Raj BR; Jaiswal, Bijay S BS; Poojary, Satish S SS; Bhunia, Shushruta S; Garcia, Patricia P; Bizama, Carolina C; Rosa, Lorena L; Kwon, Wooil W; Kim, Hongbeom H; Han, Youngmin Y; Yadav, Thakur Deen TD; Ramprasad, Vedam L VL; Chaudhuri, Amitabha A; Modrusan, Zora Z; Roa, Juan Carlos JC; Tiwari, Pramod Kumar PK; Jang, Jin-Young JY; Seshagiri, Somasekar S

Publication Date: 2020-08-24

Variant appearance in text: TERT: 2935C>T; Arg979Trp

PubMed Link: 32839463

Variant Present in the following documents:

• 41467_2020_17880_MOESM5_ESM.xlsx, sheet 1

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Structural Analysis Reveals the Deleterious Effects of Telomerase Mutations in Bone Marrow Failure Syndromes.

The Journal Of Biological Chemistry

Hoffman, Hunter H; Rice, Cory C; Skordalakes, Emmanuel E

Publication Date: 2017-03-17

Variant appearance in text: TERT: R979W

PubMed Link: 28154186

Variant Present in the following documents:

• Main text

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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: R979W

PubMed Link: 25244922

Variant Present in the following documents:

• Main text

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Many disease-associated variants of hTERT retain high telomerase enzymatic activity.

Nucleic Acids Research

Zaug, Arthur J AJ; Crary, Sharon M SM; Jesse Fioravanti, Matthew M; Campbell, Kristina K; Cech, Thomas R TR

Publication Date: 2013-10

Variant appearance in text: TERT: R979W

PubMed Link: 23901009

Variant Present in the following documents:

• Main text
• supp_gkt653_nar-01604-r-2013-File007.pdf
• gkt653.pdf

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Telomere shortening and loss of self-renewal in dyskeratosis congenita induced pluripotent stem cells.

Nature

Batista, Luis F Z LF; Pech, Matthew F MF; Zhong, Franklin L FL; Nguyen, Ha Nam HN; Xie, Kathleen T KT; Zaug, Arthur J AJ; Crary, Sharon M SM; Choi, Jinkuk J; Sebastiano, Vittorio V; Cherry, Athena A; Giri, Neelam N; Wernig, Marius M; Alter, Blanche P BP; Cech, Thomas R TR; Savage, Sharon A SA; Reijo Pera, Renee A RA; Artandi, Steven E SE

Publication Date: 2011-05-22

Variant appearance in text: TERT: R979W

PubMed Link: 21602826

Variant Present in the following documents:

• Main text
• NIHMS313005-supplement-1.pdf
• nihms313005.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: R979W

PubMed Link: 21323862

Variant Present in the following documents:

• Main text
• jcmm0015-0457.pdf

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