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: 508G>A; Val170Met

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM5_ESM.xlsx, sheet 4

View BVdb publication page

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Pathogenic TERT promoter variants in telomere diseases.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Gutierrez-Rodrigues, Fernanda F; Donaires, Flávia S FS; Pinto, André A; Vicente, Alana A; Dillon, Laura W LW; Clé, Diego V DV; Santana, Barbara A BA; Pirooznia, Mehdi M; Ibanez, Maria Del Pilar F MDPF; Townsley, Danielle M DM; Kajigaya, Sachiko S; Hourigan, Christopher S CS; Cooper, James N JN; Calado, Rodrigo T RT; Young, Neal S NS

Publication Date: 2019-07

Variant appearance in text: TERT: 508G>A

PubMed Link: 30523342

Variant Present in the following documents:

• Main text
• 41436_2018_385_MOESM1_ESM.pdf
• 41436_2018_Article_385.pdf

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Impaired Cytomegalovirus Immunity in Idiopathic Pulmonary Fibrosis Lung Transplant Recipients with Short Telomeres.

American Journal Of Respiratory And Critical Care Medicine

Popescu, Iulia I; Mannem, Hannah H; Winters, Spencer A SA; Hoji, Aki A; Silveira, Fernanda F; McNally, Emily E; Pipeling, Matthew R MR; Lendermon, Elizabeth A EA; Morrell, Matthew R MR; Pilewski, Joseph M JM; Hanumanthu, Vidya Sagar VS; Zhang, Yingze Y; Gulati, Swati S; Shah, Pali D PD; Iasella, Carlo J CJ; Ensor, Christopher R CR; Armanios, Mary M; McDyer, John F JF

Publication Date: 2019-02-01

Variant appearance in text: TERT: V170M

PubMed Link: 30088779

Variant Present in the following documents:

• Main text

View BVdb publication page

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Diagnostic utility of telomere length testing in a hospital-based setting.

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

Alder, Jonathan K JK; Hanumanthu, Vidya Sagar VS; Strong, Margaret A MA; DeZern, Amy E AE; Stanley, Susan E SE; Takemoto, Clifford M CM; Danilova, Ludmila L; Applegate, Carolyn D CD; Bolton, Stephen G SG; Mohr, David W DW; Brodsky, Robert A RA; Casella, James F JF; Greider, Carol W CW; Jackson, J Brooks JB; Armanios, Mary M

Publication Date: 2018-03-06

Variant appearance in text: TERT: Val170Met

PubMed Link: 29463756

Variant Present in the following documents:

• pnas.201720427SI.pdf

View BVdb publication page

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Genomes of Strongylocentrotus franciscanus and Lytechinus variegatus: are there any genomic explanations for the two order of magnitude difference in the lifespan of sea urchins?

Aging

Sergiev, Petr V PV; Artemov, Artem A AA; Prokhortchouk, Egor B EB; Dontsova, Olga A OA; Berezkin, Grigory V GV

Publication Date: 2016-02

Variant appearance in text: TERT: Val170Met

PubMed Link: 26851889

Variant Present in the following documents:

• Main text
• aging-08-260.pdf

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: TERT: V170M

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

View BVdb publication page

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Hepatopulmonary syndrome is a frequent cause of dyspnea in the short telomere disorders.

Chest

Gorgy, Amany I AI; Jonassaint, Naudia L NL; Stanley, Susan E SE; Koteish, Ayman A; DeZern, Amy E AE; Walter, Jolan E JE; Sopha, Sabrina C SC; Hamilton, James P JP; Hoover-Fong, Julie J; Chen, Allen R AR; Anders, Robert A RA; Kamel, Ihab R IR; Armanios, Mary M

Publication Date: 2015-10

Variant appearance in text: TERT: Val170Met

PubMed Link: 26158642

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: V170M

PubMed Link: 25244922

Variant Present in the following documents:

• Main text

View BVdb publication page

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