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: 164T>A; Leu55Gln

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Genetic Risk Factors for Idiopathic Pulmonary Fibrosis: Insights into Immunopathogenesis.

Journal Of Inflammation Research

Michalski, Jacob E JE; Schwartz, David A DA

Publication Date: 2020

Variant appearance in text: TERT: L55Q

PubMed Link: 33447070

Variant Present in the following documents:

• Main text
• jir-13-1305.pdf

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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: Leu55Gln

PubMed Link: 31426295

Variant Present in the following documents:

• Main text
• jcm-08-01232.pdf

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Maternal human telomerase reverse transcriptase variants are associated with preterm labor and preterm premature rupture of membranes.

Plos One

Marrs, Caroline C; Chesmore, Kevin K; Menon, Ramkumar R; Williams, Scott S

Publication Date: 2018

Variant appearance in text: rs387907247

PubMed Link: 29771920

Variant Present in the following documents:

• Main text
• pone.0195963.pdf

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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: Leu55Gln

PubMed Link: 29463756

Variant Present in the following documents:

• pnas.201720427SI.pdf

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Sources of discordance among germ-line variant classifications in ClinVar.

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

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: TERT: 164T>A; Leu55Gln

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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: L55Q

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

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Identification of human TERT elements necessary for telomerase recruitment to telomeres.

Elife

Schmidt, Jens C JC; Dalby, Andrew B AB; Cech, Thomas R TR

Publication Date: 2014-10-01

Variant appearance in text: TERT: L55Q

PubMed Link: 25271372

Variant Present in the following documents:

• Main text
• elife03563.pdf

View BVdb publication page

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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: L55Q

PubMed Link: 25192356

Variant Present in the following documents:

• Main text
• pone.0106744.pdf

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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: L55Q

PubMed Link: 23901009

Variant Present in the following documents:

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

View BVdb publication page

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Ancestral mutation in telomerase causes defects in repeat addition processivity and manifests as familial pulmonary fibrosis.

Plos Genetics

Alder, Jonathan K JK; Cogan, Joy D JD; Brown, Andrew F AF; Anderson, Collin J CJ; Lawson, William E WE; Lansdorp, Peter M PM; Phillips, John A JA; Loyd, James E JE; Chen, Julian J-L JJ; Armanios, Mary M

Publication Date: 2011-03

Variant appearance in text: TERT: L55Q

PubMed Link: 21483807

Variant Present in the following documents:

• Main text
• pgen.1001352.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: L55Q

PubMed Link: 21323862

Variant Present in the following documents:

• Main text

View BVdb publication page

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Investigation of human telomerase holoenzyme assembly, activity, and processivity using disease-linked subunit variants.

The Journal Of Biological Chemistry

Robart, Aaron R AR; Collins, Kathleen K

Publication Date: 2010-02-12

Variant appearance in text: TERT: L55Q

PubMed Link: 20022961

Variant Present in the following documents:

• Main text

View BVdb publication page

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