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: Lys570Asn

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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High-throughput STELA provides a rapid test for the diagnosis of telomere biology disorders.

Human Genetics

Norris, Kevin K; Walne, Amanda J AJ; Ponsford, Mark J MJ; Cleal, Kez K; Grimstead, Julia W JW; Ellison, Alicia A; Alnajar, Jenna J; Dokal, Inderjeet I; Vulliamy, Tom T; Baird, Duncan M DM

Publication Date: 2021-06

Variant appearance in text: TERT: 1710G>C; Lys570Asn

PubMed Link: 33709208

Variant Present in the following documents:

• 439_2021_2257_MOESM1_ESM.pdf

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Clinical and functional characterization of telomerase variants in patients with pediatric acute myeloid leukemia/myelodysplastic syndrome.

Leukemia

Tomlinson, Christopher G CG; Sasa, Ghadir G; Aubert, Geraldine G; Martin-Giacalone, Bailey B; Plon, Sharon E SE; Bryan, Tracy M TM; Bertuch, Alison A AA; Gramatges, Maria M MM

Publication Date: 2021-01

Variant appearance in text: TERT: K570N

PubMed Link: 32313107

Variant Present in the following documents:

• Main text

View BVdb publication page

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Rare Protein-Altering Telomere-related Gene Variants in Patients with Chronic Hypersensitivity Pneumonitis.

American Journal Of Respiratory And Critical Care Medicine

Ley, Brett B; Torgerson, Dara G DG; Oldham, Justin M JM; Adegunsoye, Ayodeji A; Liu, Shuo S; Li, Jie J; Elicker, Brett M BM; Henry, Travis S TS; Golden, Jeffrey A JA; Jones, Kirk D KD; Dressen, Amy A; Yaspan, Brian L BL; Arron, Joseph R JR; Noth, Imre I; Hoffmann, Thomas J TJ; Wolters, Paul J PJ

Publication Date: 2019-11-01

Variant appearance in text: TERT: K570N

PubMed Link: 31268371

Variant Present in the following documents:

• Main text

View BVdb publication page

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Development of a Novel Next-Generation Sequencing Assay for Carrier Screening in Old Order Amish and Mennonite Populations of Pennsylvania.

The Journal Of Molecular Diagnostics : Jmd

Crowgey, Erin L EL; Washburn, Michael C MC; Kolb, E Anders EA; Puffenberger, Erik G EG

Publication Date: 2019-07

Variant appearance in text: TERT: 1710G>C; Lys570Asn

PubMed Link: 31028937

Variant Present in the following documents:

• mmc1.xlsx, sheet 1

View BVdb publication page

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The Spectrum of Hepatic Involvement in Patients With Telomere Disease.

Hepatology (Baltimore, Md.)

Kapuria, Devika D; Ben-Yakov, Gil G; Ortolano, Rebecca R; Cho, Min Ho MH; Kalchiem-Dekel, Or O; Takyar, Varun V; Lingala, Shilpa S; Gara, Naveen N; Tana, Michele M; Kim, Yun Ju YJ; Kleiner, David E DE; Young, Neal S NS; Townsley, Danielle M DM; Koh, Christopher C; Heller, Theo T

Publication Date: 2019-06

Variant appearance in text: TERT: 1710G>C; Lys570Asn

PubMed Link: 30791107

Variant Present in the following documents:

• Main text

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: 1710G>C; K570N

PubMed Link: 30523342

Variant Present in the following documents:

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

View BVdb publication page

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Somatic mutations in telomerase promoter counterbalance germline loss-of-function mutations.

The Journal Of Clinical Investigation

Maryoung, Lindley L; Yue, Yangbo Y; Young, Ashley A; Newton, Chad A CA; Barba, Cindy C; van Oers, Nicolai S C NS; Wang, Richard C RC; Garcia, Christine Kim CK

Publication Date: 2017-03-01

Variant appearance in text: N/A

PubMed Link: 28192371

Variant Present in the following documents:

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: K570N

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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Triallelic and epigenetic-like inheritance in human disorders of telomerase.

Blood

Collopy, Laura C LC; Walne, Amanda J AJ; Cardoso, Shirleny S; de la Fuente, Josu J; Mohamed, Mahfuzah M; Toriello, Helga H; Tamary, Hannah H; Ling, Adam J Y V AJ; Lloyd, Timothy T; Kassam, Rebecca R; Tummala, Hemanth H; Vulliamy, Thomas J TJ; Dokal, Inderjeet I

Publication Date: 2015-07-09

Variant appearance in text: TERT: 1710G>C; Lys570Asn

PubMed Link: 26024875

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: K570N

PubMed Link: 23901009

Variant Present in the following documents:

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

View BVdb publication page

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A homozygous telomerase T-motif variant resulting in markedly reduced repeat addition processivity in siblings with Hoyeraal Hreidarsson syndrome.

Blood

Gramatges, Maria M MM; Qi, Xiaodong X; Sasa, Ghadir S GS; Chen, Julian J-L JJ; Bertuch, Alison A AA

Publication Date: 2013-05-02

Variant appearance in text: N/A

PubMed Link: 23538340

Variant Present in the following documents:

View BVdb publication page

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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: K570N

PubMed Link: 21323862

Variant Present in the following documents:

• Main text
• jcmm0015-0457.pdf

View BVdb publication page

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A spectrum of severe familial liver disorders associate with telomerase mutations.

Plos One

Calado, Rodrigo T RT; Regal, Joshua A JA; Kleiner, David E DE; Schrump, David S DS; Peterson, Nathan R NR; Pons, Veronica V; Chanock, Stephen J SJ; Lansdorp, Peter M PM; Young, Neal S NS

Publication Date: 2009-11-20

Variant appearance in text: N/A

PubMed Link: 19936245

Variant Present in the following documents:

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Erosion of telomeric single-stranded overhang in patients with aplastic anaemia carrying telomerase complex mutations.

European Journal Of Clinical Investigation

Calado, R T RT; Regal, J A JA; Kajigaya, S S; Young, N S NS

Publication Date: 2009-11

Variant appearance in text: TERT: K570N

PubMed Link: 19674077

Variant Present in the following documents:

• Main text

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Constitutional hypomorphic telomerase mutations in patients with acute myeloid leukemia.

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

Calado, Rodrigo T RT; Regal, Joshua A JA; Hills, Mark M; Yewdell, William T WT; Dalmazzo, Leandro F LF; Zago, Marco A MA; Lansdorp, Peter M PM; Hogge, Donna D; Chanock, Stephen J SJ; Estey, Elihu H EH; Falcão, Roberto P RP; Young, Neal S NS

Publication Date: 2009-01-27

Variant appearance in text: N/A

PubMed Link: 19147845

Variant Present in the following documents:

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