Publications:

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Identifying Phased Mutations and Complex Rearrangements in Human Prostate Cancer Cell Lines through Linked-Read Whole-Genome Sequencing.

Molecular Cancer Research : Mcr

Pham, Minh-Tam MT; Gupta, Anuj A; Gupta, Harshath H; Vaghasia, Ajay A; Skaist, Alyza A; Garrison, McKinzie A MA; Coulter, Jonathan B JB; Haffner, Michael C MC; Zheng, S Lilly SL; Xu, Jianfeng J; DeStefano Shields, Christina C; Isaacs, William B WB; Wheelan, Sarah J SJ; Nelson, William G WG; Yegnasubramanian, Srinivasan S

Publication Date: 2022-07-06

Variant appearance in text: TERT: 2354C>T; P785L

PubMed Link: 35452513

Variant Present in the following documents:

• mcr-21-0683_supplementary_tables_1-13_suppst1-13.xlsx, sheet 7

View BVdb publication page

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Acquired somatic variants in inherited myeloid malignancies.

Leukemia

Armes, Hannah H; Rio-Machin, Ana A; Krizsán, Szilvia S; Bödör, Csaba C; Kaya, Fadimana F; Bewicke-Copley, Findlay F; Alnajar, Jenna J; Walne, Amanda A; Péterffy, Borbála B; Tummala, Hemanth H; Rouault-Pierre, Kevin K; Dokal, Inderjeet I; Vulliamy, Tom T; Fitzgibbon, Jude J

Publication Date: 2022-05

Variant appearance in text: TERT: Pro785Leu

PubMed Link: 35140362

Variant Present in the following documents:

• Main text
• 41375_2022_Article_1515.pdf
• 41375_2022_1515_MOESM3_ESM.xlsx, sheet 1
• 41375_2022_1515_MOESM3_ESM.xlsx, sheet 2
• 41375_2022_1515_MOESM1_ESM.pdf

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: 2354C>T; Pro785Leu

PubMed Link: 33709208

Variant Present in the following documents:

• 439_2021_2257_MOESM1_ESM.pdf

View BVdb publication page

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The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research

Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,

Publication Date: 2020-09

Variant appearance in text: TERT: 2354C>T; Pro785Leu

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

View BVdb publication page

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The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants.

Nature Communications

Rio-Machin, Ana A; Vulliamy, Tom T; Hug, Nele N; Walne, Amanda A; Tawana, Kiran K; Cardoso, Shirleny S; Ellison, Alicia A; Pontikos, Nikolas N; Wang, Jun J; Tummala, Hemanth H; Al Seraihi, Ahad Fahad H AFH; Alnajar, Jenna J; Bewicke-Copley, Findlay F; Armes, Hannah H; Barnett, Michael M; Bloor, Adrian A; Bödör, Csaba C; Bowen, David D; Fenaux, Pierre P; Green, Andrew A; Hallahan, Andrew A; Hjorth-Hansen, Henrik H; Hossain, Upal U; Killick, Sally S; Lawson, Sarah S; Layton, Mark M; Male, Alison M AM; Marsh, Judith J; Mehta, Priyanka P; Mous, Rogier R; Nomdedéu, Josep F JF; Owen, Carolyn C; Pavlu, Jiri J; Payne, Elspeth M EM; Protheroe, Rachel E RE; Preudhomme, Claude C; Pujol-Moix, Nuria N; Renneville, Aline A; Russell, Nigel N; Saggar, Anand A; Sciuccati, Gabriela G; Taussig, David D; Toze, Cynthia L CL; Uyttebroeck, Anne A; Vandenberghe, Peter P; Schlegelberger, Brigitte B; Ripperger, Tim T; Steinemann, Doris D; Wu, John J; Mason, Joanne J; Page, Paula P; Akiki, Susanna S; Reay, Kim K; Cavenagh, Jamie D JD; Plagnol, Vincent V; Caceres, Javier F JF; Fitzgibbon, Jude J; Dokal, Inderjeet I

Publication Date: 2020-02-25

Variant appearance in text: TERT: 2354C>T; Pro785Leu

PubMed Link: 32098966

Variant Present in the following documents:

• 41467_2020_14829_MOESM5_ESM.xlsx, sheet 1

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: 2354C>T; P785L

PubMed Link: 30523342

Variant Present in the following documents:

• 41436_2018_385_MOESM1_ESM.pdf

View BVdb publication page

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Multiple Mechanisms Contribute to the Cell Growth Defects Imparted by Human Telomerase Insertion in Fingers Domain Mutations Associated with Premature Aging Diseases.

The Journal Of Biological Chemistry

Chu, Tsz Wai TW; MacNeil, Deanna Elise DE; Autexier, Chantal C

Publication Date: 2016-04-15

Variant appearance in text: TERT: P785L

PubMed Link: 26887940

Variant Present in the following documents:

• Main text

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: P785L

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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Genetic Variations in Telomere Maintenance, with Implications on Tissue Renewal Capacity and Chronic Disease Pathologies.

Current Pharmacogenomics And Personalized Medicine

Trudeau, M A MA; Wong, J M Y JM

Publication Date: 2010-03-01

Variant appearance in text: TERT: P785L

PubMed Link: 21258621

Variant Present in the following documents:

• Main text

View BVdb publication page

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