Publications:

---

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: 1892G>A; Arg631Gln

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

---

Molecular genetics of idiopathic pulmonary fibrosis.

Vavilovskii Zhurnal Genetiki I Selektsii

Mustafin, R N RN

Publication Date: 2022-05

Variant appearance in text: TERT: 1892G>A

PubMed Link: 35795226

Variant Present in the following documents:

• VJGB-26-2237.pdf

View BVdb publication page

---

Growth factor independence underpins a paroxysmal, aggressive Wnt5aHigh/EphA2Low phenotype in glioblastoma stem cells, conducive to experimental combinatorial therapy.

Journal Of Experimental & Clinical Cancer Research : Cr

Trivieri, Nadia N; Visioli, Alberto A; Mencarelli, Gandino G; Cariglia, Maria Grazia MG; Marongiu, Laura L; Pracella, Riccardo R; Giani, Fabrizio F; Soriano, Amata Amy AA; Barile, Chiara C; Cajola, Laura L; Copetti, Massimiliano M; Palumbo, Orazio O; Legnani, Federico F; DiMeco, Francesco F; Gorgoglione, Leonardo L; Vescovi, Angelo L AL; Binda, Elena E

Publication Date: 2022-04-12

Variant appearance in text: TERT: R631Q; rs199422294

PubMed Link: 35414102

Variant Present in the following documents:

• 13046_2022_2333_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

---

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: Arg631Gln

PubMed Link: 35140362

Variant Present in the following documents:

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

View BVdb publication page

---

Hematopoiesis under telomere attrition at the single-cell resolution.

Nature Communications

Thongon, Natthakan N; Ma, Feiyang F; Santoni, Andrea A; Marchesini, Matteo M; Fiorini, Elena E; Rose, Ashley A; Adema, Vera V; Ganan-Gomez, Irene I; Groarke, Emma M EM; Gutierrez-Rodrigues, Fernanda F; Chen, Shuaitong S; Lockyer, Pamela P; Schneider, Sarah S; Bueso-Ramos, Carlos C; Montalban-Bravo, Guillermo G; Class, Caleb A CA; Soltysiak, Kelly A KA; Pellegrini, Matteo M; Sahin, Ergun E; Bertuch, Alison A AA; DiNardo, Courtney D CD; Garcia-Manero, Guillermo G; Young, Neal S NS; Dwyer, Karen K; Colla, Simona S

Publication Date: 2021-11-25

Variant appearance in text: TERT: 1892G>A

PubMed Link: 34824242

Variant Present in the following documents:

• 41467_2021_27206_MOESM19_ESM.pdf
• 41467_2021_27206_MOESM1_ESM.pdf

View BVdb publication page

---

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: 1892G>A; Arg631Gln

PubMed Link: 33709208

Variant Present in the following documents:

• 439_2021_2257_MOESM1_ESM.pdf

View BVdb publication page

---

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: 1892G>A; Arg631Gln

PubMed Link: 32098966

Variant Present in the following documents:

• 41467_2020_14829_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

---

Structural, functional, and stability change predictions in human telomerase upon specific point mutations.

Scientific Reports

Kalathiya, U U; Padariya, M M; Baginski, M M

Publication Date: 2019-06-18

Variant appearance in text: TERT: R631Q

PubMed Link: 31213647

Variant Present in the following documents:

• Main text
• 41598_2019_Article_45206.pdf
• 41598_2019_45206_MOESM1_ESM.pdf

View BVdb publication page

---

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: rs199422294

PubMed Link: 29771920

Variant Present in the following documents:

• Main text
• pone.0195963.pdf

View BVdb publication page

---

Novel variants in Nordic patients referred for genetic testing of telomere-related disorders.

European Journal Of Human Genetics : Ejhg

Norberg, Anna A; Rosén, Anna A; Raaschou-Jensen, Klas K; Kjeldsen, Lars L; Moilanen, Jukka S JS; Paulsson-Karlsson, Ylva Y; Baliakas, Panagiotis P; Lohi, Olli O; Ahmed, Aymen A; Kittang, Astrid O AO; Larsson, Pär P; Roos, Göran G; Degerman, Sofie S; Hultdin, Magnus M

Publication Date: 2018-06

Variant appearance in text: TERT: 1892G>A; R631Q

PubMed Link: 29483670

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: 1892G>A; Arg631Gln

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

---

Pleuroparenchymal fibroelastosis associated with telomerase reverse transcriptase mutations.

The European Respiratory Journal

Newton, Chad A CA; Batra, Kiran K; Torrealba, Jose J; Meyer, Keith K; Raghu, Ganesh G; Garcia, Christine Kim CK

Publication Date: 2017-05

Variant appearance in text: TERT: 1892G>A; Arg631Gln

PubMed Link: 28495683

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: TERT: Arg631Gln

PubMed Link: 28192371

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Telomere-related lung fibrosis is diagnostically heterogeneous but uniformly progressive.

The European Respiratory Journal

Newton, Chad A CA; Batra, Kiran K; Torrealba, Jose J; Kozlitina, Julia J; Glazer, Craig S CS; Aravena, Carlos C; Meyer, Keith K; Raghu, Ganesh G; Collard, Harold R HR; Garcia, Christine Kim CK

Publication Date: 2016-12

Variant appearance in text: TERT: Arg631Gln

PubMed Link: 27540018

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: Arg631Gln

PubMed Link: 26851889

Variant Present in the following documents:

• Main text
• aging-08-260.pdf

View BVdb publication page

---

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: R631Q

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

View BVdb publication page

---

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: 1892G>A; Arg631Gln

PubMed Link: 26024875

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: R631Q

PubMed Link: 25244922

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: R631Q

PubMed Link: 25192356

Variant Present in the following documents:

• Main text
• pone.0106744.pdf

View BVdb publication page

---

A Newfoundland cohort of familial and sporadic idiopathic pulmonary fibrosis patients: clinical and genetic features.

Respiratory Research

Fernandez, Bridget A BA; Fox, George G; Bhatia, Rick R; Sala, Eric E; Noble, Barbara B; Denic, Nash N; Fernandez, Dzintra D; Duguid, Nigel N; Dohey, Amanda A; Kamel, Fady F; Edwards, Laura L; Mahoney, Krista K; Stuckless, Susan S; Parfrey, Patrick S PS; Woods, Michael O MO

Publication Date: 2012-08-01

Variant appearance in text: TERT: 1892G>A; Arg631Gln

PubMed Link: 22853774

Variant Present in the following documents:

• Main text
• 1465-9921-13-64.pdf

View BVdb publication page

---

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: R631Q

PubMed Link: 21258621

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Telomere lengths, pulmonary fibrosis and telomerase (TERT) mutations.

Plos One

Diaz de Leon, Alberto A; Cronkhite, Jennifer T JT; Katzenstein, Anna-Luise A AL; Godwin, J David JD; Raghu, Ganesh G; Glazer, Craig S CS; Rosenblatt, Randall L RL; Girod, Carlos E CE; Garrity, Edward R ER; Xing, Chao C; Garcia, Christine Kim CK

Publication Date: 2010-05-19

Variant appearance in text: TERT: R631Q

PubMed Link: 20502709

Variant Present in the following documents:

• Main text
• pone.0010680.pdf

View BVdb publication page

---