Publications:

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Polygenic basis and biomedical consequences of telomere length variation.

Nature Genetics

Codd, Veryan V; Wang, Qingning Q; Allara, Elias E; Musicha, Crispin C; Kaptoge, Stephen S; Stoma, Svetlana S; Jiang, Tao T; Hamby, Stephen E SE; Braund, Peter S PS; Bountziouka, Vasiliki V; Budgeon, Charley A CA; Denniff, Matthew M; Swinfield, Chloe C; Papakonstantinou, Manolo M; Sheth, Shilpi S; Nanus, Dominika E DE; Warner, Sophie C SC; Wang, Minxian M; Khera, Amit V AV; Eales, James J; Ouwehand, Willem H WH; Thompson, John R JR; Di Angelantonio, Emanuele E; Wood, Angela M AM; Butterworth, Adam S AS; Danesh, John N JN; Nelson, Christopher P CP; Samani, Nilesh J NJ

Publication Date: 2021-10

Variant appearance in text: rs34094720

PubMed Link: 34611362

Variant Present in the following documents:

• 41588_2021_944_MOESM3_ESM.pdf

View BVdb publication page

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Polygenic basis and biomedical consequences of telomere length variation.

Nature Genetics

Codd, Veryan V; Wang, Qingning Q; Allara, Elias E; Musicha, Crispin C; Kaptoge, Stephen S; Stoma, Svetlana S; Jiang, Tao T; Hamby, Stephen E SE; Braund, Peter S PS; Bountziouka, Vasiliki V; Budgeon, Charley A CA; Denniff, Matthew M; Swinfield, Chloe C; Papakonstantinou, Manolo M; Sheth, Shilpi S; Nanus, Dominika E DE; Warner, Sophie C SC; Wang, Minxian M; Khera, Amit V AV; Eales, James J; Ouwehand, Willem H WH; Thompson, John R JR; Di Angelantonio, Emanuele E; Wood, Angela M AM; Butterworth, Adam S AS; Danesh, John N JN; Nelson, Christopher P CP; Samani, Nilesh J NJ

Publication Date: 2021-10

Variant appearance in text: rs34094720

PubMed Link: 34611362

Variant Present in the following documents:

• 41588_2021_944_MOESM3_ESM.pdf

View BVdb publication page

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Whole exome sequencing analysis in severe chronic obstructive pulmonary disease.

Human Molecular Genetics

Qiao, Dandi D; Ameli, Asher A; Prokopenko, Dmitry D; Chen, Han H; Kho, Alvin T AT; Parker, Margaret M MM; Morrow, Jarrett J; Hobbs, Brian D BD; Liu, Yanhong Y; Beaty, Terri H TH; Crapo, James D JD; Barnes, Kathleen C KC; Nickerson, Deborah A DA; Bamshad, Michael M; Hersh, Craig P CP; Lomas, David A DA; Agusti, Alvar A; Make, Barry J BJ; Calverley, Peter M A PMA; Donner, Claudio F CF; Wouters, Emiel F EF; Vestbo, Jørgen J; Paré, Peter D PD; Levy, Robert D RD; Rennard, Stephen I SI; Tal-Singer, Ruth R; Spitz, Margaret R MR; Sharma, Amitabh A; Ruczinski, Ingo I; Lange, Christoph C; Silverman, Edwin K EK; Cho, Michael H MH

Publication Date: 2018-11-01

Variant appearance in text: rs34094720

PubMed Link: 30060175

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: rs34094720

PubMed Link: 29771920

Variant Present in the following documents:

• Main text
• pone.0195963.pdf

View BVdb publication page

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Multi-omics of 34 colorectal cancer cell lines - a resource for biomedical studies.

Molecular Cancer

Berg, Kaja C G KCG; Eide, Peter W PW; Eilertsen, Ina A IA; Johannessen, Bjarne B; Bruun, Jarle J; Danielsen, Stine A SA; Bjørnslett, Merete M; Meza-Zepeda, Leonardo A LA; Eknæs, Mette M; Lind, Guro E GE; Myklebost, Ola O; Skotheim, Rolf I RI; Sveen, Anita A; Lothe, Ragnhild A RA

Publication Date: 2017-07-06

Variant appearance in text: rs34094720

PubMed Link: 28683746

Variant Present in the following documents:

• 12943_2017_691_MOESM1_ESM.xlsx, sheet 5

View BVdb publication page

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Telomerase reverse transcriptase germline mutations and hepatocellular carcinoma in patients with nonalcoholic fatty liver disease.

Cancer Medicine

Donati, Benedetta B; Pietrelli, Alessandro A; Pingitore, Piero P; Dongiovanni, Paola P; Caddeo, Andrea A; Walker, Lucy L; Baselli, Guido G; Pelusi, Serena S; Rosso, Chiara C; Vanni, Ester E; Daly, Ann A; Mancina, Rosellina Margherita RM; Grieco, Antonio A; Miele, Luca L; Grimaudo, Stefania S; Craxi, Antonio A; Petta, Salvatore S; De Luca, Laura L; Maier, Silvia S; Soardo, Giorgio G; Bugianesi, Elisabetta E; Colli, Fabio F; Romagnoli, Renato R; Anstee, Quentin M QM; Reeves, Helen L HL; Fracanzani, Anna Ludovica AL; Fargion, Silvia S; Romeo, Stefano S; Valenti, Luca L

Publication Date: 2017-08

Variant appearance in text: rs34094720

PubMed Link: 28677271

Variant Present in the following documents:

View BVdb publication page

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The Qatar genome: a population-specific tool for precision medicine in the Middle East.

Human Genome Variation

Fakhro, Khalid A KA; Staudt, Michelle R MR; Ramstetter, Monica Denise MD; Robay, Amal A; Malek, Joel A JA; Badii, Ramin R; Al-Marri, Ajayeb Al-Nabet AA; Abi Khalil, Charbel C; Al-Shakaki, Alya A; Chidiac, Omar O; Stadler, Dora D; Zirie, Mahmoud M; Jayyousi, Amin A; Salit, Jacqueline J; Mezey, Jason G JG; Crystal, Ronald G RG; Rodriguez-Flores, Juan L JL

Publication Date: 2016

Variant appearance in text: rs34094720

PubMed Link: 27408750

Variant Present in the following documents:

View BVdb publication page

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Brief Report: Whole-Exome Sequencing for Identification of Potential Causal Variants for Diffuse Cutaneous Systemic Sclerosis.

Arthritis & Rheumatology (Hoboken, N.J.)

Mak, Angel C Y AC; Tang, Paul L F PL; Cleveland, Clare C; Smith, Melanie H MH; Kari Connolly, M M; Katsumoto, Tamiko R TR; Wolters, Paul J PJ; Kwok, Pui-Yan PY; Criswell, Lindsey A LA

Publication Date: 2016-09

Variant appearance in text: rs34094720

PubMed Link: 27111861

Variant Present in the following documents:

• Main text

View BVdb publication page

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Characterization of population-based variation and putative functional elements for the multiple-cancer susceptibility loci at 5p15.33.

F1000Research

Mirabello, Lisa L; Chung, Charles C CC; Yeager, Meredith M; Savage, Sharon A SA

Publication Date: 2014

Variant appearance in text: rs34094720

PubMed Link: 26664699

Variant Present in the following documents:

• Main text
• f1000research-3-5532.pdf

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs34094720

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Population genomic analysis of 962 whole genome sequences of humans reveals natural selection in non-coding regions.

Plos One

Yu, Fuli F; Lu, Jian J; Liu, Xiaoming X; Gazave, Elodie E; Chang, Diana D; Raj, Srilakshmi S; Hunter-Zinck, Haley H; Blekhman, Ran R; Arbiza, Leonardo L; Van Hout, Cris C; Morrison, Alanna A; Johnson, Andrew D AD; Bis, Joshua J; Cupples, L Adrienne LA; Psaty, Bruce M BM; Muzny, Donna D; Yu, Jin J; Gibbs, Richard A RA; Keinan, Alon A; Clark, Andrew G AG; Boerwinkle, Eric E

Publication Date: 2015

Variant appearance in text: rs34094720

PubMed Link: 25807536

Variant Present in the following documents:

• pone.0121644.s002.xls, sheet 1

View BVdb publication page

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Telomere length in myelodysplastic syndromes.

Leukemia & Lymphoma

Rollison, Dana E DE; Epling-Burnette, P K PK; Park, Jong Y JY; Lee, Ji-Hyun JH; Park, Hyun H; Jonathan, Kristen K; Cole, Ashley L AL; Painter, Jeffrey S JS; Guerrier, Mayenha M; Meléndez-Santiago, Johana J; Fulp, William W; Komrokji, Rami R; Lancet, Jeffrey J; List, Alan F AF

Publication Date: 2011-08

Variant appearance in text: rs34094720

PubMed Link: 21635204

Variant Present in the following documents:

• Main text

View BVdb publication page

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