Publications:

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Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports

Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-10-14

Variant appearance in text: FAM162B: Q71Q

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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Multi-omic machine learning predictor of breast cancer therapy response.

Nature

Sammut, Stephen-John SJ; Crispin-Ortuzar, Mireia M; Chin, Suet-Feung SF; Provenzano, Elena E; Bardwell, Helen A HA; Ma, Wenxin W; Cope, Wei W; Dariush, Ali A; Dawson, Sarah-Jane SJ; Abraham, Jean E JE; Dunn, Janet J; Hiller, Louise L; Thomas, Jeremy J; Cameron, David A DA; Bartlett, John M S JMS; Hayward, Larry L; Pharoah, Paul D PD; Markowetz, Florian F; Rueda, Oscar M OM; Earl, Helena M HM; Caldas, Carlos C

Publication Date: 2022-01

Variant appearance in text: FAM162B: 213G>A

PubMed Link: 34875674

Variant Present in the following documents:

• 41586_2021_4278_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

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Are long telomeres better than short? Relative contributions of genetically predicted telomere length to neoplastic and non-neoplastic disease risk and population health burden.

Plos One

Protsenko, Ekaterina E; Rehkopf, David D; Prather, Aric A AA; Epel, Elissa E; Lin, Jue J

Publication Date: 2020

Variant appearance in text: rs654128

PubMed Link: 33031470

Variant Present in the following documents:

• Main text
• pone.0240185.pdf

View BVdb publication page

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Genetic Determinants of Telomere Length in African American Youth.

Scientific Reports

Zeiger, Andrew M AM; White, Marquitta J MJ; Eng, Celeste C; Oh, Sam S SS; Witonsky, Jonathan J; Goddard, Pagé C PC; Contreras, Maria G MG; Elhawary, Jennifer R JR; Hu, Donglei D; Mak, Angel C Y ACY; Lee, Eunice Y EY; Keys, Kevin L KL; Samedy, Lesly-Anne LA; Risse-Adams, Oona O; Magaña, Joaquín J; Huntsman, Scott S; Salazar, Sandra S; Davis, Adam A; Meade, Kelley K; Brigino-Buenaventura, Emerita E; LeNoir, Michael A MA; Farber, Harold J HJ; Bibbins-Domingo, Kirsten K; Borrell, Luisa N LN; Burchard, Esteban G EG

Publication Date: 2018-09-05

Variant appearance in text: rs654128

PubMed Link: 30185882

Variant Present in the following documents:

• Main text
• 41598_2018_Article_31238.pdf

View BVdb publication page

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Significant SNPs Related to Telomere Length and Hepatocellular Carcinoma Risk in Chronic Hepatitis B Carriers

Asian Pacific Journal Of Cancer Prevention : Apjcp

Mohamadkhani, Ashraf A; Pourasgari, Masoumeh M; Poustchi, Hossein H

Publication Date: 2018-03-27

Variant appearance in text: rs654128

PubMed Link: 29579787

Variant Present in the following documents:

• Main text
• APJCP-19-585.pdf

View BVdb publication page

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Association between Genetic Variations Affecting Mean Telomere Length and the Prevalence of Hypertension and Coronary Heart Disease in Koreans.

Clinical Nutrition Research

Paik, Jean Kyung JK; Kang, Ryungwoo R; Cho, Yoonsu Y; Shin, Min-Jeong MJ

Publication Date: 2016-10

Variant appearance in text: rs654128

PubMed Link: 27812514

Variant Present in the following documents:

• Main text
• cnr-5-249.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: rs654128

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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Replication of the results of genome-wide and candidate gene association studies on telomere length in a Korean population.

The Korean Journal Of Internal Medicine

Do, Sook Kyung SK; Yoo, Seung Soo SS; Choi, Yi Young YY; Choi, Jin Eun JE; Jeon, Hyo-Sung HS; Lee, Won Kee WK; Lee, Shin Yup SY; Lee, Jaehee J; Cha, Seung Ick SI; Kim, Chang Ho CH; Park, Jae Yong JY

Publication Date: 2015-09

Variant appearance in text: rs654128

PubMed Link: 26354067

Variant Present in the following documents:

• Main text
• kjim-30-5-719.pdf

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Leukocyte telomere length-related rs621559 and rs398652 genetic variants influence risk of HBV-related hepatocellular carcinoma.

Plos One

Pan, Wenting W; Cheng, Guangxia G; Xing, Huaixin H; Shi, Juan J; Lu, Chao C; Wei, Jinyu J; Li, Lichao L; Zhou, Changchun C; Yuan, Qipeng Q; Zhou, Liqing L; Yang, Ming M

Publication Date: 2014

Variant appearance in text: rs654128

PubMed Link: 25365256

Variant Present in the following documents:

• Main text
• pone.0110863.pdf

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Genetic variant rs401681 at 5p15.33 modifies susceptibility to lung cancer but not esophageal squamous cell carcinoma.

Plos One

Jiang, Man M; Wu, Haijian H; Qin, Chengyong C

Publication Date: 2013

Variant appearance in text: rs654128

PubMed Link: 24386361

Variant Present in the following documents:

• Main text
• pone.0084277.pdf

View BVdb publication page

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A genome-wide association study identifies a locus on chromosome 14q21 as a predictor of leukocyte telomere length and as a marker of susceptibility for bladder cancer.

Cancer Prevention Research (Philadelphia, Pa.)

Gu, Jian J; Chen, Meng M; Shete, Sanjay S; Amos, Christopher I CI; Kamat, Ashish A; Ye, Yuanqing Y; Lin, Jie J; Dinney, Colin P CP; Wu, Xifeng X

Publication Date: 2011-04

Variant appearance in text: rs654128

PubMed Link: 21460395

Variant Present in the following documents:

• Main text

View BVdb publication page

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