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: rs2296135

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2

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Genetic analysis of sinonasal undifferentiated carcinoma discovers recurrent SWI/SNF alterations and a novel PGAP3-SRPK1 fusion gene.

Bmc Cancer

Heft Neal, Molly E ME; Birkeland, Andrew C AC; Bhangale, Apurva D AD; Zhai, Jingyi J; Kulkarni, Aditi A; Foltin, Susan K SK; Jewell, Brittany M BM; Ludwig, Megan L ML; Pinatti, Lisa L; Jiang, Hui H; McHugh, Jonathan B JB; Marentette, Lawence L; McKean, Erin L EL; Brenner, J Chad JC

Publication Date: 2021-05-29

Variant appearance in text: rs2296135

PubMed Link: 34051734

Variant Present in the following documents:

• 12885_2021_8370_MOESM15_ESM.xlsx, sheet 1

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An intron variant of the GLI family zinc finger 3 (GLI3) gene differentiates resistance training-induced muscle fiber hypertrophy in younger men.

Faseb Journal : Official Publication Of The Federation Of American Societies For Experimental Biology

Vann, Christopher G CG; Morton, Robert W RW; Mobley, Christopher B CB; Vechetti, Ivan J IJ; Ferguson, Brian K BK; Haun, Cody T CT; Osburn, Shelby C SC; Sexton, Casey L CL; Fox, Carlton D CD; Romero, Matthew A MA; Roberson, Paul A PA; Oikawa, Sara Y SY; McGlory, Chris C; Young, Kaelin C KC; McCarthy, John J JJ; Phillips, Stuart M SM; Roberts, Michael D MD

Publication Date: 2021-05

Variant appearance in text: rs2296135

PubMed Link: 33891350

Variant Present in the following documents:

• Main text

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Identification of a nonsense mutation in TNNI3K associated with cardiac conduction disease.

Journal Of Clinical Laboratory Analysis

Liu, Jiang J; Liu, Da D; Li, Muzheng M; Wu, Keke K; Liu, Na N; Zhao, Chenyu C; Shi, Xiaoliu X; Liu, Qiming Q

Publication Date: 2020-09

Variant appearance in text: rs2296135

PubMed Link: 32529721

Variant Present in the following documents:

• JCLA-34-e23418-s003.xls, sheet 1

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Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology

Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P

Publication Date: 2018

Variant appearance in text: rs2296135

PubMed Link: 30319441

Variant Present in the following documents:

• Table_6.xlsx, sheet 1
• Table_7.xlsx, sheet 1

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Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget

Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH

Publication Date: 2017-11-10

Variant appearance in text: rs2296135

PubMed Link: 29221171

Variant Present in the following documents:

• oncotarget-08-95841-s002.xlsx, sheet 4
• oncotarget-08-95841-s002.xlsx, sheet 1

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Cancer Immunoprevention and Public Health.

Frontiers In Public Health

Singh, Sandeep K SK; Dorak, Mehmet Tevfik MT

Publication Date: 2017

Variant appearance in text: rs2296135

PubMed Link: 28534024

Variant Present in the following documents:

• Main text
• fpubh-05-00101.pdf

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Investigation of DNA repair-related SNPs underlying susceptibility to papillary thyroid carcinoma reveals MGMT as a novel candidate gene in Belarusian children exposed to radiation.

Bmc Cancer

Lonjou, Christine C; Damiola, Francesca F; Moissonnier, Monika M; Durand, Geoffroy G; Malakhova, Irina I; Masyakin, Vladimir V; Le Calvez-Kelm, Florence F; Cardis, Elisabeth E; Byrnes, Graham G; Kesminiene, Ausrele A; Lesueur, Fabienne F

Publication Date: 2017-05-12

Variant appearance in text: rs2296135

PubMed Link: 28499365

Variant Present in the following documents:

• 12885_2017_3314_MOESM1_ESM.xls, sheet 1

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Human Cytokine Genetic Variants Associated With HBsAg Reverse Seroconversion in Rituximab-Treated Non-Hodgkin Lymphoma Patients.

Medicine

Hsiao, Liang-Tsai LT; Wang, Hao-Yuan HY; Yang, Ching-Fen CF; Chiou, Tzeon-Jye TJ; Gau, Jyh-Pyng JP; Yu, Yuan-Bin YB; Liu, Hsiao-Ling HL; Chang, Wen-Chun WC; Chen, Po-Min PM; Tzeng, Cheng-Hwai CH; Chan, Yu-Jiun YJ; Yang, Muh-Hwa MH; Liu, Jin-Hwang JH; Huang, Yi-Hsiang YH

Publication Date: 2016-03

Variant appearance in text: rs2296135

PubMed Link: 26986131

Variant Present in the following documents:

• medi-95-e3064-s001.pdf

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Pharmacogenomics of estrogens on changes in carotid artery intima-medial thickness and coronary arterial calcification: Kronos Early Estrogen Prevention Study.

Physiological Genomics

Miller, Virginia M VM; Jenkins, Gregory D GD; Biernacka, Joanna M JM; Heit, John A JA; Huggins, Gordon S GS; Hodis, Howard N HN; Budoff, Matthew J MJ; Lobo, Rogerio A RA; Taylor, Hugh S HS; Manson, JoAnn E JE; Black, Dennis M DM; Naftolin, Frederick F; Harman, S Mitchell SM; de Andrade, Mariza M

Publication Date: 2016-01

Variant appearance in text: rs2296135

PubMed Link: 26508701

Variant Present in the following documents:

• Main text

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Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes.

Oncotarget

Keerthikumar, Shivakumar S; Gangoda, Lahiru L; Liem, Michael M; Fonseka, Pamali P; Atukorala, Ishara I; Ozcitti, Cemil C; Mechler, Adam A; Adda, Christopher G CG; Ang, Ching-Seng CS; Mathivanan, Suresh S

Publication Date: 2015-06-20

Variant appearance in text: rs2296135

PubMed Link: 25944692

Variant Present in the following documents:

• oncotarget-06-15375-s005.xlsx, sheet 2

View BVdb publication page

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Genome-wide association study combined with biological context can reveal more disease-related SNPs altering microRNA target seed sites.

Bmc Genomics

Wu, Di D; Yang, Gang G; Zhang, Lifang L; Xue, Jiwei J; Wen, Zhining Z; Li, Menglong M

Publication Date: 2014-08-08

Variant appearance in text: rs2296135

PubMed Link: 25106527

Variant Present in the following documents:

• Main text
• 12864_2014_Article_6678.pdf

View BVdb publication page

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Highlights from the functional single nucleotide polymorphisms associated with human muscle size and strength or FAMuSS study.

Biomed Research International

Pescatello, Linda S LS; Devaney, Joseph M JM; Hubal, Monica J MJ; Thompson, Paul D PD; Hoffman, Eric P EP

Publication Date: 2013

Variant appearance in text: rs2296135

PubMed Link: 24455711

Variant Present in the following documents:

• Main text
• BMRI2013-643575.pdf

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Application of multi-SNP approaches Bayesian LASSO and AUC-RF to detect main effects of inflammatory-gene variants associated with bladder cancer risk.

Plos One

de Maturana, Evangelina López EL; Ye, Yuanqing Y; Calle, M Luz ML; Rothman, Nathaniel N; Urrea, Víctor V; Kogevinas, Manolis M; Petrus, Sandra S; Chanock, Stephen J SJ; Tardón, Adonina A; García-Closas, Montserrat M; González-Neira, Anna A; Vellalta, Gemma G; Carrato, Alfredo A; Navarro, Arcadi A; Lorente-Galdós, Belén B; Silverman, Debra T DT; Real, Francisco X FX; Wu, Xifeng X; Malats, Núria N

Publication Date: 2013

Variant appearance in text: rs2296135

PubMed Link: 24391818

Variant Present in the following documents:

• Main text

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Cytokine and cytokine receptor genes of the adaptive immune response are differentially associated with breast cancer risk in American women of African and European ancestry.

International Journal Of Cancer

Quan, Lei L; Gong, Zhihong Z; Yao, Song S; Bandera, Elisa V EV; Zirpoli, Gary G; Hwang, Helena H; Roberts, Michelle M; Ciupak, Gregory G; Davis, Warren W; Sucheston, Lara L; Pawlish, Karen K; Bovbjerg, Dana H DH; Jandorf, Lina L; Cabasag, Citadel C; Coignet, Jean-Gabriel JG; Ambrosone, Christine B CB; Hong, Chi-Chen CC

Publication Date: 2014-03-15

Variant appearance in text: rs2296135

PubMed Link: 23996684

Variant Present in the following documents:

• Main text

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Genetic polymorphisms in IL10RA and TNF modify the association between blood transfusion and risk of non-Hodgkin lymphoma.

American Journal Of Hematology

Bi, Xiaofeng X; Zheng, Tongzhang T; Lan, Qing Q; Xu, Zhijian Z; Chen, Yingtai Y; Zhu, Gongjian G; Foss, Francine F; Kim, Christopher C; Dai, Min M; Zhao, Ping P; Holford, Theodore T; Leaderer, Brian B; Boyle, Peter P; Deng, Qian Q; Chanock, Stephen J SJ; Rothman, Nathaniel N; Zhang, Yawei Y

Publication Date: 2012-08

Variant appearance in text: rs2296135

PubMed Link: 22649007

Variant Present in the following documents:

• Main text

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Occupational solvent exposure, genetic variation in immune genes, and the risk for non-Hodgkin lymphoma.

European Journal Of Cancer Prevention : The Official Journal Of The European Cancer Prevention Organisation (Ecp)

Deng, Qian Q; Zheng, Tongzhang T; Lan, Qing Q; Lan, Yajia Y; Holford, Theodore T; Chen, Yingtai Y; Dai, Min M; Leaderer, Brian B; Boyle, Peter P; Chanock, Stephen J SJ; Rothman, Nathaniel N; Zhang, Yawei Y

Publication Date: 2013-01

Variant appearance in text: rs2296135

PubMed Link: 22609637

Variant Present in the following documents:

• Main text

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Polymorphisms in Th1/Th2 cytokine genes, hormone replacement therapy, and risk of non-Hodgkin lymphoma.

Frontiers In Oncology

Zhu, Gongjian G; Pan, Dongsheng D; Zheng, Tongzhang T; Lan, Qing Q; Chen, Xuezhong X; Chen, Yingtai Y; Kim, Christopher C; Bi, Xiaofeng X; Holford, Theodore T; Boyle, Peter P; Leaderer, Brian B; Chanock, Stephen J SJ; Rothman, Nathaniel N; Zhang, Yawei Y

Publication Date: 2011-07-28

Variant appearance in text: rs2296135

PubMed Link: 22180854

Variant Present in the following documents:

• Main text

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Polymorphisms in immune function genes and non-Hodgkin lymphoma survival.

Journal Of Cancer Survivorship : Research And Practice

Aschebrook-Kilfoy, Briseis B; Zheng, Tongzhang T; Foss, Francine F; Ma, Shuangge S; Han, Xuesong X; Lan, Qing Q; Holford, Theodore T; Chen, Yingtai Y; Leaderer, Brian B; Rothman, Nathaniel N; Zhang, Yawei Y

Publication Date: 2012-03

Variant appearance in text: rs2296135

PubMed Link: 22113576

Variant Present in the following documents:

• Main text

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A genetic predisposition score for muscular endophenotypes predicts the increase in aerobic power after training: the CAREGENE study.

Bmc Genetics

Thomaes, Tom T; Thomis, Martine M; Onkelinx, Steven S; Fagard, Robert R; Matthijs, Gert G; Buys, Roselien R; Schepers, Dirk D; Cornelissen, Véronique V; Vanhees, Luc L

Publication Date: 2011-10-03

Variant appearance in text: rs2296135

PubMed Link: 21967077

Variant Present in the following documents:

• Main text
• 1471-2156-12-84.pdf

View BVdb publication page

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Host genetics in follicular lymphoma.

Best Practice & Research. Clinical Haematology

Cerhan, James R JR

Publication Date: 2011-06

Variant appearance in text: rs2296135

PubMed Link: 21658613

Variant Present in the following documents:

• Main text

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Cytokine polymorphisms in Th1/Th2 pathway genes, body mass index, and risk of non-Hodgkin lymphoma.

Blood

Chen, Yingtai Y; Zheng, Tongzhang T; Lan, Qing Q; Foss, Francine F; Kim, Christopher C; Chen, Xuezhong X; Dai, Min M; Li, Yumin Y; Holford, Theodore T; Leaderer, Brian B; Boyle, Peter P; Chanock, Stephen J SJ; Rothman, Nathaniel N; Zhang, Yawei Y

Publication Date: 2011-01-13

Variant appearance in text: rs2296135

PubMed Link: 20952689

Variant Present in the following documents:

• Main text

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Cytokine and cytokine receptor single-nucleotide polymorphisms predict risk for non-small cell lung cancer among women.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology

Van Dyke, Alison L AL; Cote, Michele L ML; Wenzlaff, Angie S AS; Chen, Wei W; Abrams, Judith J; Land, Susan S; Giroux, Craig N CN; Schwartz, Ann G AG

Publication Date: 2009-06

Variant appearance in text: rs2296135

PubMed Link: 19505916

Variant Present in the following documents:

• Main text

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Cytokine SNPs: Comparison of allele frequencies by race and implications for future studies.

Cytokine

Van Dyke, Alison L AL; Cote, Michele L ML; Wenzlaff, Angie S AS; Land, Susan S; Schwartz, Ann G AG

Publication Date: 2009-05

Variant appearance in text: rs2296135

PubMed Link: 19356949

Variant Present in the following documents:

• Main text

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Organochlorine exposure, immune gene variation, and risk of non-Hodgkin lymphoma.

Blood

Colt, Joanne S JS; Rothman, Nathaniel N; Severson, Richard K RK; Hartge, Patricia P; Cerhan, James R JR; Chatterjee, Nilanjan N; Cozen, Wendy W; Morton, Lindsay M LM; De Roos, Anneclaire J AJ; Davis, Scott S; Chanock, Stephen S; Wang, Sophia S SS

Publication Date: 2009-02-26

Variant appearance in text: rs2296135

PubMed Link: 19066394

Variant Present in the following documents:

• Main text

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Host immune gene polymorphisms in combination with clinical and demographic factors predict late survival in diffuse large B-cell lymphoma patients in the pre-rituximab era.

Blood

Habermann, Thomas M TM; Wang, Sophia S SS; Maurer, Matthew J MJ; Morton, Lindsay M LM; Lynch, Charles F CF; Ansell, Stephen M SM; Hartge, Patricia P; Severson, Richard K RK; Rothman, Nathaniel N; Davis, Scott S; Geyer, Susan M SM; Cozen, Wendy W; Chanock, Stephen J SJ; Cerhan, James R JR

Publication Date: 2008-10-01

Variant appearance in text: rs2296135

PubMed Link: 18633131

Variant Present in the following documents:

• Main text

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Interleukin-15 and interleukin-15R alpha SNPs and associations with muscle, bone, and predictors of the metabolic syndrome.

Cytokine

Pistilli, Emidio E EE; Devaney, Joseph M JM; Gordish-Dressman, Heather H; Bradbury, Margaret K MK; Seip, Richard L RL; Thompson, Paul D PD; Angelopoulos, Theodore J TJ; Clarkson, Priscilla M PM; Moyna, Niall M NM; Pescatello, Linda S LS; Visich, Paul S PS; Zoeller, Robert F RF; Gordon, Paul M PM; Hoffman, Eric P EP

Publication Date: 2008-07

Variant appearance in text: rs2296135

PubMed Link: 18514540

Variant Present in the following documents:

• Main text

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Prognostic significance of host immune gene polymorphisms in follicular lymphoma survival.

Blood

Cerhan, James R JR; Wang, Sophia S; Maurer, Matthew J MJ; Ansell, Stephen M SM; Geyer, Susan M SM; Cozen, Wendy W; Morton, Lindsay M LM; Davis, Scott S; Severson, Richard K RK; Rothman, Nathaniel N; Lynch, Charles F CF; Wacholder, Sholom S; Chanock, Stephen J SJ; Habermann, Thomas M TM; Hartge, Patricia P

Publication Date: 2007-06-15

Variant appearance in text: rs2296135

PubMed Link: 17327408

Variant Present in the following documents:

• Main text

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Cytokine polymorphisms in the Th1/Th2 pathway and susceptibility to non-Hodgkin lymphoma.

Blood

Lan, Qing Q; Zheng, Tongzhang T; Rothman, Nathaniel N; Zhang, Yawei Y; Wang, Sophia S SS; Shen, Min M; Berndt, Sonja I SI; Zahm, Shelia H SH; Holford, Theodore R TR; Leaderer, Brian B; Yeager, Meredith M; Welch, Robert R; Boyle, Peter P; Zhang, Bing B; Zou, Kaiyong K; Zhu, Yong Y; Chanock, Stephen S

Publication Date: 2006-05-15

Variant appearance in text: rs2296135

PubMed Link: 16449530

Variant Present in the following documents:

• Main text

View BVdb publication page

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