Publications:

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Integrative proteogenomic characterization of early esophageal cancer.

Nature Communications

Li, Lingling L; Jiang, Dongxian D; Zhang, Qiao Q; Liu, Hui H; Xu, Fujiang F; Guo, Chunmei C; Qin, Zhaoyu Z; Wang, Haixing H; Feng, Jinwen J; Liu, Yang Y; Chen, Weijie W; Zhang, Xue X; Bai, Lin L; Tian, Sha S; Tan, Subei S; Xu, Chen C; Song, Qi Q; Liu, Yalan Y; Zhong, Yunshi Y; Chen, Tianyin T; Zhou, Pinghong P; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C

Publication Date: 2023-03-25

Variant appearance in text: EPHX1: N357N; rs1051741

PubMed Link: 36966136

Variant Present in the following documents:

• 41467_2023_37440_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

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Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem

Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS

Publication Date: 2022-11

Variant appearance in text: EPHX1: N357N; rs1051741

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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JAK-STAT signaling in inflammatory breast cancer enables chemotherapy-resistant cell states.

Cancer Research

Stevens, Laura E LE; Peluffo, Guillermo G; Qiu, Xintao X; Temko, Daniel D; Fassl, Anne A; Li, Zheqi Z; Trinh, Anne A; Seehawer, Marco M; Jovanovic, Bojana B; Aleckovic, Masa M; Wilde, Callahan M CM; Geck, Renee C RC; Shu, Shaokun S; Kingston, Natalie L NL; Harper, Nicholas W NW; Almendro, Vanessa V; Pyke, Alanna L AL; Egri, Shawn B SB; Papanastasiou, Malvina M; Clement, Kendell K; Zhou, Ningxuan N; Walker, Sarah S; Salas, Jacqueline J; Park, So Yeon SY; Frank, David A DA; Meissner, Alexander A; Jaffe, Jacob D JD; Sicinski, Piotr P; Toker, Alex A; Michor, Franziska F; Long, Henry W HW; Overmoyer, Beth A BA; Polyak, Kornelia K

Publication Date: 2022-11-21

Variant appearance in text: EPHX1: 1071C>T; N357N; rs1051741

PubMed Link: 36409824

Variant Present in the following documents:

• can-22-0423_supplementary_table_s3_suppst3.xlsx, sheet 1

View BVdb publication page

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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: EPHX1: N357N

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM8_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM9_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2

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Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.

Npj Parkinson'S Disease

Cukier, Holly N HN; Kim, Hyunjin H; Griswold, Anthony J AJ; Codreanu, Simona G SG; Prince, Lisa M LM; Sherrod, Stacy D SD; McLean, John A JA; Dykxhoorn, Derek M DM; Ess, Kevin C KC; Hedera, Peter P; Bowman, Aaron B AB; Neely, M Diana MD

Publication Date: 2022-06-29

Variant appearance in text: EPHX1: N357N; rs1051741

PubMed Link: 35768426

Variant Present in the following documents:

• 41531_2022_346_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Comprehensive analysis of important pharmacogenes in Koreans using the DMET™ platform.

Translational And Clinical Pharmacology

Kim, Byungwook B; Yoon, Deok Yong DY; Lee, SeungHwan S; Jang, In-Jin IJ; Yu, Kyung-Sang KS; Cho, Joo-Youn JY; Oh, Jaeseong J

Publication Date: 2021-09

Variant appearance in text: EPHX1: 1071C>T; N357N; rs1051741

PubMed Link: 34621706

Variant Present in the following documents:

• tcp-29-135-s001.xls, sheet 1

View BVdb publication page

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The effects of genetic polymorphisms on benzene-exposed workers: A systematic review.

Health Science Reports

Ramírez-Lopera, Verónica V; Uribe-Castro, Daniel D; Bautista-Amorocho, Henry H; Silva-Sayago, Jorge Alexander JA; Mateus-Sánchez, Enrique E; Ardila-Barbosa, Wilman Yesid WY; Pérez-Cala, Tania Liseth TL

Publication Date: 2021-09

Variant appearance in text: rs1051741

PubMed Link: 34295994

Variant Present in the following documents:

• Main text
• HSR2-4-e327.pdf

View BVdb publication page

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The effect on congenital heart diseases of maternal EPHX1 polymorphisms modified by polycyclic aromatic hydrocarbons exposure.

Medicine

Tao, Jing J; Li, Nana N; Liu, Zhen Z; Deng, Ying Y; Li, Xiaohong X; Chen, Ming M; Yu, Jing J; Zhu, Jun J; Yu, Ping P; Wang, Yanping Y

Publication Date: 2019-07

Variant appearance in text: rs1051741

PubMed Link: 31348278

Variant Present in the following documents:

• Main text
• medi-98-e16556.pdf

View BVdb publication page

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A pan-cancer analysis of synonymous mutations.

Nature Communications

Sharma, Yogita Y; Miladi, Milad M; Dukare, Sandeep S; Boulay, Karine K; Caudron-Herger, Maiwen M; Groß, Matthias M; Backofen, Rolf R; Diederichs, Sven S

Publication Date: 2019-06-12

Variant appearance in text: EPHX1: 1071C>T

PubMed Link: 31189880

Variant Present in the following documents:

• 41467_2019_10489_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Multiple genetic mutations caused by NKX6.3 depletion contribute to gastric tumorigenesis.

Scientific Reports

Yoon, Jung Hwan JH; Kim, Olga O; Eun, Jung Woo JW; Choi, Sung Sook SS; Ashktorab, Hassan H; Smoot, Duane T DT; Nam, Suk Woo SW; Park, Won Sang WS

Publication Date: 2018-12-04

Variant appearance in text: rs1051741

PubMed Link: 30514953

Variant Present in the following documents:

• 41598_2018_35733_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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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: rs1051741

PubMed Link: 30319441

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

View BVdb publication page

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Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal

Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL

Publication Date: 2019-04

Variant appearance in text: rs1051741

PubMed Link: 30214008

Variant Present in the following documents:

• NIHMS1503453-supplement-3.xlsx, sheet 1

View BVdb publication page

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Establishment of a Han Chinese-specific pharmacogenetic-guided warfarin dosing algorithm.

Medicine

Pei, Lin L; Tian, Xiaoyi X; Long, Yan Y; Nan, Wenhui W; Jia, Mei M; Qiao, Rui R; Zhang, Jie J

Publication Date: 2018-09

Variant appearance in text: rs1051741

PubMed Link: 30200121

Variant Present in the following documents:

• medi-97-e12178.pdf

View BVdb publication page

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A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.

Molecular Genetics & Genomic Medicine

Yang, Junli J; Wang, Qiong Q; Zhuo, Qingcui Q; Tian, Huiling H; Li, Wen W; Luo, Fang F; Zhang, Jinghui J; Bi, Dan D; Peng, Jing J; Zhou, Dong D; Xin, Huawei H

Publication Date: 2018-09

Variant appearance in text: EPHX1: 1071C>T; N357N; rs1051741

PubMed Link: 29974678

Variant Present in the following documents:

• MGG3-6-739-s002.xlsx, sheet 3
• MGG3-6-739-s002.xlsx, sheet 4

View BVdb publication page

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Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation

Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H

Publication Date: 2017

Variant appearance in text: rs1051741

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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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: EPHX1: N357N; rs1051741

PubMed Link: 28499365

Variant Present in the following documents:

• 12885_2017_3314_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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Deleterious coding variants in multi-case families with non-syndromic cleft lip and/or palate phenotypes.

Scientific Reports

Pengelly, Reuben J RJ; Arias, Liliana L; Martínez, Julio J; Upstill-Goddard, Rosanna R; Seaby, Eleanor G EG; Gibson, Jane J; Ennis, Sarah S; Collins, Andrew A; Briceño, Ignacio I

Publication Date: 2016-07-26

Variant appearance in text: EPHX1: N357N; rs1051741

PubMed Link: 27456059

Variant Present in the following documents:

• srep30457-s2.xls, sheet 2
• srep30457-s2.xls, sheet 1

View BVdb publication page

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Exploring the interaction among EPHX1, GSTP1, SERPINE2, and TGFB1 contributing to the quantitative traits of chronic obstructive pulmonary disease in Chinese Han population.

Human Genomics

An, Li L; Lin, Yingxiang Y; Yang, Ting T; Hua, Lin L

Publication Date: 2016-05-18

Variant appearance in text: rs1051741

PubMed Link: 27193053

Variant Present in the following documents:

• Main text
• 40246_2016_Article_76.pdf

View BVdb publication page

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Whole exome sequencing identifies novel candidate genes that modify chronic obstructive pulmonary disease susceptibility.

Human Genomics

Bruse, Shannon S; Moreau, Michael M; Bromberg, Yana Y; Jang, Jun-Ho JH; Wang, Nan N; Ha, Hongseok H; Picchi, Maria M; Lin, Yong Y; Langley, Raymond J RJ; Qualls, Clifford C; Klensney-Tait, Julia J; Zabner, Joseph J; Leng, Shuguang S; Mao, Jenny J; Belinsky, Steven A SA; Xing, Jinchuan J; Nyunoya, Toru T

Publication Date: 2016-01-07

Variant appearance in text: EPHX1: N357N; rs1051741

PubMed Link: 26744305

Variant Present in the following documents:

• 40246_2015_58_MOESM5_ESM.xlsx, sheet 2
• 40246_2015_58_MOESM5_ESM.xlsx, sheet 3

View BVdb publication page

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Evaluation of Oxidative Stress Response Related Genetic Variants, Pro-oxidants, Antioxidants and Prostate Cancer.

Aims Medical Science

Lavender, Nicole N; Hein, David W DW; Brock, Guy G; Kidd, La Creis R CR

Publication Date: 2015

Variant appearance in text: EPHX1: Asn357Asn; rs1051741

PubMed Link: 26636131

Variant Present in the following documents:

• NIHMS724455-supplement-01.pdf

View BVdb publication page

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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: EPHX1: N357N; rs1051741

PubMed Link: 25944692

Variant Present in the following documents:

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

View BVdb publication page

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The Affymetrix DMET Plus platform reveals unique distribution of ADME-related variants in ethnic Arabs.

Disease Markers

Wakil, Salma M SM; Nguyen, Cao C; Muiya, Nzioka P NP; Andres, Editha E; Lykowska-Tarnowska, Agnieszka A; Baz, Batoul B; Tahir, Asma I AI; Meyer, Brian F BF; Morahan, Grant G; Dzimiri, Nduna N

Publication Date: 2015

Variant appearance in text: rs1051741

PubMed Link: 25802476

Variant Present in the following documents:

• 542543.f1.xlsx, sheet 1

View BVdb publication page

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An Improved Version of Logistic Bayesian LASSO for Detecting Rare Haplotype-Environment Interactions with Application to Lung Cancer.

Cancer Informatics

Zhang, Yuan Y; Biswas, Swati S

Publication Date: 2015

Variant appearance in text: rs1051741

PubMed Link: 25733797

Variant Present in the following documents:

• Main text
• cin-suppl.2-2015-011.pdf

View BVdb publication page

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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: EPHX1: N357N; rs1051741

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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The RPTEC/TERT1 cell line models key renal cell responses to the environmental toxicants, benzo[a]pyrene and cadmium.

Toxicology Reports

Simon, B R BR; Wilson, M J MJ; Wickliffe, J K JK

Publication Date: 2014

Variant appearance in text: rs1051741

PubMed Link: 25126521

Variant Present in the following documents:

• mmc1.xls, sheet 1

View BVdb publication page

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A large scale gene-centric association study of lung function in newly-hired female cotton textile workers with endotoxin exposure.

Plos One

Zhang, Ruyang R; Zhao, Yang Y; Chu, Minjie M; Mehta, Amar A; Wei, Yongyue Y; Liu, Yao Y; Xun, Pengcheng P; Bai, Jianling J; Yu, Hao H; Su, Li L; Zhang, Hongxi H; Hu, Zhibin Z; Shen, Hongbing H; Chen, Feng F; Christiani, David C DC

Publication Date: 2013

Variant appearance in text: rs1051741

PubMed Link: 23527081

Variant Present in the following documents:

• Main text
• pone.0059035.pdf

View BVdb publication page

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Pharmacogenomics of warfarin in populations of African descent.

British Journal Of Clinical Pharmacology

Suarez-Kurtz, Guilherme G; Botton, Mariana R MR

Publication Date: 2013-02

Variant appearance in text: EPHX1: N357N; rs1051741

PubMed Link: 22676711

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic variants in antioxidant genes are associated with diisocyanate-induced asthma.

Toxicological Sciences : An Official Journal Of The Society Of Toxicology

Yucesoy, Berran B; Johnson, Victor J VJ; Lummus, Zana L ZL; Kissling, Grace E GE; Fluharty, Kara K; Gautrin, Denyse D; Malo, Jean-Luc JL; Cartier, André A; Boulet, Louis-Philippe LP; Sastre, Joaquin J; Quirce, Santiago S; Germolec, Dori R DR; Tarlo, Susan M SM; Cruz, Maria-Jesus MJ; Munoz, Xavier X; Luster, Michael I MI; Bernstein, David I DI

Publication Date: 2012-09

Variant appearance in text: rs1051741

PubMed Link: 22610343

Variant Present in the following documents:

• Main text

View BVdb publication page

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Impact of interactions of cigarette smoking with NAT2 polymorphisms on rheumatoid arthritis risk in African Americans.

Arthritis And Rheumatism

Mikuls, Ted R TR; Levan, Tricia T; Gould, Karen A KA; Yu, Fang F; Thiele, Geoffrey M GM; Bynote, Kimberly K KK; Conn, Doyt D; Jonas, Beth L BL; Callahan, Leigh F LF; Smith, Edwin E; Brasington, Richard R; Moreland, Larry W LW; Reynolds, Richard R; Gaffo, Angelo A; Bridges, S Louis SL

Publication Date: 2012-03

Variant appearance in text: rs1051741

PubMed Link: 21989592

Variant Present in the following documents:

• Main text

View BVdb publication page

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New genetic variant that might improve warfarin dose prediction in African Americans.

British Journal Of Clinical Pharmacology

Schelleman, Hedi H; Brensinger, Colleen M CM; Chen, Jinbo J; Finkelman, Brian S BS; Rieder, Mark J MJ; Kimmel, Stephen E SE

Publication Date: 2010-09

Variant appearance in text: rs1051741

PubMed Link: 20716240

Variant Present in the following documents:

• Main text

View BVdb publication page

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Phase I metabolic genes and risk of lung cancer: multiple polymorphisms and mRNA expression.

Plos One

Rotunno, Melissa M; Yu, Kai K; Lubin, Jay H JH; Consonni, Dario D; Pesatori, Angela C AC; Goldstein, Alisa M AM; Goldin, Lynn R LR; Wacholder, Sholom S; Welch, Robert R; Burdette, Laurie L; Chanock, Stephen J SJ; Bertazzi, Pier Alberto PA; Tucker, Margaret A MA; Caporaso, Neil E NE; Chatterjee, Nilanjan N; Bergen, Andrew W AW; Landi, Maria Teresa MT

Publication Date: 2009-05-21

Variant appearance in text: EPHX1: Asn357Asn; rs1051741

PubMed Link: 19479063

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic associations with hypoxemia and pulmonary arterial pressure in COPD.

Chest

Castaldi, Peter J PJ; Hersh, Craig P CP; Reilly, John J JJ; Silverman, Edwin K EK

Publication Date: 2009-03

Variant appearance in text: rs1051741

PubMed Link: 19017876

Variant Present in the following documents:

• Main text

View BVdb publication page

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Bladder cancer risk and genetic variation in AKR1C3 and other metabolizing genes.

Carcinogenesis

Figueroa, Jonine D JD; Malats, Núria N; García-Closas, Montserrat M; Real, Francisco X FX; Silverman, Debra D; Kogevinas, Manolis M; Chanock, Stephen S; Welch, Robert R; Dosemeci, Mustafa M; Lan, Qing Q; Tardón, Adonina A; Serra, Consol C; Carrato, Alfredo A; García-Closas, Reina R; Castaño-Vinyals, Gemma G; Rothman, Nathaniel N

Publication Date: 2008-10

Variant appearance in text: EPHX1: N357N; rs1051741

PubMed Link: 18632753

Variant Present in the following documents:

• Main text

View BVdb publication page

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Xenobiotic metabolizing enzyme gene polymorphisms predict response to lung volume reduction surgery.

Respiratory Research

Hersh, Craig P CP; DeMeo, Dawn L DL; Reilly, John J JJ; Silverman, Edwin K EK

Publication Date: 2007-08-08

Variant appearance in text: rs1051741

PubMed Link: 17686149

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic determinants of emphysema distribution in the national emphysema treatment trial.

American Journal Of Respiratory And Critical Care Medicine

DeMeo, Dawn L DL; Hersh, Craig P CP; Hoffman, Eric A EA; Litonjua, Augusto A AA; Lazarus, Ross R; Sparrow, David D; Benditt, Joshua O JO; Criner, Gerard G; Make, Barry B; Martinez, Fernando J FJ; Scanlon, Paul D PD; Sciurba, Frank C FC; Utz, James P JP; Reilly, John J JJ; Silverman, Edwin K EK

Publication Date: 2007-07-01

Variant appearance in text: rs1051741

PubMed Link: 17363767

Variant Present in the following documents:

• Main text

View BVdb publication page

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Association of warfarin dose with genes involved in its action and metabolism.

Human Genetics

Wadelius, Mia M; Chen, Leslie Y LY; Eriksson, Niclas N; Bumpstead, Suzannah S; Ghori, Jilur J; Wadelius, Claes C; Bentley, David D; McGinnis, Ralph R; Deloukas, Panos P

Publication Date: 2007-03

Variant appearance in text: rs1051741

PubMed Link: 17048007

Variant Present in the following documents:

View BVdb publication page

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Genetic association analysis of functional impairment in chronic obstructive pulmonary disease.

American Journal Of Respiratory And Critical Care Medicine

Hersh, Craig P CP; Demeo, Dawn L DL; Lazarus, Ross R; Celedón, Juan C JC; Raby, Benjamin A BA; Benditt, Joshua O JO; Criner, Gerard G; Make, Barry B; Martinez, Fernando J FJ; Scanlon, Paul D PD; Sciurba, Frank C FC; Utz, James P JP; Reilly, John J JJ; Silverman, Edwin K EK

Publication Date: 2006-05-01

Variant appearance in text: rs1051741

PubMed Link: 16456143

Variant Present in the following documents:

• Main text

View BVdb publication page

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Attempted replication of reported chronic obstructive pulmonary disease candidate gene associations.

American Journal Of Respiratory Cell And Molecular Biology

Hersh, Craig P CP; Demeo, Dawn L DL; Lange, Christoph C; Litonjua, Augusto A AA; Reilly, John J JJ; Kwiatkowski, David D; Laird, Nan N; Sylvia, Jody S JS; Sparrow, David D; Speizer, Frank E FE; Weiss, Scott T ST; Silverman, Edwin K EK

Publication Date: 2005-07

Variant appearance in text: rs1051741

PubMed Link: 15817713

Variant Present in the following documents:

• Main text

View BVdb publication page

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