Publications:

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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: N/A

PubMed Link: 32529721

Variant Present in the following documents:

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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: rs2228064

PubMed Link: 30214008

Variant Present in the following documents:

• NIHMS1503453-supplement-3.xlsx, sheet 1

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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: N/A

PubMed Link: 29974678

Variant Present in the following documents:

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Genetic variation in the eicosanoid pathway is associated with non-small-cell lung cancer (NSCLC) survival.

Plos One

Sausville, Lindsay N LN; Jones, Carissa C CC; Aldrich, Melinda C MC; Blot, William J WJ; Pozzi, Ambra A; Williams, Scott M SM

Publication Date: 2017

Variant appearance in text: rs2228064

PubMed Link: 28704416

Variant Present in the following documents:

• Main text
• pone.0180471.pdf

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5-Lipoxygenase Gene Variants Are Not Associated With Atherosclerosis or Incident Coronary Heart Disease in the Multi-Ethnic Study of Atherosclerosis Cohort.

Journal Of The American Heart Association

Tsai, Michael Y MY; Cao, Jing J; Steffen, Brian T BT; Weir, Natalie L NL; Rich, Stephen S SS; Liang, Shuang S; Guan, Weihua W

Publication Date: 2016-03-29

Variant appearance in text: rs2228064

PubMed Link: 27025886

Variant Present in the following documents:

• Main text
• JAH3-5-e002814.pdf

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Molecular genetic mechanisms of chronic urticaria.

Allergy, Asthma & Immunology Research

Losol, Purevsuren P; Yoo, Hye-Soo HS; Park, Hae-Sim HS

Publication Date: 2014-01

Variant appearance in text: rs2228064

PubMed Link: 24404388

Variant Present in the following documents:

• aair-6-13.pdf

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Effect of a poly(ADP-ribose) polymerase-1 inhibitor against esophageal squamous cell carcinoma cell lines.

Cancer Science

Nasuno, Tomomitsu T; Mimaki, Sachiyo S; Okamoto, Makito M; Esumi, Hiroyasu H; Tsuchihara, Katsuya K

Publication Date: 2014-02

Variant appearance in text: N/A

PubMed Link: 24219164

Variant Present in the following documents:

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ALOX5 is associated with tuberculosis in a subset of the pediatric population of North China.

Genetic Testing And Molecular Biomarkers

Shen, Chen C; Wu, Xi-Rong XR; Wang, Bin-Bin BB; Sun, Lin L; Jiao, Wei-Wei WW; Wang, Jing J; Feng, Wei-Xing WX; Xiao, Jing J; Miao, Qing Q; Liu, Fang F; Yin, Qing-Qin QQ; Ma, Xu X; Shen, A-Dong AD

Publication Date: 2013-04

Variant appearance in text: N/A

PubMed Link: 23448388

Variant Present in the following documents:

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Association of 5-lipoxygenase gene polymorphisms with bronchial asthma.

Experimental And Therapeutic Medicine

Bai, Chunying C; Yu, Xiaoming X; Yun, Rui R; Shi, Tiewei T; Zhang, Chaojun C; Zhou, Jing J; Sachurangui, ; Tong, Lijuan L; Li, Xiujun X; Gao, Lifeng L

Publication Date: 2012-12

Variant appearance in text: rs2228064

PubMed Link: 23226757

Variant Present in the following documents:

• Main text
• etm-04-06-0967.pdf

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Genotyping panel for assessing response to cancer chemotherapy.

Bmc Medical Genomics

Dai, Zunyan Z; Papp, Audrey C AC; Wang, Danxin D; Hampel, Heather H; Sadee, Wolfgang W

Publication Date: 2008-06-11

Variant appearance in text: rs2228064

PubMed Link: 18547414

Variant Present in the following documents:

• 1755-8794-1-24-S1.xls, sheet 1

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Common polymorphisms of ALOX5 and ALOX5AP and risk of coronary artery disease.

Human Genetics

Assimes, Themistocles L TL; Knowles, Joshua W JW; Priest, James R JR; Basu, Analabha A; Volcik, Kelly A KA; Southwick, Audrey A; Tabor, Holly K HK; Hartiala, Jaana J; Allayee, Hooman H; Grove, Megan L ML; Tabibiazar, Raymond R; Sidney, Stephen S; Fortmann, Stephen P SP; Go, Alan A; Hlatky, Mark M; Iribarren, Carlos C; Boerwinkle, Eric E; Myers, Richard R; Risch, Neil N; Quertermous, Thomas T

Publication Date: 2008-05

Variant appearance in text: rs2228064

PubMed Link: 18369664

Variant Present in the following documents:

• Main text

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Prevalence of common disease-associated variants in Asian Indians.

Bmc Genetics

Pemberton, Trevor J TJ; Mehta, Niyati U NU; Witonsky, David D; Di Rienzo, Anna A; Allayee, Hooman H; Conti, David V DV; Patel, Pragna I PI

Publication Date: 2008-02-04

Variant appearance in text: rs2228064

PubMed Link: 18248681

Variant Present in the following documents:

• Main text
• 1471-2156-9-13.pdf

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