Publications:

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Identification of a novel pathogenic variant in KCNH2 in an Iranian family with long QT syndrome 2 by whole-exome sequencing.

Journal Of Arrhythmia

Fazelifar, Amir Farjam AF; Pourirahim, Maryam M; Masoumi, Tannaz T; Biglari, Alireza A; Maleki, Majid M; Kalayinia, Samira S

Publication Date: 2023-06

Variant appearance in text: KCNH2: Y652Y; rs1137617

PubMed Link: 37324772

Variant Present in the following documents:

• Main text
• JOA3-39-430.pdf

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Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.

Communications Biology

Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF

Publication Date: 2020-04-20

Variant appearance in text: rs1137617

PubMed Link: 32313182

Variant Present in the following documents:

• 42003_2020_885_MOESM2_ESM.xlsx, sheet 1

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Targeted next generation sequencing revealed a novel deletion-frameshift mutation of KCNH2 gene in a Chinese Han family with long QT syndrome: A case report and review of Chinese cases.

Medicine

Du, Fengli F; Wang, Guangxin G; Wang, Dawei D; Su, Guoying G; Yao, Guixiang G; Zhang, Wei W; Su, Guohai G

Publication Date: 2020-04

Variant appearance in text: KCNH2: Y652X

PubMed Link: 32311972

Variant Present in the following documents:

• medi-99-e19749.pdf

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Pharmacogenomics And Hypertension: Current Insights.

Pharmacogenomics And Personalized Medicine

Oliveira-Paula, Gustavo H GH; Pereira, Sherliane C SC; Tanus-Santos, Jose E JE; Lacchini, Riccardo R

Publication Date: 2019

Variant appearance in text: rs1137617

PubMed Link: 31819590

Variant Present in the following documents:

• Main text
• pgpm-12-341.pdf

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The Pore-Lipid Interface: Role of Amino-Acid Determinants of Lipophilic Access by Ivabradine to the hERG1 Pore Domain.

Molecular Pharmacology

Perissinotti, Laura L; Guo, Jiqing J; Kudaibergenova, Meruyert M; Lees-Miller, James J; Ol'khovich, Marina M; Sharapova, Angelica A; Perlovich, German L GL; Muruve, Daniel A DA; Gerull, Brenda B; Noskov, Sergei Yu SY; Duff, Henry J HJ

Publication Date: 2019-08

Variant appearance in text: Kv11.1: Y652X

PubMed Link: 31182542

Variant Present in the following documents:

• Main text

View BVdb publication page

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Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.

Bmc Neurology

Zhang, Xiaoqian X; Zhang, Lei L; Wu, Yanqing Y; Li, Gang G; Chen, Shengcai S; Xia, Yuanpeng Y; Li, Hongge H

Publication Date: 2018-11-29

Variant appearance in text: rs1137617

PubMed Link: 30497413

Variant Present in the following documents:

• 12883_2018_1199_MOESM5_ESM.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: rs1137617

PubMed Link: 30214008

Variant Present in the following documents:

• NIHMS1503453-supplement-3.xlsx, sheet 1

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Whole-Exome Sequencing Study of Extreme Phenotypes of NAFLD.

Hepatology Communications

Kleinstein, Sarah E SE; Rein, Matthew M; Abdelmalek, Manal F MF; Guy, Cynthia D CD; Goldstein, David B DB; Mae Diehl, Anna A; Moylan, Cynthia A CA

Publication Date: 2018-09

Variant appearance in text: rs1137617

PubMed Link: 30202817

Variant Present in the following documents:

• HEP4-2-1021-s001.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: rs1137617

PubMed Link: 29974678

Variant Present in the following documents:

• MGG3-6-739-s002.xlsx, sheet 7
• MGG3-6-739-s002.xlsx, sheet 3
• MGG3-6-739-s002.xlsx, sheet 6
• MGG3-6-739-s002.xlsx, sheet 4

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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: rs1137617

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

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Molecular Pathophysiology of Congenital Long QT Syndrome.

Physiological Reviews

Bohnen, M S MS; Peng, G G; Robey, S H SH; Terrenoire, C C; Iyer, V V; Sampson, K J KJ; Kass, R S RS

Publication Date: 2017-01

Variant appearance in text: LQT2: Y652X

PubMed Link: 27807201

Variant Present in the following documents:

• Main text

View BVdb publication page

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eMERGE Phenome-Wide Association Study (PheWAS) identifies clinical associations and pleiotropy for stop-gain variants.

Bmc Medical Genomics

Verma, Anurag A; Verma, Shefali S SS; Pendergrass, Sarah A SA; Crawford, Dana C DC; Crosslin, David R DR; Kuivaniemi, Helena H; Bush, William S WS; Bradford, Yuki Y; Kullo, Iftikhar I; Bielinski, Suzette J SJ; Li, Rongling R; Denny, Joshua C JC; Peissig, Peggy P; Hebbring, Scott S; De Andrade, Mariza M; Ritchie, Marylyn D MD; Tromp, Gerard G

Publication Date: 2016-08-12

Variant appearance in text: rs1137617

PubMed Link: 27535653

Variant Present in the following documents:

• Main text
• 12920_2016_Article_191.pdf

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Translational toxicology and rescue strategies of the hERG channel dysfunction: biochemical and molecular mechanistic aspects.

Acta Pharmacologica Sinica

Zhang, Kai-ping KP; Yang, Bao-feng BF; Li, Bao-xin BX

Publication Date: 2014-12

Variant appearance in text: KCNH2: Y652X

PubMed Link: 25418379

Variant Present in the following documents:

• Main text

View BVdb publication page

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Electrophysiologic substrate in congenital Long QT syndrome: noninvasive mapping with electrocardiographic imaging (ECGI).

Circulation

Vijayakumar, Ramya R; Silva, Jennifer N A JNA; Desouza, Kavit A KA; Abraham, Robert L RL; Strom, Maria M; Sacher, Frederic F; Van Hare, George F GF; Haïssaguerre, Michel M; Roden, Dan M DM; Rudy, Yoram Y

Publication Date: 2014-11-25

Variant appearance in text: KCNH2: Y652X

PubMed Link: 25294783

Variant Present in the following documents:

• Main text

View BVdb publication page

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Integrated mRNA and microRNA transcriptome sequencing characterizes sequence variants and mRNA-microRNA regulatory network in nasopharyngeal carcinoma model systems.

Febs Open Bio

Szeto, Carol Ying-Ying CY; Lin, Chi Ho CH; Choi, Siu Chung SC; Yip, Timothy T C TT; Ngan, Roger Kai-Cheong RK; Tsao, George Sai-Wah GS; Li Lung, Maria M

Publication Date: 2014

Variant appearance in text: rs1137617

PubMed Link: 24490137

Variant Present in the following documents:

• mmc5.xlsx, sheet 2

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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: rs1137617

PubMed Link: 24219164

Variant Present in the following documents:

• cas0105-0202-SD2.xlsx, sheet 1
• cas0105-0202-SD3.xlsx, sheet 1

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The KCNH2 genetic polymorphism (1956, C>T) is a novel biomarker that is associated with CCB and α,β-ADR blocker response in EH patients in China.

Plos One

He, Fazhong F; Luo, Jianquan J; Luo, Zhiying Z; Fan, Lan L; He, Yijing Y; Zhu, Dingliang D; Gao, Jinping J; Deng, Sheng S; Wang, Yan Y; Qian, Yuesheng Y; Zhou, Honghao H; Chen, Xiaoping X; Zhang, Wei W

Publication Date: 2013

Variant appearance in text: rs1137617

PubMed Link: 23613831

Variant Present in the following documents:

• Main text
• pone.0061317.pdf

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