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: 1039C>T; rs138776684

PubMed Link: 37324772

Variant Present in the following documents:

• Main text
• JOA3-39-430.pdf

View BVdb publication page

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1029 genomes of self-declared healthy individuals from India reveal prevalent and clinically relevant cardiac ion channelopathy variants.

Human Genomics

Bajaj, Anjali A; Senthivel, Vigneshwar V; Bhoyar, Rahul R; Jain, Abhinav A; Imran, Mohamed M; Rophina, Mercy M; Divakar, Mohit Kumar MK; Jolly, Bani B; Verma, Ankit A; Mishra, Anushree A; Sharma, Disha D; Deepti, Siddharthan S; Sharma, Gautam G; Bansal, Raghav R; Yadav, Rakesh R; Scaria, Vinod V; Naik, Nitish N; Sivasubbu, Sridhar S

Publication Date: 2022-08-05

Variant appearance in text: KCNH2: 1039C>T; P347S; rs138776684

PubMed Link: 35932045

Variant Present in the following documents:

• 40246_2022_402_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Systematic review and meta-analysis of genomic alterations in acral melanoma.

Pigment Cell & Melanoma Research

Broit, Natasa N; Johansson, Peter A PA; Rodgers, Chloe B CB; Walpole, Sebastian T ST; Hayward, Nicholas K NK; Pritchard, Antonia L AL

Publication Date: 2022-05

Variant appearance in text: KCNH2: 1039C>T; His347Tyr

PubMed Link: 35229492

Variant Present in the following documents:

• PCMR-35-369-s003.xlsx, sheet 6

View BVdb publication page

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Loss-of-function variants in Kv 11.1 cardiac channels as a biomarker for SUDEP.

Annals Of Clinical And Translational Neurology

Soh, Ming S MS; Bagnall, Richard D RD; Bennett, Mark F MF; Bleakley, Lauren E LE; Mohamed Syazwan, Erlina S ES; Phillips, A Marie AM; Chiam, Mathew D F MDF; McKenzie, Chaseley E CE; Hildebrand, Michael M; Crompton, Douglas D; Bahlo, Melanie M; Semsarian, Christopher C; Scheffer, Ingrid E IE; Berkovic, Samuel F SF; Reid, Christopher A CA

Publication Date: 2021-07

Variant appearance in text: KCNH2: P347S

PubMed Link: 34002542

Variant Present in the following documents:

• Main text
• ACN3-8-1422.pdf

View BVdb publication page

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Ventricular Arrhythmia Risk Based on Ethnicity in COVID-19 Patients on Hydroxychloroquine and Azithromycin Combination: Viewpoint.

Sn Comprehensive Clinical Medicine

Roy, Sayak S; MainakMukhopadhyay,

Publication Date: 2020

Variant appearance in text: HERG: P347S

PubMed Link: 32838150

Variant Present in the following documents:

• Main text
• 42399_2020_Article_370.pdf

View BVdb publication page

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Ventricular Arrhythmia Risk Based on Ethnicity in COVID-19 Patients on Hydroxychloroquine and Azithromycin Combination: Viewpoint.

Sn Comprehensive Clinical Medicine

Roy, Sayak S; MainakMukhopadhyay,

Publication Date: 2020-06-27

Variant appearance in text: HERG: P347S

PubMed Link: 32838150

Variant Present in the following documents:

• Main text
• 42399_2020_Article_370.pdf

View BVdb publication page

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The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research

Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,

Publication Date: 2020-09

Variant appearance in text: KCNH2: 1039C>T; Pro347Ser; rs138776684

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

View BVdb publication page

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REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports

Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D

Publication Date: 2019-09-04

Variant appearance in text: KCNH2: 1039C>T; P347S

PubMed Link: 31484976

Variant Present in the following documents:

• 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Next-generation sequencing using microfluidic PCR enrichment for molecular autopsy.

Bmc Cardiovascular Disorders

Raju, Hariharan H; Ware, James S JS; Skinner, Jonathan R JR; Hedley, Paula L PL; Arno, Gavin G; Love, Donald R DR; van der Werf, Christian C; Tfelt-Hansen, Jacob J; Winkel, Bo Gregers BG; Cohen, Marta C MC; Li, Xinzhong X; John, Shibu S; Sharma, Sanjay S; Jeffery, Steve S; Wilde, Arthur A M AAM; Christiansen, Michael M; Sheppard, Mary N MN; Behr, Elijah R ER

Publication Date: 2019-07-23

Variant appearance in text: KCNH2: P347S; rs138776684

PubMed Link: 31337358

Variant Present in the following documents:

• Main text
• 12872_2019_Article_1154.pdf
• 12872_2019_1154_MOESM1_ESM.pdf

View BVdb publication page

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Identifying Extrinsic versus Intrinsic Drivers of Variation in Cell Behavior in Human iPSC Lines from Healthy Donors.

Cell Reports

Vigilante, Alessandra A; Laddach, Anna A; Moens, Nathalie N; Meleckyte, Ruta R; Leha, Andreas A; Ghahramani, Arsham A; Culley, Oliver J OJ; Kathuria, Annie A; Hurling, Chloe C; Vickers, Alice A; Wiseman, Erika E; Tewary, Mukul M; Zandstra, Peter W PW; , ; Durbin, Richard R; Fraternali, Franca F; Stegle, Oliver O; Birney, Ewan E; Luscombe, Nicholas M NM; Danovi, Davide D; Watt, Fiona M FM

Publication Date: 2019-02-19

Variant appearance in text: KCNH2: P347S

PubMed Link: 30784590

Variant Present in the following documents:

• mmc6.xlsx, sheet 1
• mmc6.xlsx, sheet 2

View BVdb publication page

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Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.

Human Genomics

Fichna, Jakub Piotr JP; Macias, Anna A; Piechota, Marcin M; Korostyński, Michał M; Potulska-Chromik, Anna A; Redowicz, Maria Jolanta MJ; Zekanowski, Cezary C

Publication Date: 2018-07-03

Variant appearance in text: rs138776684

PubMed Link: 29970176

Variant Present in the following documents:

• 40246_2018_167_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Classification and Reporting of Potentially Proarrhythmic Common Genetic Variation in Long QT Syndrome Genetic Testing.

Circulation

Giudicessi, John R JR; Roden, Dan M DM; Wilde, Arthur A M AAM; Ackerman, Michael J MJ

Publication Date: 2018-02-06

Variant appearance in text: KCNH2: Pro347Ser

PubMed Link: 29431662

Variant Present in the following documents:

• Main text

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: KCNH2: 1039C>T; Pro347Ser

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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: LQT2: P347S

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Diagnostic yield of molecular autopsy in patients with sudden arrhythmic death syndrome using targeted exome sequencing.

Europace : European Pacing, Arrhythmias, And Cardiac Electrophysiology : Journal Of The Working Groups On Cardiac Pacing, Arrhythmias, And Cardiac Cellular Electrophysiology Of The European Society Of Cardiology

Nunn, Laurence M LM; Lopes, Luis R LR; Syrris, Petros P; Murphy, Cian C; Plagnol, Vincent V; Firman, Eileen E; Dalageorgou, Chrysoula C; Zorio, Esther E; Domingo, Diana D; Murday, Victoria V; Findlay, Iain I; Duncan, Alexis A; Carr-White, Gerry G; Robert, Leema L; Bueser, Teofila T; Langman, Caroline C; Fynn, Simon P SP; Goddard, Martin M; White, Anne A; Bundgaard, Henning H; Ferrero-Miliani, Laura L; Wheeldon, Nigel N; Suvarna, Simon K SK; O'Beirne, Aliceson A; Lowe, Martin D MD; McKenna, William J WJ; Elliott, Perry M PM; Lambiase, Pier D PD

Publication Date: 2016-06

Variant appearance in text: KCNH2: P347S

PubMed Link: 26498160

Variant Present in the following documents:

• Main text

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: KCNH2: P347S

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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Population genomic analysis of 962 whole genome sequences of humans reveals natural selection in non-coding regions.

Plos One

Yu, Fuli F; Lu, Jian J; Liu, Xiaoming X; Gazave, Elodie E; Chang, Diana D; Raj, Srilakshmi S; Hunter-Zinck, Haley H; Blekhman, Ran R; Arbiza, Leonardo L; Van Hout, Cris C; Morrison, Alanna A; Johnson, Andrew D AD; Bis, Joshua J; Cupples, L Adrienne LA; Psaty, Bruce M BM; Muzny, Donna D; Yu, Jin J; Gibbs, Richard A RA; Keinan, Alon A; Clark, Andrew G AG; Boerwinkle, Eric E

Publication Date: 2015

Variant appearance in text: KCNH2: P347S

PubMed Link: 25807536

Variant Present in the following documents:

• pone.0121644.s002.xls, sheet 1

View BVdb publication page

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The genetics of pro-arrhythmic adverse drug reactions.

British Journal Of Clinical Pharmacology

Petropoulou, Evmorfia E; Jamshidi, Yalda Y; Behr, Elijah R ER

Publication Date: 2014-04

Variant appearance in text: KCNH2: P347S

PubMed Link: 23834499

Variant Present in the following documents:

• Main text

View BVdb publication page

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Tox-database.net: a curated resource for data describing chemical triggered in vitro cardiac ion channels inhibition.

Bmc Pharmacology & Toxicology

Polak, Sebastian S; Wiśniowska, Barbara B; Glinka, Anna A; Polak, Miłosz M

Publication Date: 2012-08-13

Variant appearance in text: KCNH2: P347S

PubMed Link: 22947121

Variant Present in the following documents:

• Main text
• 2050-6511-13-6.pdf

View BVdb publication page

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High prevalence of genetic variants previously associated with LQT syndrome in new exome data.

European Journal Of Human Genetics : Ejhg

Refsgaard, Lena L; Holst, Anders G AG; Sadjadieh, Golnaz G; Haunsø, Stig S; Nielsen, Jonas B JB; Olesen, Morten S MS

Publication Date: 2012-08

Variant appearance in text: KCNH2: P347S; rs138776684

PubMed Link: 22378279

Variant Present in the following documents:

• Main text
• ejhg201223a.pdf

View BVdb publication page

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Pharmacological and electrophysiological characterization of nine, single nucleotide polymorphisms of the hERG-encoded potassium channel.

British Journal Of Pharmacology

Männikkö, Roope R; Overend, G G; Perrey, C C; Gavaghan, C L CL; Valentin, J-P JP; Morten, J J; Armstrong, M M; Pollard, C E CE

Publication Date: 2010-01

Variant appearance in text: KCNH2: P347S

PubMed Link: 19673885

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Nucleic Acids Research

Ryu, Gil-Mi GM; Song, Pamela P; Kim, Kyu-Won KW; Oh, Kyung-Soo KS; Park, Keun-Joon KJ; Kim, Jong Hun JH

Publication Date: 2009-03

Variant appearance in text: KCNH2: P347S

PubMed Link: 19139070

Variant Present in the following documents:

• gkn1008_nar-01723-s-2008-File009.xls, sheet 2

View BVdb publication page

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