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: 3140G>T; rs36210421

PubMed Link: 37324772

Variant Present in the following documents:

• Main text
• JOA3-39-430.pdf

View BVdb publication page

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Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications

Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA

Publication Date: 2023-04-03

Variant appearance in text: KCNH2: R1047L

PubMed Link: 37012232

Variant Present in the following documents:

• 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2

View BVdb publication page

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The relationship between glucose and the liver-alpha cell axis - A systematic review.

Frontiers In Endocrinology

Pixner, Thomas T; Stummer, Nathalie N; Schneider, Anna Maria AM; Lukas, Andreas A; Gramlinger, Karin K; Julian, Valérie V; Thivel, David D; Mörwald, Katharina K; Mangge, Harald H; Dalus, Christopher C; Aigner, Elmar E; Furthner, Dieter D; Weghuber, Daniel D; Maruszczak, Katharina K

Publication Date: 2022

Variant appearance in text: rs36210421

PubMed Link: 36686477

Variant Present in the following documents:

• Main text
• fendo-13-1061682.pdf

View BVdb publication page

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Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: KCNH2: R1047L; rs36210421

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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: 3140G>T; R1047L; rs36210421

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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H1153Y-KCNH2 Mutation Identified in a Sudden Arrhythmic Death Syndrome Case Alters Channel Gating.

International Journal Of Molecular Sciences

Farrugia, Audrey A; Rollet, Kevin K; Sinniger, Jérome J; Brun, Susana S; Spenle, Caroline C; Ludes, Bertrand B; Taleb, Omar O; Mensah-Nyagan, Ayikoe Guy AG

Publication Date: 2021-08-26

Variant appearance in text: KCNH2: R1047L

PubMed Link: 34502138

Variant Present in the following documents:

• Main text
• ijms-22-09235.pdf

View BVdb publication page

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2020 APHRS/HRS expert consensus statement on the investigation of decedents with sudden unexplained death and patients with sudden cardiac arrest, and of their families.

Journal Of Arrhythmia

Stiles, Martin K MK; Wilde, Arthur A M AAM; Abrams, Dominic J DJ; Ackerman, Michael J MJ; Albert, Christine M CM; Behr, Elijah R ER; Chugh, Sumeet S SS; Cornel, Martina C MC; Gardner, Karen K; Ingles, Jodie J; James, Cynthia A CA; Juang, Jyh-Ming Jimmy JJ; Kääb, Stefan S; Kaufman, Elizabeth S ES; Krahn, Andrew D AD; Lubitz, Steven A SA; MacLeod, Heather H; Morillo, Carlos A CA; Nademanee, Koonlawee K; Probst, Vincent V; Saarel, Elizabeth V EV; Sacilotto, Luciana L; Semsarian, Christopher C; Sheppard, Mary N MN; Shimizu, Wataru W; Skinner, Jonathan R JR; Tfelt-Hansen, Jacob J; Wang, Dao Wu DW

Publication Date: 2021-06

Variant appearance in text: KCNH2: R1047L

PubMed Link: 34141003

Variant Present in the following documents:

• JOA3-37-481-s001.pdf

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: R1047L

PubMed Link: 34002542

Variant Present in the following documents:

• Main text

View BVdb publication page

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Patients with coronary heart disease, dilated cardiomyopathy and idiopathic ventricular tachycardia share overlapping patterns of pathogenic variation in cardiac risk genes.

Peerj

Guelly, Christian C; Abilova, Zhannur Z; Nuralinov, Omirbek O; Panzitt, Katrin K; Akhmetova, Ainur A; Rakhimova, Saule S; Kozhamkulov, Ulan U; Kairov, Ulykbek U; Molkenov, Askhat A; Seisenova, Ainur A; Trajanoski, Slave S; Abildinova Rashbayeva, Gulzhaina G; Kaussova, Galina G; Windpassinger, Christian C; Lee, Joseph H JH; Zhumadilov, Zhaxybay Z; Bekbossynova, Makhabbat M; Akilzhanova, Ainur A

Publication Date: 2021

Variant appearance in text: KCNH2: R1047L

PubMed Link: 33552729

Variant Present in the following documents:

• peerj-09-10711-s004.xlsx, sheet 1

View BVdb publication page

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Atrial fibrillation-a complex polygenetic disease.

European Journal Of Human Genetics : Ejhg

Andersen, Julie H JH; Andreasen, Laura L; Olesen, Morten S MS

Publication Date: 2021-07

Variant appearance in text: KCNH2: 3140G>T; Arg1047Leu

PubMed Link: 33279945

Variant Present in the following documents:

• 41431_2020_784_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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2020 APHRS/HRS expert consensus statement on the investigation of decedents with sudden unexplained death and patients with sudden cardiac arrest, and of their families.

Heart Rhythm

Stiles, Martin K MK; Wilde, Arthur A M AAM; Abrams, Dominic J DJ; Ackerman, Michael J MJ; Albert, Christine M CM; Behr, Elijah R ER; Chugh, Sumeet S SS; Cornel, Martina C MC; Gardner, Karen K; Ingles, Jodie J; James, Cynthia A CA; Jimmy Juang, Jyh-Ming JM; Kääb, Stefan S; Kaufman, Elizabeth S ES; Krahn, Andrew D AD; Lubitz, Steven A SA; MacLeod, Heather H; Morillo, Carlos A CA; Nademanee, Koonlawee K; Probst, Vincent V; Saarel, Elizabeth V EV; Sacilotto, Luciana L; Semsarian, Christopher C; Sheppard, Mary N MN; Shimizu, Wataru W; Skinner, Jonathan R JR; Tfelt-Hansen, Jacob J; Wang, Dao Wu DW

Publication Date: 2021-01

Variant appearance in text: KCNH2: R1047L

PubMed Link: 33091602

Variant Present in the following documents:

• NIHMS1704401-supplement-supplementary_Appendix_3.pdf

View BVdb publication page

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Are Variants Causing Cardiac Arrhythmia Risk Factors in Sudden Unexpected Death in Epilepsy?

Frontiers In Neurology

Bleakley, Lauren E LE; Soh, Ming S MS; Bagnall, Richard D RD; Sadleir, Lynette G LG; Gooley, Samuel S; Semsarian, Christopher C; Scheffer, Ingrid E IE; Berkovic, Samuel F SF; Reid, Christopher A CA

Publication Date: 2020

Variant appearance in text: KCNH2: Arg1047Leu

PubMed Link: 33013630

Variant Present in the following documents:

• Main text
• fneur-11-00925.pdf

View BVdb publication page

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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: rs36210421

PubMed Link: 32313182

Variant Present in the following documents:

• 42003_2020_885_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Systematic Review of the Genetics of Sudden Unexpected Death in Epilepsy: Potential Overlap With Sudden Cardiac Death and Arrhythmia-Related Genes.

Journal Of The American Heart Association

Chahal, C Anwar A CAA; Salloum, Mohammad N MN; Alahdab, Fares F; Gottwald, Joseph A JA; Tester, David J DJ; Anwer, Lucman A LA; So, Elson L EL; Murad, Mohammad Hassan MH; St Louis, Erik K EK; Ackerman, Michael J MJ; Somers, Virend K VK

Publication Date: 2020-01-07

Variant appearance in text: KCNH2: Arg1047Leu

PubMed Link: 31865891

Variant Present in the following documents:

• Main text
• JAH3-9-e012264.pdf
• JAH3-9-e012264-s001.pdf

View BVdb publication page

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Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports

Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA

Publication Date: 2019-10-09

Variant appearance in text: KCNH2: R1047L; rs36210421

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM8_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: 3140G>T; R1047L

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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Evolving neoantigen profiles in colorectal cancers with DNA repair defects.

Genome Medicine

Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A

Publication Date: 2019-06-28

Variant appearance in text: KCNH2: R1047L

PubMed Link: 31253177

Variant Present in the following documents:

• 13073_2019_654_MOESM2_ESM.xlsx, sheet 41

View BVdb publication page

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Reappraisal of variants previously linked with sudden infant death syndrome: results from three population-based cohorts.

European Journal Of Human Genetics : Ejhg

Paludan-Müller, Christian C; Ghouse, Jonas J; Vad, Oliver B OB; Herfelt, Cecilie B CB; Lundegaard, Pia P; Ahlberg, Gustav G; Schmitt, Nicole N; Svendsen, Jesper H JH; Haunsø, Stig S; Bundgaard, Henning H; Hansen, Torben T; Kanters, Jørgen K JK; Olesen, Morten S MS

Publication Date: 2019-09

Variant appearance in text: KCNH2: Arg1047Leu; rs36210421

PubMed Link: 31043699

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic analysis of pharmacogenomic VIP variants in the Blang population from Yunnan Province of China.

Molecular Genetics & Genomic Medicine

Zhang, Chan C; Guo, Weiwei W; Cheng, Yujing Y; Li, Qi Q; Yang, Xin X; Dai, Run R; Zhu, Linhao L; Chen, Wanlu W

Publication Date: 2019-05

Variant appearance in text: KCNH2: Arg1047Leu; rs36210421

PubMed Link: 30955239

Variant Present in the following documents:

• Main text
• MGG3-7-e574.pdf

View BVdb publication page

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Retrospective Genetic Analysis of 200 Cases of Sudden Infant Death Syndrome and Its Relationship with Long QT Syndrome in Korea.

Journal Of Korean Medical Science

Son, Min-Jeong MJ; Kim, Min-Kyoung MK; Yang, Kyung-Moo KM; Choi, Byung-Ha BH; Lee, Bong Woo BW; Yoo, Seong Ho SH

Publication Date: 2018-08-06

Variant appearance in text: KCNH2: R1047L

PubMed Link: 30079003

Variant Present in the following documents:

• Main text
• jkms-33-e200.pdf

View BVdb publication page

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Genetic polymorphisms in very important pharmacogenomic variants in the Zhuang ethnic group of Southwestern China: A cohort study in the Zhuang population.

Medicine

Li, Jing J; Guo, Chenghao C; Yan, Mengdan M; Niu, Fanglin F; Chen, Peng P; Li, Bin B; Jin, Tianbo T

Publication Date: 2018-04

Variant appearance in text: KCNH2: Arg1047Leu; rs36210421

PubMed Link: 29703042

Variant Present in the following documents:

• medi-97-e0559.pdf

View BVdb publication page

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Common variants in the hERG (KCNH2) voltage-gated potassium channel are associated with altered fasting and glucose-stimulated plasma incretin and glucagon responses.

Bmc Genetics

Engelbrechtsen, Line L; Mahendran, Yuvaraj Y; Jonsson, Anna A; Gjesing, Anette Prior AP; Weeke, Peter E PE; Jørgensen, Marit E ME; Færch, Kristine K; Witte, Daniel R DR; Holst, Jens J JJ; Jørgensen, Torben T; Grarup, Niels N; Pedersen, Oluf O; Vestergaard, Henrik H; Torekov, Signe S; Kanters, Jørgen K JK; Hansen, Torben T

Publication Date: 2018-03-16

Variant appearance in text: Kv11.1: R1047L; rs36210421

PubMed Link: 29548277

Variant Present in the following documents:

• Main text
• 12863_2018_Article_602.pdf

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: Arg1047Leu

PubMed Link: 29431662

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: KCNH2: R1047L; rs36210421

PubMed Link: 29221171

Variant Present in the following documents:

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

View BVdb publication page

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The Pharmacogenomics of a Mutation 'Hotspot' for the Short QT Syndrome.

Jacc. Clinical Electrophysiology

Darbar, Dawood D; McCauley, Mark M

Publication Date: 2017-07

Variant appearance in text: KCNH2: R1047L

PubMed Link: 28966985

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: 3140G>T; Arg1047Leu

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Sudden infant death syndrome due to long QT syndrome: a brief review of the genetic substrate and prevalence.

Journal Of Biological Research (Thessalonike, Greece)

Ioakeimidis, Nikolaos S NS; Papamitsou, Theodora T; Meditskou, Soultana S; Iakovidou-Kritsi, Zafiroula Z

Publication Date: 2017-12

Variant appearance in text: KCNH2: R1047L

PubMed Link: 28316956

Variant Present in the following documents:

• Main text
• 40709_2017_Article_63.pdf

View BVdb publication page

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Potassium currents in the heart: functional roles in repolarization, arrhythmia and therapeutics.

The Journal Of Physiology

Chiamvimonvat, Nipavan N; Chen-Izu, Ye Y; Clancy, Colleen E CE; Deschenes, Isabelle I; Dobrev, Dobromir D; Heijman, Jordi J; Izu, Leighton L; Qu, Zhilin Z; Ripplinger, Crystal M CM; Vandenberg, Jamie I JI; Weiss, James N JN; Koren, Gideon G; Banyasz, Tamas T; Grandi, Eleonora E; Sanguinetti, Michael C MC; Bers, Donald M DM; Nerbonne, Jeanne M JM

Publication Date: 2017-04-01

Variant appearance in text: KCNH2: R1047L

PubMed Link: 27808412

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic polymorphisms of pharmacogenomic VIP variants in the Mongol of Northwestern China.

Bmc Genetics

Jin, Tianbo T; Shi, Xugang X; Wang, Li L; Wang, Huijuan H; Feng, Tian T; Kang, Longli L

Publication Date: 2016-05-28

Variant appearance in text: rs36210421

PubMed Link: 27233804

Variant Present in the following documents:

• Main text
• 12863_2016_Article_379.pdf

View BVdb publication page

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Potassium Channels and Human Epileptic Phenotypes: An Updated Overview.

Frontiers In Cellular Neuroscience

Villa, Chiara C; Combi, Romina R

Publication Date: 2016

Variant appearance in text: KCNH2: Arg1047Leu

PubMed Link: 27064559

Variant Present in the following documents:

• Main text

View BVdb publication page

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Sudden unexpected death in epilepsy genetics: Molecular diagnostics and prevention.

Epilepsia

Goldman, Alica M AM; Behr, Elijah R ER; Semsarian, Christopher C; Bagnall, Richard D RD; Sisodiya, Sanjay S; Cooper, Paul N PN

Publication Date: 2016-01

Variant appearance in text: KCNH2: Arg1047Leu

PubMed Link: 26749013

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic Polymorphisms Analysis of Pharmacogenomic VIP Variants in Miao Ethnic Group of Southwest China.

Medical Science Monitor : International Medical Journal Of Experimental And Clinical Research

Jin, Tianbo T; Aikemu, Ainiwaer A; Zhang, Mingxi M; Geng, Tingting T; Feng, Tian T; Kang, Longli L; Luo, Man Lin ML

Publication Date: 2015-12-03

Variant appearance in text: rs36210421

PubMed Link: 26632549

Variant Present in the following documents:

• Main text
• medscimonit-21-3769.pdf

View BVdb publication page

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Genetic polymorphisms of pharmacogenomic VIP variants in the Uygur population from northwestern China.

Bmc Genetics

Wang, Li L; Aikemu, Ainiwaer A; Yibulayin, Ayiguli A; Du, Shuli S; Geng, Tingting T; Wang, Bo B; Zhang, Yuan Y; Jin, Tianbo T; Yang, Jie J

Publication Date: 2015-06-20

Variant appearance in text: rs36210421

PubMed Link: 26091847

Variant Present in the following documents:

• Main text
• 12863_2015_Article_232.pdf

View BVdb publication page

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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: R1047L

PubMed Link: 25418379

Variant Present in the following documents:

• Main text

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: KCNH2: R1047L; rs36210421

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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Genetic polymorphisms of VIP variants in the Tajik ethnic group of northwest China.

Bmc Genetics

Zhang, Jiayi J; Jin, Tianbo T; Yunus, Zulfiya Z; Li, Xiaolan X; Geng, Tingting T; Wang, Hong H; Cui, Yali Y; Chen, Chao C

Publication Date: 2014-09-30

Variant appearance in text: rs36210421

PubMed Link: 25266489

Variant Present in the following documents:

• Main text
• 12863_2014_Article_102.pdf

View BVdb publication page

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Long QT molecular autopsy in sudden infant death syndrome.

Archives Of Disease In Childhood

Glengarry, Joanna Moira JM; Crawford, Jackie J; Morrow, Paul Lowell PL; Stables, Simon Robert SR; Love, Donald Roy DR; Skinner, Jonathan Robert JR

Publication Date: 2014-07

Variant appearance in text: KCNH2: 3140G>T

PubMed Link: 24596401

Variant Present in the following documents:

• Main text

View BVdb publication page

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Long QT syndrome in South Africa: the results of comprehensive genetic screening.

Cardiovascular Journal Of Africa

Hedley, Paula L PL; Durrheim, Glenda A GA; Hendricks, Firzana F; Goosen, Althea A; Jespersgaard, Cathrine C; Støvring, Birgitte B; Pham, Tam T TT; Christiansen, Michael M; Brink, Paul A PA; Corfield, Valerie A VA

Publication Date: 2013-07

Variant appearance in text: KCNH2: R1047L

PubMed Link: 24217263

Variant Present in the following documents:

• Main text
• cvja-24-231.pdf

View BVdb publication page

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Genomic biomarkers of SUDEP in brain and heart.

Epilepsy & Behavior : E&B

Glasscock, Edward E

Publication Date: 2014-09

Variant appearance in text: KCNH2: R1047L

PubMed Link: 24139807

Variant Present in the following documents:

• Main text

View BVdb publication page

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Long QT interval in Turner syndrome--a high prevalence of LQTS gene mutations.

Plos One

Trolle, Christian C; Mortensen, Kristian H KH; Pedersen, Lisbeth N LN; Berglund, Agnethe A; Jensen, Henrik K HK; Andersen, Niels H NH; Gravholt, Claus H CH

Publication Date: 2013

Variant appearance in text: KCNH2: Arg1047Leu; rs36210421

PubMed Link: 23936059

Variant Present in the following documents:

• Main text

View BVdb publication page

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Long QT syndrome-associated mutations in intrauterine fetal death.

Jama

Crotti, Lia L; Tester, David J DJ; White, Wendy M WM; Bartos, Daniel C DC; Insolia, Roberto R; Besana, Alessandra A; Kunic, Jennifer D JD; Will, Melissa L ML; Velasco, Ellyn J EJ; Bair, Jennifer J JJ; Ghidoni, Alice A; Cetin, Irene I; Van Dyke, Daniel L DL; Wick, Myra J MJ; Brost, Brian B; Delisle, Brian P BP; Facchinetti, Fabio F; George, Alfred L AL; Schwartz, Peter J PJ; Ackerman, Michael J MJ

Publication Date: 2013-04-10

Variant appearance in text: HERG: 3140G>T

PubMed Link: 23571586

Variant Present in the following documents:

• Main text

View BVdb publication page

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Risk of life-threatening cardiac events among patients with long QT syndrome and multiple mutations.

Heart Rhythm

Mullally, Jamie J; Goldenberg, Ilan I; Moss, Arthur J AJ; Lopes, Coeli M CM; Ackerman, Michael J MJ; Zareba, Wojciech W; McNitt, Scott S; Robinson, Jennifer L JL; Benhorin, Jesaia J; Kaufman, Elizabeth S ES; Towbin, Jeffrey A JA; Barsheshet, Alon A

Publication Date: 2013-03

Variant appearance in text: LQT2: R1047L

PubMed Link: 23174487

Variant Present in the following documents:

• Main text

View BVdb publication page

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Founder mutations characterise the mutation panorama in 200 Swedish index cases referred for Long QT syndrome genetic testing.

Bmc Cardiovascular Disorders

Stattin, Eva-Lena EL; Boström, Ida Maria IM; Winbo, Annika A; Cederquist, Kristina K; Jonasson, Jenni J; Jonsson, Björn-Anders BA; Diamant, Ulla-Britt UB; Jensen, Steen M SM; Rydberg, Annika A; Norberg, Anna A

Publication Date: 2012-10-25

Variant appearance in text: KCNH2: 3140G>T; R1047L; rs36210421

PubMed Link: 23098067

Variant Present in the following documents:

• 1471-2261-12-95-S2.pdf

View BVdb publication page

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Bidirectional ventricular tachycardia due to coronary allograft vasculopathy a unique presentation.

Annals Of Noninvasive Electrocardiology : The Official Journal Of The International Society For Holter And Noninvasive Electrocardiology, Inc

Bhavnani, Sanjeev P SP; Clyne, Christopher A CA

Publication Date: 2012-10

Variant appearance in text: HERG: R1047L

PubMed Link: 23094889

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: R1047L

PubMed Link: 22947121

Variant Present in the following documents:

• Main text

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Drug-induced QT interval prolongation: does ethnicity of the thorough QT study population matter?

British Journal Of Clinical Pharmacology

Shah, Rashmi R RR

Publication Date: 2013-02

Variant appearance in text: KCNH2: R1047L

PubMed Link: 22882246

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Cardiac channel molecular autopsy: insights from 173 consecutive cases of autopsy-negative sudden unexplained death referred for postmortem genetic testing.

Mayo Clinic Proceedings

Tester, David J DJ; Medeiros-Domingo, Argelia A; Will, Melissa L ML; Haglund, Carla M CM; Ackerman, Michael J MJ

Publication Date: 2012-06

Variant appearance in text: KCNH2: R1047L

PubMed Link: 22677073

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Repolarization recipes for atrial fibrillation: beyond single channel variants.

Journal Of The American College Of Cardiology

Darbar, Dawood D; Parvez, Babar B; Abraham, Robert R

Publication Date: 2012-03-13

Variant appearance in text: KCNH2: R1047L

PubMed Link: 22402075

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Unexplained drownings and the cardiac channelopathies: a molecular autopsy series.

Mayo Clinic Proceedings

Tester, David J DJ; Medeiros-Domingo, Argelia A; Will, Melissa L ML; Ackerman, Michael J MJ

Publication Date: 2011-10

Variant appearance in text: KCNH2: R1047L

PubMed Link: 21964171

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Genetic analysis of hyperpolarization-activated cyclic nucleotide-gated cation channels in sudden unexpected death in epilepsy cases.

Brain Pathology (Zurich, Switzerland)

Tu, Emily E; Waterhouse, Louise L; Duflou, Johan J; Bagnall, Richard D RD; Semsarian, Christopher C

Publication Date: 2011-11

Variant appearance in text: KCNH2: Arg1047Leu

PubMed Link: 21615589

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Post-mortem review and genetic analysis of sudden unexpected death in epilepsy (SUDEP) cases.

Brain Pathology (Zurich, Switzerland)

Tu, Emily E; Bagnall, Richard D RD; Duflou, Johan J; Semsarian, Christopher C

Publication Date: 2011-03

Variant appearance in text: KCNH2: Arg1047Leu; rs36210421

PubMed Link: 20875080

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Mutations in the cardiac L-type calcium channel associated with inherited J-wave syndromes and sudden cardiac death.

Heart Rhythm

Burashnikov, Elena E; Pfeiffer, Ryan R; Barajas-Martinez, Héctor H; Delpón, Eva E; Hu, Dan D; Desai, Mayurika M; Borggrefe, Martin M; Häissaguerre, Michel M; Kanter, Ronald R; Pollevick, Guido D GD; Guerchicoff, Alejandra A; Laiño, Ruben R; Marieb, Mark M; Nademanee, Koonlawee K; Nam, Gi-Byoung GB; Robles, Roberto R; Schimpf, Rainer R; Stapleton, Dwight D DD; Viskin, Sami S; Winters, Stephen S; Wolpert, Christian C; Zimmern, Samuel S; Veltmann, Christian C; Antzelevitch, Charles C

Publication Date: 2010-12

Variant appearance in text: KCNH2: R1047L

PubMed Link: 20817017

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KCNH2 pharmacogenomics summary.

Pharmacogenetics And Genomics

Oshiro, Connie C; Thorn, Caroline F CF; Roden, Dan M DM; Klein, Teri E TE; Altman, Russ B RB

Publication Date: 2010-12

Variant appearance in text: KCNH2: Arg1047Leu; rs36210421

PubMed Link: 20150828

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Genotype-phenotype aspects of type 2 long QT syndrome.

Journal Of The American College Of Cardiology

Shimizu, Wataru W; Moss, Arthur J AJ; Wilde, Arthur A M AA; Towbin, Jeffrey A JA; Ackerman, Michael J MJ; January, Craig T CT; Tester, David J DJ; Zareba, Wojciech W; Robinson, Jennifer L JL; Qi, Ming M; Vincent, G Michael GM; Kaufman, Elizabeth S ES; Hofman, Nynke N; Noda, Takashi T; Kamakura, Shiro S; Miyamoto, Yoshihiro Y; Shah, Samit S; Amin, Vinit V; Goldenberg, Ilan I; Andrews, Mark L ML; McNitt, Scott S

Publication Date: 2009-11-24

Variant appearance in text: KCNH2: R1047L

PubMed Link: 19926013

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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: R1047L

PubMed Link: 19673885

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In silico investigations on functional and haplotype tag SNPs associated with congenital long QT syndromes (LQTSs).

Genomic Medicine

Sudandiradoss, C C; Sethumadhavan, Rao R

Publication Date: 2008-12

Variant appearance in text: rs36210421

PubMed Link: 19214780

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Common candidate gene variants are associated with QT interval duration in the general population.

Journal Of Internal Medicine

Marjamaa, A A; Newton-Cheh, C C; Porthan, K K; Reunanen, A A; Lahermo, P P; Väänänen, H H; Jula, A A; Karanko, H H; Swan, H H; Toivonen, L L; Nieminen, M S MS; Viitasalo, M M; Peltonen, L L; Oikarinen, L L; Palotie, A A; Kontula, K K; Salomaa, V V

Publication Date: 2009-04

Variant appearance in text: KCNH2: R1047L; rs36210421

PubMed Link: 19019189

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Genetic polymorphisms in KCNQ1, HERG, KCNE1 and KCNE2 genes in the Chinese, Malay and Indian populations of Singapore.

British Journal Of Clinical Pharmacology

Koo, Seok Hwee SH; Ho, Woon Fei WF; Lee, Edmund Jon Deoon EJ

Publication Date: 2006-03

Variant appearance in text: HERG: R1047L

PubMed Link: 16487223

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