Publications:

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Whole-exome sequencing analyses in a Saudi Ischemic Stroke Cohort reveal association signals, and shows polygenic risk scores are related to Modified Rankin Scale Risk.

Functional & Integrative Genomics

Alkhamis, Fahad A FA; Alabdali, Majed M MM; Alsulaiman, Abdulla A AA; Alamri, Abdullah S AS; Alali, Rudaynah R; Akhtar, Mohammed S MS; Alsalman, Sadiq A SA; Cyrus, Cyril C; Albakr, Aishah I AI; Alduhalan, Anas S AS; Gandla, Divya D; Al-Romaih, Khaldoun K; Abouelhoda, Mohamed M; Loza, Bao-Li BL; Keating, Brendan B; Al-Ali, Amein K AK

Publication Date: 2023-03-27

Variant appearance in text: KCNE2: 170T>C; rs74315448

PubMed Link: 36973604

Variant Present in the following documents:

• 10142_2023_1039_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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A Phase II Trial of Guadecitabine plus Atezolizumab in Metastatic Urothelial Carcinoma Progressing after Initial Immune Checkpoint Inhibitor Therapy.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Jang, H Josh HJ; Hostetter, Galen G; MacFarlane, Alexander W AW; Madaj, Zachary Z; Ross, Eric A EA; Hinoue, Toshinori T; Kulchycki, Justin R JR; Burgos, Ryan S RS; Tafseer, Mahvish M; Alpaugh, R Katherine RK; Schwebel, Candice L CL; Kokate, Rutika R; Geynisman, Daniel M DM; Zibelman, Matthew R MR; Ghatalia, Pooja P; Nichols, Peter W PW; Chung, Woonbok W; Madzo, Jozef J; Hahn, Noah M NM; Quinn, David I DI; Issa, Jean-Pierre J JJ; Topper, Michael J MJ; Baylin, Stephen B SB; Shen, Hui H; Campbell, Kerry S KS; Jones, Peter A PA; Plimack, Elizabeth R ER

Publication Date: 2023-03-16

Variant appearance in text: KCNE2: I57T

PubMed Link: 36928921

Variant Present in the following documents:

• ccr-22-3642_supplementary_tables_1_suppts1.xlsx, sheet 3

View BVdb publication page

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Circulating messenger RNA variants as a potential biomarker for surveillance of hepatocellular carcinoma.

Frontiers In Oncology

Block, Timothy T; Zezulinski, Daniel D; Kaplan, David E DE; Lu, Jingqiao J; Zanine, Samantha S; Zhan, Tingting T; Doria, Cataldo C; Sayeed, Aejaz A

Publication Date: 2022

Variant appearance in text: rs74315448

PubMed Link: 36582804

Variant Present in the following documents:

• Table_6.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: KCNE2: 170T>C; I57T; rs74315448

PubMed Link: 35932045

Variant Present in the following documents:

• Main text
• 40246_2022_Article_402.pdf
• 40246_2022_402_MOESM8_ESM.xlsx, sheet 1
• 40246_2022_402_MOESM4_ESM.xlsx, sheet 1
• 40246_2022_402_MOESM5_ESM.xlsx, sheet 1

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Arrhythmogenic Effects of Genetic Mutations Affecting Potassium Channels in Human Atrial Fibrillation: A Simulation Study.

Frontiers In Physiology

Belletti, Rebecca R; Romero, Lucia L; Martinez-Mateu, Laura L; Cherry, Elizabeth M EM; Fenton, Flavio H FH; Saiz, Javier J

Publication Date: 2021

Variant appearance in text: KCNE2: I57T

PubMed Link: 34135774

Variant Present in the following documents:

• Main text
• fphys-12-681943.pdf

View BVdb publication page

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Pediatric Malignant Arrhythmias Caused by Rare Homozygous Genetic Variants in TRDN: A Comprehensive Interpretation.

Frontiers In Pediatrics

Sarquella-Brugada, Georgia G; Fernandez-Falgueras, Anna A; Cesar, Sergi S; Arbelo, Elena E; Jordà, Paloma P; García-Álvarez, Ana A; Cruzalegui, Jose Carlos JC; Merchan, Erika Fernanda EF; Fiol, Victoria V; Brugada, Josep J; Brugada, Ramon R; Campuzano, Oscar O

Publication Date: 2020

Variant appearance in text: KCNE2: 170T>C; Ile57Thr

PubMed Link: 33692971

Variant Present in the following documents:

• Main text
• fped-08-601708.pdf

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: KCNE2: 170T>C; Ile57Thr

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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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: KCNE2: 170T>C; Ile57Thr; rs74315448

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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An International, Multicentered, Evidence-Based Reappraisal of Genes Reported to Cause Congenital Long QT Syndrome.

Circulation

Adler, Arnon A; Novelli, Valeria V; Amin, Ahmad S AS; Abiusi, Emanuela E; Care, Melanie M; Nannenberg, Eline A EA; Feilotter, Harriet H; Amenta, Simona S; Mazza, Daniela D; Bikker, Hennie H; Sturm, Amy C AC; Garcia, John J; Ackerman, Michael J MJ; Hershberger, Raymond E RE; Perez, Marco V MV; Zareba, Wojciech W; Ware, James S JS; Wilde, Arthur A M AAM; Gollob, Michael H MH

Publication Date: 2020-02-11

Variant appearance in text: KCNE2: Ile57Thr

PubMed Link: 31983240

Variant Present in the following documents:

• cir-141-418-s001.pdf

View BVdb publication page

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The GenomeAsia 100K Project enables genetic discoveries across Asia.

Nature

,

Publication Date: 2019-12

Variant appearance in text: KCNE2: 170T>C; Ile57Thr; rs74315448

PubMed Link: 31802016

Variant Present in the following documents:

• 41586_2019_1793_MOESM3_ESM.xlsx, sheet 14
• 41586_2019_1793_MOESM3_ESM.xlsx, sheet 15

View BVdb publication page

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A Rare Case of the Digenic Inheritance of Long QT Syndrome Type 2 and Type 6.

Case Reports In Medicine

Heida, Annejet A; van der Does, Lisette J M E LJME; Ragab, Ahmed A Y AAY; de Groot, Natasja M S NMS

Publication Date: 2019

Variant appearance in text: LQT6: 170T>C

PubMed Link: 31320904

Variant Present in the following documents:

• CRIM2019-1384139.pdf

View BVdb publication page

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Mutations of Voltage-Gated Ionic Channels and Risk of Severe Cardiac Arrhythmias.

Acta Cardiologica Sinica

Dehghani-Samani, Amir A; Madreseh-Ghahfarokhi, Samin S; Dehghani-Samani, Azam A

Publication Date: 2019-03

Variant appearance in text: KCNE2: I57T

PubMed Link: 30930557

Variant Present in the following documents:

• Main text

View BVdb publication page

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Large next-generation sequencing gene panels in genetic heart disease: yield of pathogenic variants and variants of unknown significance.

Netherlands Heart Journal : Monthly Journal Of The Netherlands Society Of Cardiology And The Netherlands Heart Foundation

van Lint, F H M FHM; Mook, O R F ORF; Alders, M M; Bikker, H H; Lekanne Dit Deprez, R H RH; Christiaans, I I

Publication Date: 2019-06

Variant appearance in text: KCNE2: 170T>C; Ile57Thr; rs74315448

PubMed Link: 30847666

Variant Present in the following documents:

• 12471_2019_1250_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: KCNE2: I57T; rs74315448

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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A unique triadin exon deletion causing a null phenotype.

Heartrhythm Case Reports

O'Callaghan, Barry M BM; Hancox, Jules C JC; Stuart, Alan G AG; Armstrong, Catherine C; Williams, Maggie M MM; Hills, Alison A; Pearce, Hazel H; Dent, Carolyn L CL; Gable, Mary M; Walsh, Mark A MA

Publication Date: 2018-11

Variant appearance in text: KCNE2: Ile57Thr

PubMed Link: 30479949

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Long QT molecular autopsy in sudden unexplained death in the young (1-40 years old): Lessons learnt from an eight year experience in New Zealand.

Plos One

Marcondes, Luciana L; Crawford, Jackie J; Earle, Nikki N; Smith, Warren W; Hayes, Ian I; Morrow, Paul P; Donoghue, Tom T; Graham, Amanda A; Love, Donald D; Skinner, Jonathan R JR; ,

Publication Date: 2018

Variant appearance in text: KCNE2: 170T>C; I57T

PubMed Link: 29672598

Variant Present in the following documents:

• Main text
• pone.0196078.pdf

View BVdb publication page

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The genetic architecture of long QT syndrome: A critical reappraisal.

Trends In Cardiovascular Medicine

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

Publication Date: 2018-10

Variant appearance in text: KCNE2: Ile57Thr

PubMed Link: 29661707

Variant Present in the following documents:

• Main text

View BVdb publication page

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Estimating the mutational load for cardiovascular diseases in Pakistani population.

Plos One

Shakeel, Muhammad M; Irfan, Muhammad M; Khan, Ishtiaq Ahmad IA

Publication Date: 2018

Variant appearance in text: KCNE2: 170T>C; rs74315448

PubMed Link: 29420653

Variant Present in the following documents:

• pone.0192446.s009.xlsx, sheet 2

View BVdb publication page

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Targeted next generation sequencing in a young population with suspected inherited malignant cardiac arrhythmias.

European Journal Of Human Genetics : Ejhg

Broendberg, Anders Krogh AK; Christiansen, Morten Krogh MK; Nielsen, Jens Cosedis JC; Pedersen, Lisbeth Noerum LN; Jensen, Henrik Kjaerulf HK

Publication Date: 2018-03

Variant appearance in text: KCNE2: 170T>C; Ile57Thr

PubMed Link: 29343803

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: KCNE2: 170T>C; Ile57Thr

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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The Qatar genome: a population-specific tool for precision medicine in the Middle East.

Human Genome Variation

Fakhro, Khalid A KA; Staudt, Michelle R MR; Ramstetter, Monica Denise MD; Robay, Amal A; Malek, Joel A JA; Badii, Ramin R; Al-Marri, Ajayeb Al-Nabet AA; Abi Khalil, Charbel C; Al-Shakaki, Alya A; Chidiac, Omar O; Stadler, Dora D; Zirie, Mahmoud M; Jayyousi, Amin A; Salit, Jacqueline J; Mezey, Jason G JG; Crystal, Ronald G RG; Rodriguez-Flores, Juan L JL

Publication Date: 2016

Variant appearance in text: rs74315448

PubMed Link: 27408750

Variant Present in the following documents:

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: LQT6: I57T; rs74315448

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Exome analysis of a family with Wolff-Parkinson-White syndrome identifies a novel disease locus.

American Journal Of Medical Genetics. Part A

Bowles, Neil E NE; Jou, Chuanchau J CJ; Arrington, Cammon B CB; Kennedy, Brett J BJ; Earl, Aubree A; Matsunami, Norisada N; Meyers, Lindsay L LL; Etheridge, Susan P SP; Saarel, Elizabeth V EV; Bleyl, Steven B SB; Yost, H Joseph HJ; Yandell, Mark M; Leppert, Mark F MF; Tristani-Firouzi, Martin M; Gruber, Peter J PJ; ,

Publication Date: 2015-12

Variant appearance in text: KCNE2: 170T>C; Ile57Thr; rs74315448

PubMed Link: 26284702

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: KCNE2: I57T

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

View BVdb publication page

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Ion Channels in the Heart.

Comprehensive Physiology

Bartos, Daniel C DC; Grandi, Eleonora E; Ripplinger, Crystal M CM

Publication Date: 2015-07-01

Variant appearance in text: KCNE2: I57T

PubMed Link: 26140724

Variant Present in the following documents:

• Main text

View BVdb publication page

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Mutations in Danish patients with long QT syndrome and the identification of a large founder family with p.F29L in KCNH2.

Bmc Medical Genetics

Christiansen, Michael M; Hedley, Paula L PL; Theilade, Juliane J; Stoevring, Birgitte B; Leren, Trond P TP; Eschen, Ole O; Sørensen, Karina M KM; Tybjærg-Hansen, Anne A; Ousager, Lilian B LB; Pedersen, Lisbeth N LN; Frikke-Schmidt, Ruth R; Aidt, Frederik H FH; Hansen, Michael G MG; Hansen, Jim J; Bloch Thomsen, Poul E PE; Toft, Egon E; Henriksen, Finn L FL; Bundgaard, Henning H; Jensen, Henrik K HK; Kanters, Jørgen K JK

Publication Date: 2014-03-07

Variant appearance in text: KCNE2: 170T>C

PubMed Link: 24606995

Variant Present in the following documents:

• Main text

View BVdb publication page

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Arrhythmogenic KCNE gene variants: current knowledge and future challenges.

Frontiers In Genetics

Crump, Shawn M SM; Abbott, Geoffrey W GW

Publication Date: 2014

Variant appearance in text: KCNE2: I57T

PubMed Link: 24478792

Variant Present in the following documents:

• Main text
• fgene-05-00003.pdf

View BVdb publication page

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Integrated analysis of germline and somatic variants in ovarian cancer.

Nature Communications

Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L

Publication Date: 2014

Variant appearance in text: KCNE2: I57T

PubMed Link: 24448499

Variant Present in the following documents:

• NIHMS551112-supplement-7.xlsx, 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: KCNE2: I57T

PubMed Link: 23834499

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: KCNE2: 170T>C; I57T

PubMed Link: 23098067

Variant Present in the following documents:

• Main text
• 1471-2261-12-95.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: KCNE2: I57T

PubMed Link: 22378279

Variant Present in the following documents:

• Main text

View BVdb publication page

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KCNE2 modulation of Kv4.3 current and its potential role in fatal rhythm disorders.

Heart Rhythm

Wu, Jie J; Shimizu, Wataru W; Ding, Wei-Guang WG; Ohno, Seiko S; Toyoda, Futoshi F; Itoh, Hideki H; Zang, Wei-Jin WJ; Miyamoto, Yoshihiro Y; Kamakura, Shiro S; Matsuura, Hiroshi H; Nademanee, Koonlawee K; Brugada, Josep J; Brugada, Pedro P; Brugada, Ramon R; Vatta, Matteo M; Towbin, Jeffrey A JA; Antzelevitch, Charles C; Horie, Minoru M

Publication Date: 2010

Variant appearance in text: KCNE2: I57T

PubMed Link: 20042375

Variant Present in the following documents:

• Main text

View BVdb publication page

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Prevalence of the congenital long-QT syndrome.

Circulation

Schwartz, Peter J PJ; Stramba-Badiale, Marco M; Crotti, Lia L; Pedrazzini, Matteo M; Besana, Alessandra A; Bosi, Giuliano G; Gabbarini, Fulvio F; Goulene, Karine K; Insolia, Roberto R; Mannarino, Savina S; Mosca, Fabio F; Nespoli, Luigi L; Rimini, Alessandro A; Rosati, Enrico E; Salice, Patrizia P; Spazzolini, Carla C

Publication Date: 2009-11-03

Variant appearance in text: KCNE2: I57T

PubMed Link: 19841298

Variant Present in the following documents:

• Main text

View BVdb publication page

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Molecular determinants of repolarization time.

Experimental And Clinical Cardiology

Swynghedauw, Bernard B; Aubert, Gaele G

Publication Date: 2003

Variant appearance in text: KCNE2: I57T

PubMed Link: 19641702

Variant Present in the following documents:

• Main text

View BVdb publication page

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Regulation of the Kv2.1 potassium channel by MinK and MiRP1.

The Journal Of Membrane Biology

McCrossan, Zoe A ZA; Roepke, Torsten K TK; Lewis, Anthony A; Panaghie, Gianina G; Abbott, Geoffrey W GW

Publication Date: 2009-03

Variant appearance in text: MiRP1: I57T

PubMed Link: 19219384

Variant Present in the following documents:

• Main text

View BVdb publication page

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Drug-induced torsades de pointes and implications for drug development.

Journal Of Cardiovascular Electrophysiology

Fenichel, Robert R RR; Malik, Marek M; Antzelevitch, Charles C; Sanguinetti, Michael M; Roden, Dan M DM; Priori, Silvia G SG; Ruskin, Jeremy N JN; Lipicky, Raymond J RJ; Cantilena, Louis R LR; ,

Publication Date: 2004-04

Variant appearance in text: KCNE2: I57T

PubMed Link: 15090000

Variant Present in the following documents:

• Main text

View BVdb publication page

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Andersen syndrome: the newest variant of the hereditary-familial long QT syndrome.

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

Ricardo Pérez Riera, Andrés A; Ferreira, Celso C; Dubner, Sérgio J SJ; Schapachnik, Edgardo E

Publication Date: 2004-04

Variant appearance in text: KCNE2: ILE57THR

PubMed Link: 15084216

Variant Present in the following documents:

• Main text

View BVdb publication page

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KCNE2 confers background current characteristics to the cardiac KCNQ1 potassium channel.

The Embo Journal

Tinel, N N; Diochot, S S; Borsotto, M M; Lazdunski, M M; Barhanin, J J

Publication Date: 2000-12-01

Variant appearance in text: KCNE2: I57T

PubMed Link: 11101505

Variant Present in the following documents:

• Main text

View BVdb publication page

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A common polymorphism associated with antibiotic-induced cardiac arrhythmia.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Sesti, F F; Abbott, G W GW; Wei, J J; Murray, K T KT; Saksena, S S; Schwartz, P J PJ; Priori, S G SG; Roden, D M DM; George, A L AL; Goldstein, S A SA

Publication Date: 2000-09-12

Variant appearance in text: MiRP1: I57T

PubMed Link: 10984545

Variant Present in the following documents:

• Main text

View BVdb publication page

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