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: 22A>G; rs2234916

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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Pharmacogenomics in drug-induced cardiotoxicity: Current status and the future.

Frontiers In Cardiovascular Medicine

Li, Mo-Yun MY; Peng, Li-Ming LM; Chen, Xiao-Ping XP

Publication Date: 2022

Variant appearance in text: KCNE2: 22A>G

PubMed Link: 36312261

Variant Present in the following documents:

• Main text
• fcvm-09-966261.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: KCNE2: 22A>G; T8A; rs2234916

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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Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience

Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD

Publication Date: 2022-02

Variant appearance in text: KCNE2: T8A; rs2234916

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9

View BVdb publication page

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Reanalysis and reclassification of rare genetic variants associated with inherited arrhythmogenic syndromes.

Ebiomedicine

Campuzano, Oscar O; Sarquella-Brugada, Georgia G; Fernandez-Falgueras, Anna A; Coll, Mónica M; Iglesias, Anna A; Ferrer-Costa, Carles C; Cesar, Sergi S; Arbelo, Elena E; García-Álvarez, Ana A; Jordà, Paloma P; Toro, Rocío R; Tiron de Llano, Coloma C; Grassi, Simone S; Oliva, Antonio A; Brugada, Josep J; Brugada, Ramon R

Publication Date: 2020-04

Variant appearance in text: KCNE2: 22A>G; rs2234916

PubMed Link: 32268277

Variant Present in the following documents:

• Main text
• main.pdf

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: KCNE2: T8A; rs2234916

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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An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation

Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,

Publication Date: 2019-01-01

Variant appearance in text: KCNE2: 22A>G; Thr8Ala

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

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Screening for germline KCNQ1 and KCNE2 mutations in a set of somatotropinoma patients.

Endocrine Connections

Iivonen, Anna-Pauliina AP; Känsäkoski, Johanna J; Karppinen, Atte A; Kivipelto, Leena L; Schalin-Jäntti, Camilla C; Karhu, Auli A; Raivio, Taneli T

Publication Date: 2018-05

Variant appearance in text: KCNE2: 22A>G; rs2234916

PubMed Link: 29703730

Variant Present in the following documents:

• Main text

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: 22A>G; Thr8Ala

PubMed Link: 29672598

Variant Present in the following documents:

• Main text
• pone.0196078.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: KCNE2: Thr8Ala

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: KCNE2: 22A>G; Thr8Ala

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.

Scientific Reports

Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE

Publication Date: 2017-04-25

Variant appearance in text: KCNE2: T8A; rs2234916

PubMed Link: 28440294

Variant Present in the following documents:

• srep46105-s2.xls, sheet 6
• srep46105-s2.xls, sheet 8

View BVdb publication page

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Natural and Undetermined Sudden Death: Value of Post-Mortem Genetic Investigation.

Plos One

Sanchez, Olallo O; Campuzano, Oscar O; Fernández-Falgueras, Anna A; Sarquella-Brugada, Georgia G; Cesar, Sergi S; Mademont, Irene I; Mates, Jesus J; Pérez-Serra, Alexandra A; Coll, Monica M; Pico, Ferran F; Iglesias, Anna A; Tirón, Coloma C; Allegue, Catarina C; Carro, Esther E; Gallego, María Ángeles MÁ; Ferrer-Costa, Carles C; Hospital, Anna A; Bardalet, Narcís N; Borondo, Juan Carlos JC; Vingut, Albert A; Arbelo, Elena E; Brugada, Josep J; Castellà, Josep J; Medallo, Jordi J; Brugada, Ramon R

Publication Date: 2016

Variant appearance in text: KCNE2: 22A>G; T8A; rs2234916

PubMed Link: 27930701

Variant Present in the following documents:

• Main text
• pone.0167358.pdf

View BVdb publication page

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Atrial arrhythmias in inherited arrhythmogenic disorders.

Journal Of Arrhythmia

Hasdemir, Can C

Publication Date: 2016-10

Variant appearance in text: KCNE2: Thr8Ala

PubMed Link: 27761160

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Elucidating Genomic Characteristics of Lung Cancer Progression from In Situ to Invasive Adenocarcinoma.

Scientific Reports

Vinayanuwattikun, Chanida C; Le Calvez-Kelm, Florence F; Abedi-Ardekani, Behnoush B; Zaridze, David D; Mukeria, Anush A; Voegele, Catherine C; Vallée, Maxime M; Purnomosari, Dewajani D; Forey, Nathalie N; Durand, Geoffroy G; Byrnes, Graham G; Mckay, James J; Brennan, Paul P; Scelo, Ghislaine G

Publication Date: 2016-08-22

Variant appearance in text: KCNE2: T8A

PubMed Link: 27545006

Variant Present in the following documents:

• srep31628-s2.xls, sheet 2

View BVdb publication page

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Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Nature Communications

Cereda, Matteo M; Gambardella, Gennaro G; Benedetti, Lorena L; Iannelli, Fabio F; Patel, Dominic D; Basso, Gianluca G; Guerra, Rosalinda F RF; Mourikis, Thanos P TP; Puccio, Ignazio I; Sinha, Shruti S; Laghi, Luigi L; Spencer, Jo J; Rodriguez-Justo, Manuel M; Ciccarelli, Francesca D FD

Publication Date: 2016-07-05

Variant appearance in text: KCNE2: T8A

PubMed Link: 27377421

Variant Present in the following documents:

• ncomms12072-s6.xlsx, sheet 1

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: rs2234916

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Whole-Genome Sequencing Suggests Schizophrenia Risk Mechanisms in Humans with 22q11.2 Deletion Syndrome.

G3 (Bethesda, Md.)

Merico, Daniele D; Zarrei, Mehdi M; Costain, Gregory G; Ogura, Lucas L; Alipanahi, Babak B; Gazzellone, Matthew J MJ; Butcher, Nancy J NJ; Thiruvahindrapuram, Bhooma B; Nalpathamkalam, Thomas T; Chow, Eva W C EW; Andrade, Danielle M DM; Frey, Brendan J BJ; Marshall, Christian R CR; Scherer, Stephen W SW; Bassett, Anne S AS

Publication Date: 2015-09-16

Variant appearance in text: KCNE2: T8A; rs2234916

PubMed Link: 26384369

Variant Present in the following documents:

• supp_g3.115.021345_TableS1.xlsx, sheet 1

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: KCNE2: T8A; rs2234916

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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Analysis of common and coding variants with cardiovascular disease in the Diabetes Heart Study.

Cardiovascular Diabetology

Adams, Jeremy N JN; Raffield, Laura M LM; Freedman, Barry I BI; Langefeld, Carl D CD; Ng, Maggie C Y MC; Carr, J Jeffrey JJ; Cox, Amanda J AJ; Bowden, Donald W DW

Publication Date: 2014-04-12

Variant appearance in text: rs2234916

PubMed Link: 24725463

Variant Present in the following documents:

• 1475-2840-13-77-S1.xls, sheet 1

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: T8A

PubMed Link: 24448499

Variant Present in the following documents:

• NIHMS551112-supplement-9.xlsx, sheet 1
• NIHMS551112-supplement-7.xlsx, sheet 1

View BVdb publication page

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KCNE genetics and pharmacogenomics in cardiac arrhythmias: much ado about nothing?

Expert Review Of Clinical Pharmacology

Abbott, Geoffrey W GW

Publication Date: 2013-01

Variant appearance in text: rs2234916

PubMed Link: 23272793

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: 22A>G; T8A; rs2234916

PubMed Link: 23098067

Variant Present in the following documents:

• 1471-2261-12-95-S2.pdf

View BVdb publication page

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Prevalence of Significant Genetic Variants in Congenital Long QT Syndrome is Largely Underestimated.

Frontiers In Pharmacology

Zaklyazminskaya, Elena V EV; Abriel, Hugues H

Publication Date: 2012

Variant appearance in text: KCNE2: T8A

PubMed Link: 22557970

Variant Present in the following documents:

• Main text

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: 22A>G

PubMed Link: 22378279

Variant Present in the following documents:

• Main text

View BVdb publication page

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The KCNE genes in hypertrophic cardiomyopathy: a candidate gene study.

Journal Of Negative Results In Biomedicine

Hedley, Paula L PL; Haundrup, Ole O; Andersen, Paal S PS; Aidt, Frederik H FH; Jensen, Morten M; Moolman-Smook, Johanna C JC; Bundgaard, Henning H; Christiansen, Michael M

Publication Date: 2011-10-03

Variant appearance in text: KCNE2: 22A>G; T8A; rs2234916

PubMed Link: 21967835

Variant Present in the following documents:

• Main text
• 1477-5751-10-12.pdf

View BVdb publication page

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Common variants in cardiac ion channel genes are associated with sudden cardiac death.

Circulation. Arrhythmia And Electrophysiology

Albert, Christine M CM; MacRae, Calum A CA; Chasman, Daniel I DI; VanDenburgh, Martin M; Buring, Julie E JE; Manson, JoAnn E JE; Cook, Nancy R NR; Newton-Cheh, Christopher C

Publication Date: 2010-06

Variant appearance in text: rs2234916

PubMed Link: 20400777

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: rs2234916

PubMed Link: 19214780

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: rs2234916

PubMed Link: 19019189

Variant Present in the following documents:

• Main text

View BVdb publication page

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Confirmation of associations between ion channel gene SNPs and QTc interval duration in healthy subjects.

European Journal Of Human Genetics : Ejhg

Gouas, L L; Nicaud, V V; Chaouch, S S; Berthet, M M; Forhan, A A; Tichet, J J; Tiret, L L; Balkau, B B; Guicheney, P P

Publication Date: 2007-09

Variant appearance in text: rs2234916

PubMed Link: 17534376

Variant Present in the following documents:

• Main text

View BVdb publication page

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