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: 2987A>T; rs199473018

PubMed Link: 37324772

Variant Present in the following documents:

• Main text
• JOA3-39-430.pdf

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Assessment of absolute risk of life-threatening cardiac events in long QT syndrome patients.

Frontiers In Cardiovascular Medicine

Wang, Meng M; Peterson, Derick R DR; Pagan, Eleonora E; Bagnardi, Vincenzo V; Mazzanti, Andrea A; McNitt, Scott S; Rich, David Q DQ; Seplaki, Christopher L CL; Kutyifa, Valentina V; Polonsky, Bronislava B; Barsheshet, Alon A; Kukavica, Deni D; Rosero, Spencer S; Goldenberg, Ilan I; Priori, Silvia S; Zareba, Wojciech W

Publication Date: 2022

Variant appearance in text: LQT2: N996I

PubMed Link: 36277779

Variant Present in the following documents:

• Data_Sheet_1.pdf

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Pharmacological activation of the hERG K+ channel for the management of the long QT syndrome: A review.

Journal Of Arrhythmia

El Harchi, Aziza A; Brincourt, Oriane O

Publication Date: 2022-08

Variant appearance in text: LQT2: N996I

PubMed Link: 35936037

Variant Present in the following documents:

• Main text
• JOA3-38-554.pdf

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Deciphering Common Long QT Syndrome Using CRISPR/Cas9 in Human-Induced Pluripotent Stem Cell-Derived Cardiomyocytes.

Frontiers In Cardiovascular Medicine

Song, Yongfei Y; Zheng, Zequn Z; Lian, Jiangfang J

Publication Date: 2022

Variant appearance in text: KCNH2: N996I

PubMed Link: 35647048

Variant Present in the following documents:

• Main text
• fcvm-09-889519.pdf

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What Is the Potential for Lumacaftor as a Chemical Chaperone in Promoting hERG Trafficking?

Frontiers In Cardiovascular Medicine

Zheng, Zequn Z; Song, Yongfei Y; Lian, Jiangfang J

Publication Date: 2022

Variant appearance in text: KCNH2: N996I

PubMed Link: 35282377

Variant Present in the following documents:

• Main text
• fcvm-09-801927.pdf

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The Linkage Phase of the Polymorphism KCNH2-K897T Influences the Electrophysiological Phenotype in hiPSC Models of LQT2.

Frontiers In Physiology

van den Brink, Lettine L; Brandão, Karina O KO; Yiangou, Loukia L; Blanch-Asensio, Albert A; Mol, Mervyn P H MPH; Mummery, Christine L CL; Verkerk, Arie O AO; Davis, Richard P RP

Publication Date: 2021

Variant appearance in text: KCNH2: N996I

PubMed Link: 34992545

Variant Present in the following documents:

• Main text
• Presentation_1.pdf
• fphys-12-755642.pdf

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Ventricular voltage-gated ion channels: Detection, characteristics, mechanisms, and drug safety evaluation.

Clinical And Translational Medicine

Chen, Lulan L; He, Yue Y; Wang, Xiangdong X; Ge, Junbo J; Li, Hua H

Publication Date: 2021-10

Variant appearance in text: Kv11.1: N996I

PubMed Link: 34709746

Variant Present in the following documents:

• Main text
• CTM2-11-e530.pdf

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Towards Mutation-Specific Precision Medicine in Atypical Clinical Phenotypes of Inherited Arrhythmia Syndromes.

International Journal Of Molecular Sciences

Nakajima, Tadashi T; Tamura, Shuntaro S; Kurabayashi, Masahiko M; Kaneko, Yoshiaki Y

Publication Date: 2021-04-10

Variant appearance in text: KCNH2: N996I

PubMed Link: 33920294

Variant Present in the following documents:

• Main text

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Isogenic Sets of hiPSC-CMs Harboring Distinct KCNH2 Mutations Differ Functionally and in Susceptibility to Drug-Induced Arrhythmias.

Stem Cell Reports

Brandão, Karina O KO; van den Brink, Lettine L; Miller, Duncan C DC; Grandela, Catarina C; van Meer, Berend J BJ; Mol, Mervyn P H MPH; de Korte, Tessa T; Tertoolen, Leon G J LGJ; Mummery, Christine L CL; Sala, Luca L; Verkerk, Arie O AO; Davis, Richard P RP

Publication Date: 2020-11-10

Variant appearance in text: KCNH2: 2987A>T

PubMed Link: 33176122

Variant Present in the following documents:

• Main text
• mmc3.pdf
• mmc1.pdf
• main.pdf

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Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls.

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

Walsh, Roddy R; Lahrouchi, Najim N; Tadros, Rafik R; Kyndt, Florence F; Glinge, Charlotte C; Postema, Pieter G PG; Amin, Ahmad S AS; Nannenberg, Eline A EA; Ware, James S JS; Whiffin, Nicola N; Mazzarotto, Francesco F; Škorić-Milosavljević, Doris D; Krijger, Christian C; Arbelo, Elena E; Babuty, Dominique D; Barajas-Martinez, Hector H; Beckmann, Britt M BM; Bézieau, Stéphane S; Bos, J Martijn JM; Breckpot, Jeroen J; Campuzano, Oscar O; Castelletti, Silvia S; Celen, Candan C; Clauss, Sebastian S; Corveleyn, Anniek A; Crotti, Lia L; Dagradi, Federica F; de Asmundis, Carlo C; Denjoy, Isabelle I; Dittmann, Sven S; Ellinor, Patrick T PT; Ortuño, Cristina Gil CG; Giustetto, Carla C; Gourraud, Jean-Baptiste JB; Hazeki, Daisuke D; Horie, Minoru M; Ishikawa, Taisuke T; Itoh, Hideki H; Kaneko, Yoshiaki Y; Kanters, Jørgen K JK; Kimoto, Hiroki H; Kotta, Maria-Christina MC; Krapels, Ingrid P C IPC; Kurabayashi, Masahiko M; Lazarte, Julieta J; Leenhardt, Antoine A; Loeys, Bart L BL; Lundin, Catarina C; Makiyama, Takeru T; Mansourati, Jacques J; Martins, Raphaël P RP; Mazzanti, Andrea A; Mörner, Stellan S; Napolitano, Carlo C; Ohkubo, Kimie K; Papadakis, Michael M; Rudic, Boris B; Molina, Maria Sabater MS; Sacher, Frédéric F; Sahin, Hatice H; Sarquella-Brugada, Georgia G; Sebastiano, Regina R; Sharma, Sanjay S; Sheppard, Mary N MN; Shimamoto, Keiko K; Shoemaker, M Benjamin MB; Stallmeyer, Birgit B; Steinfurt, Johannes J; Tanaka, Yuji Y; Tester, David J DJ; Usuda, Keisuke K; van der Zwaag, Paul A PA; Van Dooren, Sonia S; Van Laer, Lut L; Winbo, Annika A; Winkel, Bo G BG; Yamagata, Kenichiro K; Zumhagen, Sven S; Volders, Paul G A PGA; Lubitz, Steven A SA; Antzelevitch, Charles C; Platonov, Pyotr G PG; Odening, Katja E KE; Roden, Dan M DM; Roberts, Jason D JD; Skinner, Jonathan R JR; Tfelt-Hansen, Jacob J; van den Berg, Maarten P MP; Olesen, Morten S MS; Lambiase, Pier D PD; Borggrefe, Martin M; Hayashi, Kenshi K; Rydberg, Annika A; Nakajima, Tadashi T; Yoshinaga, Masao M; Saenen, Johan B JB; Kääb, Stefan S; Brugada, Pedro P; Robyns, Tomas T; Giachino, Daniela F DF; Ackerman, Michael J MJ; Brugada, Ramon R; Brugada, Josep J; Gimeno, Juan R JR; Hasdemir, Can C; Guicheney, Pascale P; Priori, Silvia G SG; Schulze-Bahr, Eric E; Makita, Naomasa N; Schwartz, Peter J PJ; Shimizu, Wataru W; Aiba, Takeshi T; Schott, Jean-Jacques JJ; Redon, Richard R; Ohno, Seiko S; Probst, Vincent V; , ; Behr, Elijah R ER; Barc, Julien J; Bezzina, Connie R CR

Publication Date: 2021-01

Variant appearance in text: KCNH2: 2987A>T; Asn996Ile

PubMed Link: 32893267

Variant Present in the following documents:

• 41436_2020_946_MOESM2_ESM.xlsx, sheet 12
• 41436_2020_946_MOESM2_ESM.xlsx, sheet 4
• 41436_2020_946_MOESM2_ESM.xlsx, sheet 10

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Modeling Cardiac Disease Mechanisms Using Induced Pluripotent Stem Cell-Derived Cardiomyocytes: Progress, Promises and Challenges.

International Journal Of Molecular Sciences

Parrotta, Elvira Immacolata EI; Lucchino, Valeria V; Scaramuzzino, Luana L; Scalise, Stefania S; Cuda, Giovanni G

Publication Date: 2020-06-19

Variant appearance in text: KCNH2: N996I

PubMed Link: 32575374

Variant Present in the following documents:

• Main text
• ijms-21-04354.pdf

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Inherited cardiac diseases, pluripotent stem cells, and genome editing combined-the past, present, and future.

Stem Cells (Dayton, Ohio)

van den Brink, Lettine L; Grandela, Catarina C; Mummery, Christine L CL; Davis, Richard P RP

Publication Date: 2020-02

Variant appearance in text: LQT2: N996I

PubMed Link: 31664757

Variant Present in the following documents:

• STEM-38-174-s001.pdf

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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: 2987A>T; N996I

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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Long QT Syndrome: Genetics and Future Perspective.

Pediatric Cardiology

Wallace, Eimear E; Howard, Linda L; Liu, Min M; O'Brien, Timothy T; Ward, Deirdre D; Shen, Sanbing S; Prendiville, Terence T

Publication Date: 2019-10

Variant appearance in text: KCNH2: N996I

PubMed Link: 31440766

Variant Present in the following documents:

• Main text
• 246_2019_Article_2151.pdf

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: KCNH2: N996I

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Large-Scale Simulation of the Phenotypical Variability Induced by Loss-of-Function Long QT Mutations in Human Induced Pluripotent Stem Cell Cardiomyocytes.

International Journal Of Molecular Sciences

Paci, Michelangelo M; Casini, Simona S; Bellin, Milena M; Hyttinen, Jari J; Severi, Stefano S

Publication Date: 2018-11-13

Variant appearance in text: KCNH2: N996I

PubMed Link: 30428582

Variant Present in the following documents:

• Main text
• ijms-19-03583.pdf

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Modelling inherited cardiac disease using human induced pluripotent stem cell-derived cardiomyocytes: progress, pitfalls, and potential.

Cardiovascular Research

van Mil, Alain A; Balk, Geerthe Margriet GM; Neef, Klaus K; Buikema, Jan Willem JW; Asselbergs, Folkert W FW; Wu, Sean M SM; Doevendans, Pieter A PA; Sluijter, Joost P G JPG

Publication Date: 2018-12-01

Variant appearance in text: KCNH2: N996I

PubMed Link: 30169602

Variant Present in the following documents:

• Main text

View BVdb publication page

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Drug-Mediated Shortening of Action Potentials in LQTS2 Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes.

Stem Cells And Development

Duncan, Gary G; Firth, Karl K; George, Vinoj V; Hoang, Minh Duc MD; Staniforth, Andrew A; Smith, Godfrey G; Denning, Chris C

Publication Date: 2017-12-01

Variant appearance in text: HERG: N996I

PubMed Link: 28992755

Variant Present in the following documents:

• Main text
• scd.2017.0172.pdf

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Human iPSC-Derived Cardiomyocytes for Investigation of Disease Mechanisms and Therapeutic Strategies in Inherited Arrhythmia Syndromes: Strengths and Limitations.

Cardiovascular Drugs And Therapy

Casini, Simona S; Verkerk, Arie O AO; Remme, Carol Ann CA

Publication Date: 2017-06

Variant appearance in text: LQT2: N996I

PubMed Link: 28721524

Variant Present in the following documents:

• Main text

View BVdb publication page

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Human heart disease: lessons from human pluripotent stem cell-derived cardiomyocytes.

Cellular And Molecular Life Sciences : Cmls

Giacomelli, E E; Mummery, C L CL; Bellin, M M

Publication Date: 2017-10

Variant appearance in text: KCNH2: N996I

PubMed Link: 28573431

Variant Present in the following documents:

• Main text
• 18_2017_Article_2546.pdf

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Molecular pathogenesis of long QT syndrome type 2.

Journal Of Arrhythmia

Smith, Jennifer L JL; Anderson, Corey L CL; Burgess, Don E DE; Elayi, Claude S CS; January, Craig T CT; Delisle, Brian P BP

Publication Date: 2016-10

Variant appearance in text: LQT2: N996I

PubMed Link: 27761161

Variant Present in the following documents:

• Main text

View BVdb publication page

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Integrating cardiomyocytes from human pluripotent stem cells in safety pharmacology: has the time come?

British Journal Of Pharmacology

Sala, Luca L; Bellin, Milena M; Mummery, Christine L CL

Publication Date: 2017-11

Variant appearance in text: LQT2: N996I

PubMed Link: 27641943

Variant Present in the following documents:

• Main text
• BPH-174-3749.pdf

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Human Induced Pluripotent Stem Cells as a Platform for Personalized and Precision Cardiovascular Medicine.

Physiological Reviews

Matsa, Elena E; Ahrens, John H JH; Wu, Joseph C JC

Publication Date: 2016-07

Variant appearance in text: KCNH2: N996I

PubMed Link: 27335446

Variant Present in the following documents:

• Main text

View BVdb publication page

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Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes Afford New Opportunities in Inherited Cardiovascular Disease Modeling.

Cardiology Research And Practice

Bayzigitov, Daniel R DR; Medvedev, Sergey P SP; Dementyeva, Elena V EV; Bayramova, Sevda A SA; Pokushalov, Evgeny A EA; Karaskov, Alexander M AM; Zakian, Suren M SM

Publication Date: 2016

Variant appearance in text: KCNH2: N996I

PubMed Link: 27110425

Variant Present in the following documents:

• Main text
• CRP2016-3582380.pdf

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G-protein Coupled Receptor Signaling in Pluripotent Stem Cell-derived Cardiovascular Cells: Implications for Disease Modeling.

Frontiers In Cell And Developmental Biology

Dolatshad, Nazanin F NF; Hellen, Nicola N; Jabbour, Richard J RJ; Harding, Sian E SE; Földes, Gabor G

Publication Date: 2015

Variant appearance in text: KCNH2: N996I

PubMed Link: 26697426

Variant Present in the following documents:

• Main text

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: N996I

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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Induced Pluripotency and Gene Editing in Disease Modelling: Perspectives and Challenges.

International Journal Of Molecular Sciences

Seah, Yu Fen Samantha YF; El Farran, Chadi A CA; Warrier, Tushar T; Xu, Jian J; Loh, Yuin-Han YH

Publication Date: 2015-12-02

Variant appearance in text: KCNH2: N996I

PubMed Link: 26633382

Variant Present in the following documents:

• Main text
• ijms-16-26119.pdf

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Cardiovascular Disease Modeling Using Patient-Specific Induced Pluripotent Stem Cells.

International Journal Of Molecular Sciences

Tanaka, Atsushi A; Yuasa, Shinsuke S; Node, Koichi K; Fukuda, Keiichi K

Publication Date: 2015-08-12

Variant appearance in text: KCNH2: N996I

PubMed Link: 26274955

Variant Present in the following documents:

• ijms-16-18894-s001.xlsx, sheet 1

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: N996I

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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Cardiac disease modeling using induced pluripotent stem cell-derived human cardiomyocytes.

World Journal Of Stem Cells

Dell'Era, Patrizia P; Benzoni, Patrizia P; Crescini, Elisabetta E; Valle, Matteo M; Xia, Er E; Consiglio, Antonella A; Memo, Maurizio M

Publication Date: 2015-03-26

Variant appearance in text: LQT2: N996I

PubMed Link: 25815118

Variant Present in the following documents:

• Main text

View BVdb publication page

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Pluripotent stem cells as a platform for cardiac arrhythmia drug screening.

Current Treatment Options In Cardiovascular Medicine

Leyton-Mange, Jordan S JS; Milan, David J DJ

Publication Date: 2014-09

Variant appearance in text: KCNH2: N996I

PubMed Link: 25074263

Variant Present in the following documents:

• Main text

View BVdb publication page

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Isogenic human pluripotent stem cell pairs reveal the role of a KCNH2 mutation in long-QT syndrome.

The Embo Journal

Bellin, Milena M; Casini, Simona S; Davis, Richard P RP; D'Aniello, Cristina C; Haas, Jessica J; Ward-van Oostwaard, Dorien D; Tertoolen, Leon G J LG; Jung, Christian B CB; Elliott, David A DA; Welling, Andrea A; Laugwitz, Karl-Ludwig KL; Moretti, Alessandra A; Mummery, Christine L CL

Publication Date: 2013-12-11

Variant appearance in text: HERG: N996I

PubMed Link: 24213244

Variant Present in the following documents:

• Main text
• emboj2013240s1.pdf
• emboj2013240a.pdf
• emboj2013240s2.pdf

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