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: 1682C>T; rs121912504

PubMed Link: 37324772

Variant Present in the following documents:

• Main text
• JOA3-39-430.pdf

View BVdb publication page

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Gene- and variant-specific efficacy of serum/glucocorticoid-regulated kinase 1 inhibition in long QT syndrome types 1 and 2.

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

Giannetti, Federica F; Barbieri, Miriam M; Shiti, Assad A; Casini, Simona S; Sager, Philip T PT; Das, Saumya S; Pradhananga, Sabindra S; Srinivasan, Dinesh D; Nimani, Saranda S; Alerni, Nicolò N; Louradour, Julien J; Mura, Manuela M; Gnecchi, Massimiliano M; Brink, Paul P; Zehender, Manfred M; Koren, Gideon G; Zaza, Antonio A; Crotti, Lia L; Wilde, Arthur A M AAM; Schwartz, Peter J PJ; Remme, Carol Ann CA; Gepstein, Lior L; Sala, Luca L; Odening, Katja E KE

Publication Date: 2023-04-26

Variant appearance in text: LQT2: A561V

PubMed Link: 37099628

Variant Present in the following documents:

• Main text
• euad094.pdf

View BVdb publication page

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: KCNH2: 1682C>T; Ala561Val

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Modeling long QT syndrome type 2 on-a-chip via in-depth assessment of isogenic gene-edited 3D cardiac tissues.

Science Advances

Veldhuizen, Jaimeson J; Mann, Helen F HF; Karamanova, Nina N; Van Horn, Wade D WD; Migrino, Raymond Q RQ; Brafman, David D; Nikkhah, Mehdi M

Publication Date: 2022-12-16

Variant appearance in text: KCNH2: A561V

PubMed Link: 36525500

Variant Present in the following documents:

• Main text
• sciadv.abq6720.pdf

View BVdb publication page

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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: A561V

PubMed Link: 36277779

Variant Present in the following documents:

• Data_Sheet_1.pdf

View BVdb publication page

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Reclassification of a likely pathogenic Dutch founder variant in KCNH2; implications of reduced penetrance.

Human Molecular Genetics

Copier, Jaël S JS; Bootsma, Marianne M; Ng, Chai A CA; Wilde, Arthur A M AAM; Bertels, Robin A RA; Bikker, Hennie H; Christiaans, Imke I; van der Crabben, Saskia N SN; Hol, Janna A JA; Koopmann, Tamara T TT; Knijnenburg, Jeroen J; Lommerse, Aafke A J AAJ; van der Smagt, Jasper J JJ; Bezzina, Connie R CR; Vandenberg, Jamie I JI; Verkerk, Arie O AO; Barge-Schaapveld, Daniela Q C M DQCM; Lodder, Elisabeth M EM

Publication Date: 2022-10-21

Variant appearance in text: LQT2: A561V

PubMed Link: 36269083

Variant Present in the following documents:

• ddac261.pdf

View BVdb publication page

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Long QT syndrome and left ventricular non-compaction in a family with KCNH2 mutation: A case report.

Frontiers In Pediatrics

Caiffa, Thomas T; Tessitore, Antimo A; Leoni, Loira L; Reffo, Elena E; Chicco, Daniela D; D'Agata Mottolese, Biancamaria B; Rubinato, Elisa E; Girotto, Giorgia G; Lenarduzzi, Stefania S; Barbi, Egidio E; Bobbo, Marco M; Di Salvo, Giovanni G

Publication Date: 2022

Variant appearance in text: KCNH2: A561V

PubMed Link: 35989994

Variant Present in the following documents:

• Main text
• fped-10-970240.pdf

View BVdb publication page

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Genotype-Specific ECG-Based Risk Stratification Approaches in Patients With Long-QT Syndrome.

Frontiers In Cardiovascular Medicine

Rieder, Marina M; Kreifels, Paul P; Stuplich, Judith J; Ziupa, David D; Servatius, Helge H; Nicolai, Luisa L; Castiglione, Alessandro A; Zweier, Christiane C; Asatryan, Babken B; Odening, Katja E KE

Publication Date: 2022

Variant appearance in text: KCNH2: Ala561Val

PubMed Link: 35911527

Variant Present in the following documents:

• Main text
• fcvm-09-916036.pdf

View BVdb publication page

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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: LQT2: A561V

PubMed Link: 35647048

Variant Present in the following documents:

• Main text
• fcvm-09-889519.pdf

View BVdb publication page

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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: A561V

PubMed Link: 35282377

Variant Present in the following documents:

• Main text
• fcvm-09-801927.pdf

View BVdb publication page

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Identification of Immune-Related Gene Signatures in Lung Adenocarcinoma and Lung Squamous Cell Carcinoma.

Frontiers In Immunology

Li, Na N; Wang, Jiahong J; Zhan, Xianquan X

Publication Date: 2021

Variant appearance in text: KCNH2: 1682C>T; A561V

PubMed Link: 34887858

Variant Present in the following documents:

• Table_3.xlsx, sheet 1

View BVdb publication page

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A standardised hERG phenotyping pipeline to evaluate KCNH2 genetic variant pathogenicity.

Clinical And Translational Medicine

Oliveira-Mendes, Barbara B; Feliciangeli, Sylvain S; Ménard, Mélissa M; Chatelain, Frank F; Alameh, Malak M; Montnach, Jérôme J; Nicolas, Sébastien S; Ollivier, Béatrice B; Barc, Julien J; Baró, Isabelle I; Schott, Jean-Jacques JJ; Probst, Vincent V; Kyndt, Florence F; Denjoy, Isabelle I; Lesage, Florian F; Loussouarn, Gildas G; De Waard, Michel M

Publication Date: 2021-11

Variant appearance in text: LQT2: 1682C>T

PubMed Link: 34841674

Variant Present in the following documents:

• Main text
• CTM2-11-e609-s001.pdf
• CTM2-11-e609.pdf

View BVdb publication page

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Modified N-linked glycosylation status predicts trafficking defective human Piezo1 channel mutations.

Communications Biology

Li, Jinyuan Vero JV; Ng, Chai-Ann CA; Cheng, Delfine D; Zhou, Zijing Z; Yao, Mingxi M; Guo, Yang Y; Yu, Ze-Yan ZY; Ramaswamy, Yogambha Y; Ju, Lining Arnold LA; Kuchel, Philip W PW; Feneley, Michael P MP; Fatkin, Diane D; Cox, Charles D CD

Publication Date: 2021-09-06

Variant appearance in text: Kv11.1: A561V

PubMed Link: 34489534

Variant Present in the following documents:

• 42003_2021_Article_2528.pdf

View BVdb publication page

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Role and mechanism of chaperones calreticulin and ERP57 in restoring trafficking to mutant HERG‑A561V protein.

International Journal Of Molecular Medicine

Wu, Yujia Y; Huang, Xiaoyan X; Zheng, Zequn Z; Yang, Xi X; Ba, Yanna Y; Lian, Jiangfang J

Publication Date: 2021-08

Variant appearance in text: HERG: A561V

PubMed Link: 34212985

Variant Present in the following documents:

• Main text
• ijmm-48-02-04992.pdf

View BVdb publication page

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Patient-specific induced pluripotent stem cells as "disease-in-a-dish" models for inherited cardiomyopathies and channelopathies - 15 years of research.

World Journal Of Stem Cells

Micheu, Miruna Mihaela MM; Rosca, Ana-Maria AM

Publication Date: 2021-04-26

Variant appearance in text: KCNH2: A561V

PubMed Link: 33959219

Variant Present in the following documents:

• Main text

View BVdb publication page

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L51P, a novel mutation in the PAS domain of hERG channel, confers long QT syndrome by impairing channel activation.

American Journal Of Translational Research

Wang, Mi M; Gao, Min M; Fang, Senbiao S; Zheng, Ruoqian R; Peng, Daoquan D; Luo, Qin Q; Yu, Bilian B

Publication Date: 2020

Variant appearance in text: LQT2: A561V

PubMed Link: 33437379

Variant Present in the following documents:

• Main text

View BVdb publication page

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Successful trans-maternal nadolol pharmacotherapy in a fetus presenting with long QT syndrome type 2 complicated by torsade de pointes.

Journal Of Cardiology Cases

Shima, Yuriko Y; Horigome, Hitoshi H; Nozaki, Yoshihiro Y; Lin, Lisheng L; Ishiodori, Takumi T; Yano, Yusuke Y; Takahashi, Miho M; Murakami, Takashi T; Yamasaki, Hiro H; Takada, Hidetoshi H

Publication Date: 2020-12

Variant appearance in text: KCNH2: A561V

PubMed Link: 33304417

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: 1682C>T; Ala561Val

PubMed Link: 32893267

Variant Present in the following documents:

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

View BVdb publication page

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Spectrum of Cardiac Arrhythmias in Isolated Ventricular Non-Compaction.

The Journal Of Innovations In Cardiac Rhythm Management

Tumolo, Alexis Z AZ; Nguyen, Duy T DT

Publication Date: 2017-07

Variant appearance in text: KCNH2: A561V

PubMed Link: 32494459

Variant Present in the following documents:

• Main text
• icrm-08-2774.pdf

View BVdb publication page

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Structures Illuminate Cardiac Ion Channel Functions in Health and in Long QT Syndrome.

Frontiers In Pharmacology

Brewer, Kathryn R KR; Kuenze, Georg G; Vanoye, Carlos G CG; George, Alfred L AL; Meiler, Jens J; Sanders, Charles R CR

Publication Date: 2020

Variant appearance in text: LQT2: A561V

PubMed Link: 32431610

Variant Present in the following documents:

• Main text

View BVdb publication page

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Reclassification of genetic variants in children with long QT syndrome.

Molecular Genetics & Genomic Medicine

Westphal, Dominik S DS; Burkard, Tobias T; Moscu-Gregor, Alexander A; Gebauer, Roman R; Hessling, Gabriele G; Wolf, Cordula M CM

Publication Date: 2020-09

Variant appearance in text: KCNH2: 1682C>T; Ala561Val

PubMed Link: 32383558

Variant Present in the following documents:

• MGG3-8-e1300-s001.xlsx, sheet 1

View BVdb publication page

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The mutation L69P in the PAS domain of the hERG potassium channel results in LQTS by trafficking deficiency.

Channels (Austin, Tex.)

Jenewein, Tina T; Kanner, Scott A SA; Bauer, Daniel D; Hertel, Brigitte B; Colecraft, Henry M HM; Moroni, Anna A; Thiel, Gerhard G; Kauferstein, Silke S

Publication Date: 2020-12

Variant appearance in text: LQT2: A561V

PubMed Link: 32253972

Variant Present in the following documents:

• kchl-14-01-1751522.pdf

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: LQT2: A561V

PubMed Link: 31983240

Variant Present in the following documents:

• cir-141-418-s001.pdf

View BVdb publication page

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The Emergence of Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes (hiPSC-CMs) as a Platform to Model Arrhythmogenic Diseases.

International Journal Of Molecular Sciences

Pourrier, Marc M; Fedida, David D

Publication Date: 2020-01-19

Variant appearance in text: KCNH2: A561V

PubMed Link: 31963859

Variant Present in the following documents:

• Main text

View BVdb publication page

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R534C mutation in hERG causes a trafficking defect in iPSC-derived cardiomyocytes from patients with type 2 long QT syndrome.

Scientific Reports

Mesquita, Fernanda C P FCP; Arantes, Paulo C PC; Kasai-Brunswick, Tais H TH; Araujo, Dayana S DS; Gubert, Fernanda F; Monnerat, Gustavo G; Silva Dos Santos, Danúbia D; Neiman, Gabriel G; Leitão, Isabela C IC; Barbosa, Raiana A Q RAQ; Coutinho, Jorge L JL; Vaz, Isadora M IM; Dos Santos, Marcus N MN; Borgonovo, Tamara T; Cruz, Fernando E S FES; Miriuka, Santiago S; Medei, Emiliano H EH; Campos de Carvalho, Antonio C AC; Carvalho, Adriana B AB

Publication Date: 2019-12-16

Variant appearance in text: KCNH2: A561V

PubMed Link: 31844156

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: A561V

PubMed Link: 31664757

Variant Present in the following documents:

• STEM-38-174-s001.pdf

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: 1682C>T; A561V

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: A561V

PubMed Link: 31440766

Variant Present in the following documents:

• Main text
• 246_2019_Article_2151.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: KCNH2: 1682C>T; Ala561Val

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

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Long QT Syndrome and Sinus Bradycardia-A Mini Review.

Frontiers In Cardiovascular Medicine

Wilders, Ronald R; Verkerk, Arie O AO

Publication Date: 2018

Variant appearance in text: KCNH2: A561V

PubMed Link: 30123799

Variant Present in the following documents:

• Main text
• fcvm-05-00106.pdf

View BVdb publication page

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Genome Editing of Induced Pluripotent Stem Cells to Decipher Cardiac Channelopathy Variant.

Journal Of The American College Of Cardiology

Garg, Priyanka P; Oikonomopoulos, Angelos A; Chen, Haodong H; Li, Yingxin Y; Lam, Chi Keung CK; Sallam, Karim K; Perez, Marco M; Lux, Robert L RL; Sanguinetti, Michael C MC; Wu, Joseph C JC

Publication Date: 2018-07-03

Variant appearance in text: LQT2: A561V

PubMed Link: 29957233

Variant Present in the following documents:

• Main text

View BVdb publication page

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The role and mechanism of chaperones Calnexin/Calreticulin in which ALLN selectively rescues the trafficking defective of HERG-A561V mutation.

Bioscience Reports

Wang, Ying Y; Shen, Tingting T; Fang, Peiliang P; Zhou, Junbo J; Lou, Kenan K; Cen, Zemin Z; Qian, Hai H; Zhou, Jianqing J; Liu, Ningsheng N; Lian, Jiangfang J

Publication Date: 2018-10-31

Variant appearance in text: HERG: A561V

PubMed Link: 29752336

Variant Present in the following documents:

• Main text
• bsr-38-bsr20171269.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: KCNH2: 1682C>T; Ala561Val

PubMed Link: 29672598

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genomic Features of Response to Combination Immunotherapy in Patients with Advanced Non-Small-Cell Lung Cancer.

Cancer Cell

Hellmann, Matthew D MD; Nathanson, Tavi T; Rizvi, Hira H; Creelan, Benjamin C BC; Sanchez-Vega, Francisco F; Ahuja, Arun A; Ni, Ai A; Novik, Jacki B JB; Mangarin, Levi M B LMB; Abu-Akeel, Mohsen M; Liu, Cailian C; Sauter, Jennifer L JL; Rekhtman, Natasha N; Chang, Eliza E; Callahan, Margaret K MK; Chaft, Jamie E JE; Voss, Martin H MH; Tenet, Megan M; Li, Xue-Mei XM; Covello, Kelly K; Renninger, Andrea A; Vitazka, Patrik P; Geese, William J WJ; Borghaei, Hossein H; Rudin, Charles M CM; Antonia, Scott J SJ; Swanton, Charles C; Hammerbacher, Jeff J; Merghoub, Taha T; McGranahan, Nicholas N; Snyder, Alexandra A; Wolchok, Jedd D JD

Publication Date: 2018-05-14

Variant appearance in text: KCNH2: A561V

PubMed Link: 29657128

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

View BVdb publication page

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Clinical and molecular genetic risk determinants in adult long QT syndrome type 1 and 2 patients : Koponen et al. Follow-up of adult LQTS patients.

Bmc Medical Genetics

Koponen, Mikael M; Havulinna, Aki S AS; Marjamaa, Annukka A; Tuiskula, Annukka M AM; Salomaa, Veikko V; Laitinen-Forsblom, Päivi J PJ; Piippo, Kirsi K; Toivonen, Lauri L; Kontula, Kimmo K; Viitasalo, Matti M; Swan, Heikki H

Publication Date: 2018-04-05

Variant appearance in text: KCNH2: A561V

PubMed Link: 29622001

Variant Present in the following documents:

• Main text
• 12881_2018_Article_574.pdf

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: A561V

PubMed Link: 28573431

Variant Present in the following documents:

• Main text
• 18_2017_Article_2546.pdf

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: 1682C>T; Ala561Val

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: A561V

PubMed Link: 28316956

Variant Present in the following documents:

• Main text
• 40709_2017_Article_63.pdf

View BVdb publication page

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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: A561V

PubMed Link: 27761161

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Connexin 43 and CaV1.2 Ion Channel Trafficking in Healthy and Diseased Myocardium.

Circulation. Arrhythmia And Electrophysiology

Basheer, Wassim A WA; Shaw, Robin M RM

Publication Date: 2016-06

Variant appearance in text: LQT2: A561V

PubMed Link: 27266274

Variant Present in the following documents:

• Main text

View BVdb publication page

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Cardiac Delayed Rectifier Potassium Channels in Health and Disease.

Cardiac Electrophysiology Clinics

Chen, Lei L; Sampson, Kevin J KJ; Kass, Robert S RS

Publication Date: 2016-06

Variant appearance in text: LQT2: A561V

PubMed Link: 27261823

Variant Present in the following documents:

• Main text

View BVdb publication page

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Induced pluripotent stem cells: at the heart of cardiovascular precision medicine.

Nature Reviews. Cardiology

Chen, Ian Y IY; Matsa, Elena E; Wu, Joseph C JC

Publication Date: 2016-06

Variant appearance in text: KCNH2: A561V

PubMed Link: 27009425

Variant Present in the following documents:

• Main text

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Drug-induced Inhibition and Trafficking Disruption of ion Channels: Pathogenesis of QT Abnormalities and Drug-induced Fatal Arrhythmias.

Current Cardiology Reviews

Cubeddu, Luigi X LX

Publication Date: 2016

Variant appearance in text: LQT2: A561V

PubMed Link: 26926294

Variant Present in the following documents:

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Association of the hERG mutation with long-QT syndrome type 2, syncope and epilepsy.

Molecular Medicine Reports

Li, Guoliang G; Shi, Rui R; Wu, Jine J; Han, Wenqi W; Zhang, Aifeng A; Cheng, Gong G; Xue, Xiaolin X; Sun, Chaofeng C

Publication Date: 2016-03

Variant appearance in text: LQT2: A561V

PubMed Link: 26847485

Variant Present in the following documents:

• Main text
• mmr-13-03-2467.pdf

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