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: 526C>T; rs36210422

PubMed Link: 37324772

Variant Present in the following documents:

• Main text
• JOA3-39-430.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: 526C>T; Arg176Trp

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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Reevaluation of ambiguous genetic variants in sudden unexplained deaths of a young cohort.

International Journal Of Legal Medicine

Martinez-Barrios, Estefanía E; Sarquella-Brugada, Georgia G; Perez-Serra, Alexandra A; Fernandez-Falgueras, Anna A; Cesar, Sergi S; Alcalde, Mireia M; Coll, Mónica M; Puigmulé, Marta M; Iglesias, Anna A; Ferrer-Costa, Carles C; Del Olmo, Bernat B; Picó, Ferran F; Lopez, Laura L; Fiol, Victoria V; Cruzalegui, José J; Hernandez, Clara C; Arbelo, Elena E; Díez-Escuté, Nuria N; Cerralbo, Patricia P; Grassi, Simone S; Oliva, Antonio A; Toro, Rocío R; Brugada, Josep J; Brugada, Ramon R; Campuzano, Oscar O

Publication Date: 2023-01-25

Variant appearance in text: KCNH2: 526C>T; Arg176Trp; rs36210422

PubMed Link: 36693943

Variant Present in the following documents:

• 414_2023_2951_MOESM1_ESM.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: R176W

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: KCNH2: R176W

PubMed Link: 36269083

Variant Present in the following documents:

• Main text
• ddac261.pdf

View BVdb publication page

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Sex Differences and Utility of Treadmill Testing in Long-QT Syndrome.

Journal Of The American Heart Association

Yee, Lauren A LA; Han, Hui-Chen HC; Davies, Brianna B; Pearman, Charles M CM; Laksman, Zachary W M ZWM; Roberts, Jason D JD; Steinberg, Christian C; Tadros, Rafik R; Cadrin-Tourigny, Julia J; Simpson, Christopher S CS; Gardner, Martin M; MacIntyre, Ciorsti C; Arbour, Laura L; Leather, Richard R; Fournier, Anne A; Green, Martin S MS; Kimber, Shane S; Angaran, Paul P; Sanatani, Shubhayan S; Joza, Jacqueline J; Khan, Habib H; Healey, Jeffrey S JS; Atallah, Joseph J; Seifer, Colette C; Krahn, Andrew D AD

Publication Date: 2022-09-20

Variant appearance in text: KCNH2: Arg176Trp

PubMed Link: 36102233

Variant Present in the following documents:

• JAH3-11-e025108.pdf
• JAH3-11-e025108-s001.pdf

View BVdb publication page

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Endophenotype effect sizes support variant pathogenicity in monogenic disease susceptibility genes.

Nature Communications

Halford, Jennifer L JL; Morrill, Valerie N VN; Choi, Seung Hoan SH; Jurgens, Sean J SJ; Melloni, Giorgio G; Marston, Nicholas A NA; Weng, Lu-Chen LC; Nauffal, Victor V; Hall, Amelia W AW; Gunn, Sophia S; Austin-Tse, Christina A CA; Pirruccello, James P JP; Khurshid, Shaan S; Rehm, Heidi L HL; Benjamin, Emelia J EJ; Boerwinkle, Eric E; Brody, Jennifer A JA; Correa, Adolfo A; Fornwalt, Brandon K BK; Gupta, Namrata N; Haggerty, Christopher M CM; Harris, Stephanie S; Heckbert, Susan R SR; Hong, Charles C CC; Kooperberg, Charles C; Lin, Henry J HJ; Loos, Ruth J F RJF; Mitchell, Braxton D BD; Morrison, Alanna C AC; Post, Wendy W; Psaty, Bruce M BM; Redline, Susan S; Rice, Kenneth M KM; Rich, Stephen S SS; Rotter, Jerome I JI; Schnatz, Peter F PF; Soliman, Elsayed Z EZ; Sotoodehnia, Nona N; Wong, Eugene K EK; , ; Sabatine, Marc S MS; Ruff, Christian T CT; Lunetta, Kathryn L KL; Ellinor, Patrick T PT; Lubitz, Steven A SA

Publication Date: 2022-08-30

Variant appearance in text: KCNH2: 526C>T; Arg176Trp; rs36210422

PubMed Link: 36042188

Variant Present in the following documents:

• 41467_2022_32009_MOESM4_ESM.xlsx, sheet 1

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: Arg176Trp

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: R176W

PubMed Link: 35647048

Variant Present in the following documents:

• Main text
• fcvm-09-889519.pdf

View BVdb publication page

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Clonal evolution after treatment pressure in multiple myeloma: heterogenous genomic aberrations and transcriptomic convergence.

Leukemia

Misund, Kristine K; Hofste Op Bruinink, Davine D; Coward, Eivind E; Hoogenboezem, Remco M RM; Rustad, Even Holth EH; Sanders, Mathijs A MA; Rye, Morten M; Sponaas, Anne-Marit AM; van der Holt, Bronno B; Zweegman, Sonja S; Hovig, Eivind E; Meza-Zepeda, Leonardo A LA; Sundan, Anders A; Myklebost, Ola O; Sonneveld, Pieter P; Waage, Anders A

Publication Date: 2022-07

Variant appearance in text: KCNH2: R176W

PubMed Link: 35643867

Variant Present in the following documents:

• 41375_2022_1597_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Variable Clinical Appearance of the Kir2.1 Rare Variants in Russian Patients with Long QT Syndrome.

Genes

Zaklyazminskaya, Elena E; Polyak, Margarita M; Shestak, Anna A; Sadekova, Mariam M; Komoliatova, Vera V; Kiseleva, Irina I; Makarov, Leonid L; Podolyak, Dmitriy D; Glukhov, Grigory G; Zhang, Han H; Abramochkin, Denis D; Sokolova, Olga S OS

Publication Date: 2022-03-22

Variant appearance in text: KCNH2: Arg176Trp

PubMed Link: 35456365

Variant Present in the following documents:

• Main text
• genes-13-00559.pdf

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: KCNH2: R176W

PubMed Link: 34841674

Variant Present in the following documents:

• CTM2-11-e609-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: R176W

PubMed Link: 34002542

Variant Present in the following documents:

• Main text
• ACN3-8-1422.pdf

View BVdb publication page

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hERG-deficient human embryonic stem cell-derived cardiomyocytes for modelling QT prolongation.

Stem Cell Research & Therapy

Chang, Yun Y; Li, Ya-Nan YN; Bai, Rui R; Wu, Fujian F; Ma, Shuhong S; Saleem, Amina A; Zhang, Siyao S; Jiang, Youxu Y; Dong, Tao T; Guo, Tianwei T; Hang, Chengwen C; Lu, Wen-Jing WJ; Jiang, Hongfeng H; Lan, Feng F

Publication Date: 2021-05-07

Variant appearance in text: LQT2: R176W

PubMed Link: 33962658

Variant Present in the following documents:

• Main text

View BVdb publication page

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Identification of Possible Risk Variants of Familial Strabismus Using Exome Sequencing Analysis.

Genes

An, Joon-Yong JY; Jung, Jae Ho JH; Choi, Leejee L; Wieben, Eric D ED; Mohney, Brian G BG

Publication Date: 2021-01-10

Variant appearance in text: KCNH2: 526C>T; R176W

PubMed Link: 33435129

Variant Present in the following documents:

• Main text

View BVdb publication page

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The Efficacy of Beta-Blockers in Patients With Long QT Syndrome 1-3 According to Individuals' Gender, Age, and QTc Intervals: A Network Meta-analysis.

Frontiers In Pharmacology

Han, Lu L; Liu, Fuxiang F; Li, Qing Q; Qing, Tao T; Zhai, Zhenyu Z; Xia, Zirong Z; Li, Juxiang J

Publication Date: 2020

Variant appearance in text: LQT2: R176W

PubMed Link: 33381033

Variant Present in the following documents:

• Main text
• fphar-11-579525.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: KCNH2: 526C>T; Arg176Trp

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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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: Arg176Trp

PubMed Link: 33013630

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: 526C>T; Arg176Trp

PubMed Link: 32893267

Variant Present in the following documents:

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

View BVdb publication page

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New Insights on Genetic Diagnostics in Cardiomyopathy and Arrhythmia Patients Gained by Stepwise Exome Data Analysis.

Journal Of Clinical Medicine

Kolokotronis, Konstantinos K; Pluta, Natalie N; Klopocki, Eva E; Kunstmann, Erdmute E; Messroghli, Daniel D; Maack, Christoph C; Tejman-Yarden, Shai S; Arad, Michael M; Rost, Simone S; Gerull, Brenda B

Publication Date: 2020-07-09

Variant appearance in text: KCNH2: 526C>T; Arg176Trp

PubMed Link: 32659924

Variant Present in the following documents:

• Main text
• jcm-09-02168.pdf

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: 526C>T

PubMed Link: 32383558

Variant Present in the following documents:

• Main text
• MGG3-8-e1300.pdf
• MGG3-8-e1300-s001.xlsx, sheet 1

View BVdb publication page

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Applications for Induced Pluripotent Stem Cells in Disease Modelling and Drug Development for Heart Diseases.

European Cardiology

Nakao, Shu S; Ihara, Dai D; Hasegawa, Koji K; Kawamura, Teruhisa T

Publication Date: 2020-02

Variant appearance in text: KCNH2: R176W

PubMed Link: 32180835

Variant Present in the following documents:

• Main text

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: R176W

PubMed Link: 31963859

Variant Present in the following documents:

• Main text
• ijms-21-00657.pdf

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: R176W

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: 526C>T; R176W

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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Sudden Cardiac Death (SCD) - risk stratification and prediction with molecular biomarkers.

Journal Of Biomedical Science

Osman, Junaida J; Tan, Shing Cheng SC; Lee, Pey Yee PY; Low, Teck Yew TY; Jamal, Rahman R

Publication Date: 2019-05-22

Variant appearance in text: KCNH2: Arg176Trp; rs36210422

PubMed Link: 31118017

Variant Present in the following documents:

• Main text
• 12929_2019_Article_535.pdf

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: KCNH2: 526C>T; Arg176Trp; rs36210422

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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Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes as Models for Cardiac Channelopathies: A Primer for Non-Electrophysiologists.

Circulation Research

Garg, Priyanka P; Garg, Vivek V; Shrestha, Rajani R; Sanguinetti, Michael C MC; Kamp, Timothy J TJ; Wu, Joseph C JC

Publication Date: 2018-07-06

Variant appearance in text: KCNH2: R176W

PubMed Link: 29976690

Variant Present in the following documents:

• Main text

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: R176W

PubMed Link: 29957233

Variant Present in the following documents:

• Main text

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: LQT2: Arg176Trp

PubMed Link: 29661707

Variant Present in the following documents:

• Main text

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: R176W

PubMed Link: 29622001

Variant Present in the following documents:

• Main text
• 12881_2018_Article_574.pdf

View BVdb publication page

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Genetic Basis of Sudden Unexpected Death in Epilepsy.

Frontiers In Neurology

Bagnall, Richard D RD; Crompton, Douglas E DE; Semsarian, Christopher C

Publication Date: 2017

Variant appearance in text: KCNH2: Arg176Trp

PubMed Link: 28775708

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: KCNH2: R176W

PubMed Link: 28721524

Variant Present in the following documents:

• Main text

View BVdb publication page

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The Promise and Challenge of Induced Pluripotent Stem Cells for Cardiovascular Applications.

Jacc. Basic To Translational Science

Youssef, Amr A AA; Ross, Elsie Gyang EG; Bolli, Roberto R; Pepine, Carl J CJ; Leeper, Nicholas J NJ; Yang, Phillip C PC

Publication Date: 2016-10

Variant appearance in text: LQT2: R176W

PubMed Link: 28580434

Variant Present in the following documents:

• Main text
• main.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: R176W

PubMed Link: 28573431

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: 526C>T; Arg176Trp

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Genetic investigation of 100 heart genes in sudden unexplained death victims in a forensic setting.

European Journal Of Human Genetics : Ejhg

Christiansen, Sofie Lindgren SL; Hertz, Christin Løth CL; Ferrero-Miliani, Laura L; Dahl, Morten M; Weeke, Peter Ejvin PE; LuCamp, ; Ottesen, Gyda Lolk GL; Frank-Hansen, Rune R; Bundgaard, Henning H; Morling, Niels N

Publication Date: 2016-12

Variant appearance in text: KCNH2: 526C>T; R176W; rs36210422

PubMed Link: 27650965

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: R176W

PubMed Link: 27110425

Variant Present in the following documents:

• Main text
• CRP2016-3582380.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: LQT2: Arg176Trp

PubMed Link: 27064559

Variant Present in the following documents:

• Main text

View BVdb publication page

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Effects of cardioactive drugs on human induced pluripotent stem cell derived long QT syndrome cardiomyocytes.

Springerplus

Kuusela, Jukka J; Kujala, Ville J VJ; Kiviaho, Anna A; Ojala, Marisa M; Swan, Heikki H; Kontula, Kimmo K; Aalto-Setälä, Katriina K

Publication Date: 2016

Variant appearance in text: LQT2: R176W

PubMed Link: 27026928

Variant Present in the following documents:

• Main text
• 40064_2016_Article_1889.pdf

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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: R176W

PubMed Link: 27009425

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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: Arg176Trp

PubMed Link: 26749013

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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: R176W; rs36210422

PubMed Link: 26659599

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• pone.0144692.s002.xlsx, sheet 1

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RNA interference-based therapeutics for inherited long QT syndrome.

Experimental And Therapeutic Medicine

Li, Guoliang G; Ma, Shuting S; Sun, Chaofeng C

Publication Date: 2015-08

Variant appearance in text: KCNH2: R176W

PubMed Link: 26622327

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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: R176W

PubMed Link: 26274955

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Clinical Potentials of Cardiomyocytes Derived from Patient-Specific Induced Pluripotent Stem Cells.

Journal Of Clinical Medicine

Ng, Kwong-Man KM; Law, Cheuk-Yiu CY; Tse, Hung-Fat HF

Publication Date: 2014-10-15

Variant appearance in text: KCNH2: R176W

PubMed Link: 26237594

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• jcm-03-01105.pdf

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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: R176W

PubMed Link: 26206375

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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: KCNH2: R176W

PubMed Link: 25815118

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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: R176W

PubMed Link: 25074263

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Human pluripotent stem cell-derived cardiomyocytes as research and therapeutic tools.

Biomed Research International

Acimovic, Ivana I; Vilotic, Aleksandra A; Pesl, Martin M; Lacampagne, Alain A; Dvorak, Petr P; Rotrekl, Vladimir V; Meli, Albano C AC

Publication Date: 2014

Variant appearance in text: KCNH2: R176W

PubMed Link: 24800237

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