Publications:

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Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.

Human Genetics

Tollefson, Mallory R MR; Gogal, Rose A RA; Weaver, A Monique AM; Schaefer, Amanda M AM; Marini, Robert J RJ; Azaiez, Hela H; Kolbe, Diana L DL; Wang, Donghong D; Weaver, Amy E AE; Casavant, Thomas L TL; Braun, Terry A TA; Smith, Richard J H RJH; Schnieders, Michael J MJ

Publication Date: 2023-04-22

Variant appearance in text: KCNQ1: 569G>A; Arg190Gln

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Shared and distinct ultra-rare genetic risk for diverse epilepsies: A whole-exome sequencing study of 54,423 individuals across multiple genetic ancestries.

Medrxiv : The Preprint Server For Health Sciences

, ; Chen, Siwei S; Neale, Benjamin M BM; Berkovic, Samuel F SF

Publication Date: 2023-02-24

Variant appearance in text: KCNQ1: 569G>A; Arg190Gln

PubMed Link: 36865150

Variant Present in the following documents:

• media-2.xlsx, sheet 9

View BVdb publication page

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Mitochondrial Cardiomyopathy: Molecular Epidemiology, Diagnosis, Models, and Therapeutic Management.

Cells

Yang, Jinjuan J; Chen, Shaoxiang S; Duan, Fuyu F; Wang, Xiuxiu X; Zhang, Xiaoxian X; Lian, Boonxuan B; Kou, Meng M; Chiang, Zhixin Z; Li, Ziyue Z; Lian, Qizhou Q

Publication Date: 2022-11-06

Variant appearance in text: KCNQ1: R190Q

PubMed Link: 36359908

Variant Present in the following documents:

• cells-11-03511.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: LQT1: R190Q

PubMed Link: 36277779

Variant Present in the following documents:

• Data_Sheet_1.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: KCNQ1: Arg190Gln

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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Assessment of the Diagnostic Yield of Combined Cardiomyopathy and Arrhythmia Genetic Testing.

Jama Cardiology

Dellefave-Castillo, Lisa M LM; Cirino, Allison L AL; Callis, Thomas E TE; Esplin, Edward D ED; Garcia, John J; Hatchell, Kathryn E KE; Johnson, Britt B; Morales, Ana A; Regalado, Ellen E; Rojahn, Susan S; Vatta, Matteo M; Nussbaum, Robert L RL; McNally, Elizabeth M EM

Publication Date: 2022-09-01

Variant appearance in text: KCNQ1: 569G>A; Arg190Gln

PubMed Link: 35947370

Variant Present in the following documents:

• jamacardiol-e222455-s002.xlsx, sheet 1

View BVdb publication page

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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: LQT1: R190Q

PubMed Link: 35936037

Variant Present in the following documents:

• Main text
• JOA3-38-554.pdf

View BVdb publication page

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KCNQ1-deficient and KCNQ1-mutant human embryonic stem cell-derived cardiomyocytes for modeling QT prolongation.

Stem Cell Research & Therapy

Song, Yuanxiu Y; Guo, Tianwei T; Jiang, Youxu Y; Zhu, Min M; Wang, Hongyue H; Lu, Wenjing W; Jiang, Mengqi M; Qi, Man M; Lan, Feng F; Cui, Ming M

Publication Date: 2022-06-28

Variant appearance in text: KCNQ1: R190Q

PubMed Link: 35765105

Variant Present in the following documents:

• Main text
• 13287_2022_Article_2964.pdf
• 13287_2022_2964_MOESM3_ESM.pdf

View BVdb publication page

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Base Editing of Human Pluripotent Stem Cells for Modeling Long QT Syndrome.

Stem Cell Reviews And Reports

Wu, Fujian F; Guo, Tianwei T; Sun, Lixiang L; Li, Furong F; Yang, Xiaofei X

Publication Date: 2022-04

Variant appearance in text: KCNQ1: R190Q

PubMed Link: 34997921

Variant Present in the following documents:

• Main text

View BVdb publication page

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Membrane pools of phosphatidylinositol-4-phosphate regulate KCNQ1/KCNE1 membrane expression.

Communications Biology

Braun, Chen C; Parks, Xiaorong Xu XX; Qudsi, Haani H; Lopes, Coeli M B CMB

Publication Date: 2021-12-14

Variant appearance in text: KCNQ1: R190Q

PubMed Link: 34907346

Variant Present in the following documents:

• Main text
• 42003_2021_Article_2909.pdf

View BVdb publication page

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Membrane pools of phosphatidylinositol-4-phosphate regulate KCNQ1/KCNE1 membrane expression.

Communications Biology

Braun, Chen C; Parks, Xiaorong Xu XX; Qudsi, Haani H; Lopes, Coeli M B CMB

Publication Date: 2021-12-14

Variant appearance in text: KCNQ1: R190Q

PubMed Link: 34907346

Variant Present in the following documents:

• Main text
• 42003_2021_Article_2909.pdf

View BVdb publication page

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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: KCNQ1: R190Q

PubMed Link: 34709746

Variant Present in the following documents:

• Main text

View BVdb publication page

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Mutation location and IKs regulation in the arrhythmic risk of long QT syndrome type 1: the importance of the KCNQ1 S6 region.

European Heart Journal

Schwartz, Peter J PJ; Moreno, Cristina C; Kotta, Maria-Christina MC; Pedrazzini, Matteo M; Crotti, Lia L; Dagradi, Federica F; Castelletti, Silvia S; Haugaa, Kristina H KH; Denjoy, Isabelle I; Shkolnikova, Maria A MA; Brink, Paul A PA; Heradien, Marshall J MJ; Seyen, Sandrine R M SRM; Spätjens, Roel L H M G RLHMG; Spazzolini, Carla C; Volders, Paul G A PGA

Publication Date: 2021-12-07

Variant appearance in text: KCNQ1: R190Q

PubMed Link: 34505893

Variant Present in the following documents:

• Main text

View BVdb publication page

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The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine

Xiao, Qingyang Q; Lauschke, Volker M VM

Publication Date: 2021-06-02

Variant appearance in text: rs120074178

PubMed Link: 34078906

Variant Present in the following documents:

• 41525_2021_203_MOESM2_ESM.xlsx, sheet 1

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: KCNQ1: R190Q

PubMed Link: 33959219

Variant Present in the following documents:

• Main text

View BVdb publication page

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KCNQ1 G219E and TRPM4 T160M polymorphisms are involved in the pathogenesis of long QT syndrome: A case report.

Medicine

Zhao, Yang Y; Feng, Min M; Shang, Lu-Xiang LX; Sun, Hua-Xin HX; Zhou, Xian-Hui XH; Lu, Yan-Mei YM; Zhang, Ling L; Xing, Qiang Q; Li, Yao-Dong YD; Tang, Bao-Peng BP

Publication Date: 2021-01-15

Variant appearance in text: KCNQ1: R190Q

PubMed Link: 33466149

Variant Present in the following documents:

• Main text
• medi-100-e24032.pdf

View BVdb publication page

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Base Editing Mediated Generation of Point Mutations Into Human Pluripotent Stem Cells for Modeling Disease.

Frontiers In Cell And Developmental Biology

Qi, Tao T; Wu, Fujian F; Xie, Yuquan Y; Gao, Siqi S; Li, Miaomiao M; Pu, Jun J; Li, Dali D; Lan, Feng F; Wang, Yongming Y

Publication Date: 2020

Variant appearance in text: KCNQ1: R190Q

PubMed Link: 33102492

Variant Present in the following documents:

• Main text
• fcell-08-590581.pdf

View BVdb publication page

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Drug Development and the Use of Induced Pluripotent Stem Cell-Derived Cardiomyocytes for Disease Modeling and Drug Toxicity Screening.

International Journal Of Molecular Sciences

Ovics, Paz P; Regev, Danielle D; Baskin, Polina P; Davidor, Mor M; Shemer, Yuval Y; Neeman, Shunit S; Ben-Haim, Yael Y; Binah, Ofer O

Publication Date: 2020-10-03

Variant appearance in text: KCNQ1: R190Q

PubMed Link: 33023024

Variant Present in the following documents:

• Main text
• ijms-21-07320.pdf

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: KCNQ1: 569G>A

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

View BVdb publication page

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Reduced penetrance of pathogenic ACMG variants in a deeply phenotyped cohort study and evaluation of ClinVar classification over time.

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

van Rooij, Jeroen J; Arp, Pascal P; Broer, Linda L; Verlouw, Joost J; van Rooij, Frank F; Kraaij, Robert R; Uitterlinden, André A; Verkerk, Annemieke J M H AJMH

Publication Date: 2020-11

Variant appearance in text: KCNQ1: 569G>A; Arg190Gln; rs120074178

PubMed Link: 32665702

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: LQT1: R190Q

PubMed Link: 32575374

Variant Present in the following documents:

• Main text
• ijms-21-04354.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: KCNQ1: 569G>A; Arg190Gln

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 ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research

Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,

Publication Date: 2020-09

Variant appearance in text: KCNQ1: 569G>A; Arg190Gln; rs120074178

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

View BVdb publication page

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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: KCNQ1: R190Q

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: KCNQ1: R190Q

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: LQT1: R190Q

PubMed Link: 31664757

Variant Present in the following documents:

• Main text
• STEM-38-174.pdf
• STEM-38-174-s001.pdf

View BVdb publication page

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Upgraded molecular models of the human KCNQ1 potassium channel.

Plos One

Kuenze, Georg G; Duran, Amanda M AM; Woods, Hope H; Brewer, Kathryn R KR; McDonald, Eli Fritz EF; Vanoye, Carlos G CG; George, Alfred L AL; Sanders, Charles R CR; Meiler, Jens J

Publication Date: 2019

Variant appearance in text: KCNQ1: R190Q

PubMed Link: 31518351

Variant Present in the following documents:

• Main text
• pone.0220415.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: KCNQ1: 569G>A; R190Q

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: rs120074178

PubMed Link: 31118017

Variant Present in the following documents:

• Main text

View BVdb publication page

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Three-dimensional microengineered models of human cardiac diseases.

Journal Of Biological Engineering

Veldhuizen, Jaimeson J; Migrino, Raymond Q RQ; Nikkhah, Mehdi M

Publication Date: 2019

Variant appearance in text: KCNQ1: R190Q

PubMed Link: 30988697

Variant Present in the following documents:

• Main text
• 13036_2019_Article_155.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: KCNQ1: 569G>A

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.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: KCNQ1: R190Q

PubMed Link: 30428582

Variant Present in the following documents:

• Main text
• ijms-19-03583.pdf

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: KCNQ1: R190Q

PubMed Link: 29976690

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genome Editing and Induced Pluripotent Stem Cell Technologies for Personalized Study of Cardiovascular Diseases.

Current Cardiology Reports

Chun, Young Wook YW; Durbin, Matthew D MD; Hong, Charles C CC

Publication Date: 2018-04-17

Variant appearance in text: KCNQ1: R190Q

PubMed Link: 29666931

Variant Present in the following documents:

• Main text

View BVdb publication page

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Human pluripotent stem cell models of cardiac disease: from mechanisms to therapies.

Disease Models & Mechanisms

Brandão, Karina O KO; Tabel, Viola A VA; Atsma, Douwe E DE; Mummery, Christine L CL; Davis, Richard P RP

Publication Date: 2017-09-01

Variant appearance in text: LQT1: R190Q

PubMed Link: 28883014

Variant Present in the following documents:

• Main text

View BVdb publication page

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Distinct electrophysiological and mechanical beating phenotypes of long QT syndrome type 1-specific cardiomyocytes carrying different mutations.

International Journal Of Cardiology. Heart & Vasculature

Kiviaho, Anna L AL; Ahola, Antti A; Larsson, Kim K; Penttinen, Kirsi K; Swan, Heikki H; Pekkanen-Mattila, Mari M; Venäläinen, Henna H; Paavola, Kiti K; Hyttinen, Jari J; Aalto-Setälä, Katriina K

Publication Date: 2015-09-01

Variant appearance in text: LQT1: R190Q

PubMed Link: 28785673

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: KCNQ1: R190Q

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: KCNQ1: R190Q

PubMed Link: 28580434

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: KCNQ1: R190Q

PubMed Link: 28573431

Variant Present in the following documents:

• Main text

View BVdb publication page

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Electrophysiological Analysis of human Pluripotent Stem Cell-derived Cardiomyocytes (hPSC-CMs) Using Multi-electrode Arrays (MEAs).

Journal Of Visualized Experiments : Jove

Sala, Luca L; Ward-van Oostwaard, Dorien D; Tertoolen, Leon G J LGJ; Mummery, Christine L CL; Bellin, Milena M

Publication Date: 2017-05-12

Variant appearance in text: LQT1: R190Q

PubMed Link: 28570546

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: KCNQ1: 569G>A; Arg190Gln

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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From Bench to Market: Preparing Human Pluripotent Stem Cells Derived Cardiomyocytes for Various Applications.

International Journal Of Stem Cells

Moon, Sung-Hwan SH; Bae, Daekyeong D; Jung, Taek-Hee TH; Chung, Eun-Bin EB; Jeong, Young-Hoon YH; Park, Soon-Jung SJ; Chung, Hyung-Min HM

Publication Date: 2017-05-30

Variant appearance in text: KCNQ1: R190Q

PubMed Link: 28531912

Variant Present in the following documents:

• Main text
• ijsc-10-001.pdf

View BVdb publication page

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Subtype-specific promoter-driven action potential imaging for precise disease modelling and drug testing in hiPSC-derived cardiomyocytes.

European Heart Journal

Chen, Zhifen Z; Xian, Wenying W; Bellin, Milena M; Dorn, Tatjana T; Tian, Qinghai Q; Goedel, Alexander A; Dreizehnter, Lisa L; Schneider, Christine M CM; Ward-van Oostwaard, Dorien D; Ng, Judy King Man JK; Hinkel, Rabea R; Pane, Luna Simona LS; Mummery, Christine L CL; Lipp, Peter P; Moretti, Alessandra A; Laugwitz, Karl-Ludwig KL; Sinnecker, Daniel D

Publication Date: 2017-01-21

Variant appearance in text: LQT1: 569G>A

PubMed Link: 28182242

Variant Present in the following documents:

• Main text
• ehw189.pdf

View BVdb publication page

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Cardiac subtype characterization using all-optical action potential imaging.

European Heart Journal

Shukla, Praveen P; Wu, Joseph C JC

Publication Date: 2017-01-21

Variant appearance in text: LQT1: 569G>A

PubMed Link: 28182229

Variant Present in the following documents:

• Main text

View BVdb publication page

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Molecular Pathophysiology of Congenital Long QT Syndrome.

Physiological Reviews

Bohnen, M S MS; Peng, G G; Robey, S H SH; Terrenoire, C C; Iyer, V V; Sampson, K J KJ; Kass, R S RS

Publication Date: 2017-01

Variant appearance in text: KCNQ1: R190Q

PubMed Link: 27807201

Variant Present in the following documents:

• Main text

View BVdb publication page

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Molecular pathogenesis of long QT syndrome type 1.

Journal Of Arrhythmia

Wu, Jie J; Ding, Wei-Guang WG; Horie, Minoru M

Publication Date: 2016-10

Variant appearance in text: KCNQ1: R190Q

PubMed Link: 27761162

Variant Present in the following documents:

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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: LQT1: R190Q

PubMed Link: 27641943

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Phenotype guided characterization and molecular analysis of Indian patients with long QT syndromes.

Indian Pacing And Electrophysiology Journal

Vyas, Bijal B; Puri, Ratna D RD; Namboodiri, Narayanan N; Saxena, Renu R; Nair, Mohan M; Balakrishnan, Prahlad P; Jayakrishnan, M P MP; Udyavar, Ameya A; Kishore, Ravi R; Verma, Ishwar C IC

Publication Date: 2016

Variant appearance in text: LQT1: R190Q

PubMed Link: 27485560

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A new hERG allosteric modulator rescues genetic and drug-induced long-QT syndrome phenotypes in cardiomyocytes from isogenic pairs of patient induced pluripotent stem cells.

Embo Molecular Medicine

Sala, Luca L; Yu, Zhiyi Z; Ward-van Oostwaard, Dorien D; van Veldhoven, Jacobus Pd JP; Moretti, Alessandra A; Laugwitz, Karl-Ludwig KL; Mummery, Christine L CL; IJzerman, Adriaan P AP; Bellin, Milena M

Publication Date: 2016-09

Variant appearance in text: LQT1: R190Q

PubMed Link: 27470144

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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: KCNQ1: R190Q

PubMed Link: 27335446

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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: LQT1: 569G>A

PubMed Link: 27110425

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