Publications:

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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: Y171X

PubMed Link: 36277779

Variant Present in the following documents:

• Data_Sheet_1.pdf

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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: 513C>A; Tyr171*

PubMed Link: 35947370

Variant Present in the following documents:

• jamacardiol-e222455-s002.xlsx, sheet 1

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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: LQT1: Y171X

PubMed Link: 35647048

Variant Present in the following documents:

• Main text
• fcvm-09-889519.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: KCNQ1: 513C>A; Tyr171*

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

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Jervell and Lange-Nielsen Syndrome due to a Novel Compound Heterozygous KCNQ1 Mutation in a Chinese Family.

Neural Plasticity

Qiu, Yue Y; Chen, Sen S; Wu, Xia X; Zhang, Wen-Juan WJ; Xie, Wen W; Jin, Yuan Y; Xie, Le L; Xu, Kai K; Bai, Xue X; Zhang, Hui-Min HM; Liu, Xiao-Zhou XZ; Wang, Xiao-Hui XH; Sun, Yu Y; Kong, Wei-Jia WJ

Publication Date: 2020

Variant appearance in text: KCNQ1: Y171X

PubMed Link: 32508908

Variant Present in the following documents:

• Main text
• NP2020-3569359.pdf

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The Role of KCNQ1 Mutations and Maternal Beta Blocker Use During Pregnancy in the Growth of Children With Long QT Syndrome.

Frontiers In Endocrinology

Huttunen, Heta H; Hero, Matti M; Lääperi, Mitja M; Känsäkoski, Johanna J; Swan, Heikki H; Hirsch, Joel A JA; Miettinen, Päivi J PJ; Raivio, Taneli T

Publication Date: 2018

Variant appearance in text: KCNQ1: Tyr171Ter

PubMed Link: 29740400

Variant Present in the following documents:

• Main text
• fendo-09-00194.pdf

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Stop-codon and C-terminal nonsense mutations are associated with a lower risk of cardiac events in patients with long QT syndrome type 1.

Heart Rhythm

Ruwald, Martin H MH; Xu Parks, Xiaorong X; Moss, Arthur J AJ; Zareba, Wojciech W; Baman, Jayson J; McNitt, Scott S; Kanters, Jorgen K JK; Shimizu, Wataru W; Wilde, Arthur A AA; Jons, Christian C; Lopes, Coeli M CM

Publication Date: 2016-01

Variant appearance in text: KCNQ1: Y171X

PubMed Link: 26318259

Variant Present in the following documents:

• Main text

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Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac death.

Human Genomics

Li, Mindy H MH; Abrudan, Jenica L JL; Dulik, Matthew C MC; Sasson, Ariella A; Brunton, Joshua J; Jayaraman, Vijayakumar V; Dugan, Noreen N; Haley, Danielle D; Rajagopalan, Ramakrishnan R; Biswas, Sawona S; Sarmady, Mahdi M; DeChene, Elizabeth T ET; Deardorff, Matthew A MA; Wilkens, Alisha A; Noon, Sarah E SE; Scarano, Maria I MI; Santani, Avni B AB; White, Peter S PS; Pennington, Jeffrey J; Conlin, Laura K LK; Spinner, Nancy B NB; Krantz, Ian D ID; Vetter, Victoria L VL

Publication Date: 2015-07-19

Variant appearance in text: KCNQ1: 513C>A; Tyr171*

PubMed Link: 26187847

Variant Present in the following documents:

• Main text
• 40246_2015_Article_38.pdf

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Prevalence and potential genetic determinants of sensorineural deafness in KCNQ1 homozygosity and compound heterozygosity.

Circulation. Cardiovascular Genetics

Giudicessi, John R JR; Ackerman, Michael J MJ

Publication Date: 2013-04

Variant appearance in text: JLNS1: Y171X

PubMed Link: 23392653

Variant Present in the following documents:

• Main text

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KCNE1 D85N polymorphism--a sex-specific modifier in type 1 long QT syndrome?

Bmc Medical Genetics

Lahtinen, Annukka M AM; Marjamaa, Annukka A; Swan, Heikki H; Kontula, Kimmo K

Publication Date: 2011-01-18

Variant appearance in text: KCNQ1: Y171X

PubMed Link: 21244686

Variant Present in the following documents:

• Main text
• 1471-2350-12-11.pdf

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Ion channel mechanisms related to sudden cardiac death in phenotype-negative long-QT syndrome genotype-phenotype correlations of the KCNQ1(S349W) mutation.

Journal Of Cardiovascular Electrophysiology

Horr, Samuel S; Goldenberg, Ilan I; Moss, Arthur J AJ; O-Uchi, Jin J; Barsheshet, Alon A; Connelly, Heather H; Gray, Daniel A DA; Zareba, Wojciech W; Lopes, Coeli M B CM

Publication Date: 2011-02

Variant appearance in text: KCNQ1: Y171X

PubMed Link: 20662986

Variant Present in the following documents:

• Main text

View BVdb publication page

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Clinical aspects of type-1 long-QT syndrome by location, coding type, and biophysical function of mutations involving the KCNQ1 gene.

Circulation

Moss, Arthur J AJ; Shimizu, Wataru W; Wilde, Arthur A M AA; Towbin, Jeffrey A JA; Zareba, Wojciech W; Robinson, Jennifer L JL; Qi, Ming M; Vincent, G Michael GM; Ackerman, Michael J MJ; Kaufman, Elizabeth S ES; Hofman, Nynke N; Seth, Rahul R; Kamakura, Shiro S; Miyamoto, Yoshihiro Y; Goldenberg, Ilan I; Andrews, Mark L ML; McNitt, Scott S

Publication Date: 2007-05-15

Variant appearance in text: KCNQ1: Y171X

PubMed Link: 17470695

Variant Present in the following documents:

• Main text

View BVdb publication page

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