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: 940G>A; Gly314Ser

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

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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: 940G>A; Gly314Ser

PubMed Link: 35947370

Variant Present in the following documents:

• jamacardiol-e222455-s002.xlsx, sheet 1

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: KCNQ1: G314S

PubMed Link: 35647048

Variant Present in the following documents:

• Main text
• fcvm-09-889519.pdf

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Thyroid hormones regulate cardiac repolarization and QT-interval related gene expression in hiPSC cardiomyocytes.

Scientific Reports

Ulivieri, Alessandra A; Lavra, Luca L; Magi, Fiorenza F; Morgante, Alessandra A; Calò, Leonardo L; Polisca, Patrizio P; Salehi, Leila B LB; Sciacchitano, Salvatore S

Publication Date: 2022-01-12

Variant appearance in text: KCNQ1: G314S

PubMed Link: 35022468

Variant Present in the following documents:

• 41598_2021_Article_4659.pdf

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Initial experience and results of a cardiogenetic clinic in a tertiary cardiac care center in India.

Annals Of Pediatric Cardiology

Rajan, Saileela S; Chockalingam, Priya P; Koneti, Nageswara Rao NR; Geetha, Thenral S TS; Mishra, Sanghamitra S; Narasimhan, Calambur C

Publication Date: 2021

Variant appearance in text: KCNQ1: Gly314Ser

PubMed Link: 34667425

Variant Present in the following documents:

• Main text
• APC-14-443.pdf

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Cell death-inducing cytotoxicity in truncated KCNQ4 variants associated with DFNA2 hearing loss.

Disease Models & Mechanisms

Kojima, Takashi T; Wasano, Koichiro K; Takahashi, Satoe S; Homma, Kazuaki K

Publication Date: 2021-11-01

Variant appearance in text: Kv7.1: G314S

PubMed Link: 34622280

Variant Present in the following documents:

• Main text

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Long-QT founder variant T309I-Kv7.1 with dominant negative pattern may predispose delayed afterdepolarizations under β-adrenergic stimulation.

Scientific Reports

Synková, Iva I; Bébarová, Markéta M; Andršová, Irena I; Chmelikova, Larisa L; Švecová, Olga O; Hošek, Jan J; Pásek, Michal M; Vít, Pavel P; Valášková, Iveta I; Gaillyová, Renata R; Navrátil, Rostislav R; Novotný, Tomáš T

Publication Date: 2021-02-11

Variant appearance in text: LQT1: G314S

PubMed Link: 33574382

Variant Present in the following documents:

• 41598_2021_Article_81670.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: 940G>A

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

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A computational model of induced pluripotent stem-cell derived cardiomyocytes for high throughput risk stratification of KCNQ1 genetic variants.

Plos Computational Biology

Kernik, Divya C DC; Yang, Pei-Chi PC; Kurokawa, Junko J; Wu, Joseph C JC; Clancy, Colleen E CE

Publication Date: 2020-08

Variant appearance in text: KCNQ1: G314S

PubMed Link: 32797034

Variant Present in the following documents:

• Main text
• pcbi.1008109.pdf

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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: KCNQ1: G314S

PubMed Link: 32431610

Variant Present in the following documents:

• Main text
• Table_1.xlsx, sheet 1
• fphar-11-00550.pdf

View BVdb publication page

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Compound and heterozygous mutations of KCNQ1 in long QT syndrome with familial history of unexplained sudden death: Identified by analysis of whole exome sequencing and predisposing genes.

Annals Of Noninvasive Electrocardiology : The Official Journal Of The International Society For Holter And Noninvasive Electrocardiology, Inc

Lin, Yubi Y; Zhao, Ting T; He, Siqi S; Huang, Jiana J; Liu, Qianru Q; Yang, Zhe Z; Qin, Jiading J; Yu, Nan N; Lu, Hongyun H; Lin, Xiufang X

Publication Date: 2020-01

Variant appearance in text: KCNQ1: G314S

PubMed Link: 31565860

Variant Present in the following documents:

• Main text
• ANEC-25-e12694.pdf

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REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports

Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D

Publication Date: 2019-09-04

Variant appearance in text: KCNQ1: 940G>A; G314S

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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Heritability in genetic heart disease: the role of genetic background.

Open Heart

Jansweijer, Joeri A JA; van Spaendonck-Zwarts, Karin Y KY; Tanck, Michael W T MWT; van Tintelen, J Peter JP; Christiaans, Imke I; van der Smagt, Jasper J; Vermeer, Alexa A; Bos, J Martijn JM; Moss, Arthur J AJ; Swan, Heikki H; Priori, Sylvia G SG; Rydberg, Annika A; Tfelt-Hansen, Jacob J; Ackerman, Michael J MJ; Olivotto, Iacopo I; Charron, Philippe P; Gimeno, Juan R JR; van den Berg, Maarten M; Wilde, Arthur A M AAM; Pinto, Yigal M YM

Publication Date: 2019

Variant appearance in text: KCNQ1: G314S

PubMed Link: 31245010

Variant Present in the following documents:

• openhrt-2018-000929supp001.pdf

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High-Throughput Functional Evaluation of KCNQ1 Decrypts Variants of Unknown Significance.

Circulation. Genomic And Precision Medicine

Vanoye, Carlos G CG; Desai, Reshma R RR; Fabre, Katarina L KL; Gallagher, Shannon L SL; Potet, Franck F; DeKeyser, Jean-Marc JM; Macaya, Daniela D; Meiler, Jens J; Sanders, Charles R CR; George, Alfred L AL

Publication Date: 2018-11

Variant appearance in text: KCNQ1: G314S

PubMed Link: 30571187

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genotype and clinical characteristics of congenital long QT syndrome in Thailand.

Indian Pacing And Electrophysiology Journal

Saprungruang, Ankavipar A; Khongphatthanayothin, Apichai A; Mauleekoonphairoj, John J; Wandee, Pharawee P; Kanjanauthai, Supaluck S; Bhuiyan, Zahurul A ZA; Wilde, Arthur A M AAM; Poovorawan, Yong Y

Publication Date: 2018

Variant appearance in text: KCNQ1: 940G>A

PubMed Link: 30036649

Variant Present in the following documents:

• Main text
• main.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: KCNQ1: 940G>A; Gly314Ser

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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: LQT1: G314S

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: G314S

PubMed Link: 27761162

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Improved Clinical Risk Stratification in Patients with Long QT Syndrome? Novel Insights from Multi-Channel ECGs.

Plos One

Samol, Alexander A; Gönes, Mehmet M; Zumhagen, Sven S; Bruns, Hans-Jürgen HJ; Paul, Matthias M; Vahlhaus, Christian C; Waltenberger, Johannes J; Schulze-Bahr, Eric E; Eckardt, Lars L; Mönnig, Gerold G

Publication Date: 2016

Variant appearance in text: LQT1: Gly314Ser

PubMed Link: 27379800

Variant Present in the following documents:

• Main text
• pone.0158085.pdf

View BVdb publication page

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QT Adaptation and Intrinsic QT Variability in Congenital Long QT Syndrome.

Journal Of The American Heart Association

Seethala, Srikanth S; Singh, Prabhpreet P; Shusterman, Vladimir V; Ribe, Margareth M; Haugaa, Kristina H KH; Němec, Jan J

Publication Date: 2015-12-16

Variant appearance in text: LQT1: 940G>A

PubMed Link: 26675252

Variant Present in the following documents:

• JAH3-4-e002395.pdf

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: LQT1: G314S

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: KCNQ1: G314S

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

View BVdb publication page

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Bayesian models for syndrome- and gene-specific probabilities of novel variant pathogenicity.

Genome Medicine

Ruklisa, Dace D; Ware, James S JS; Walsh, Roddy R; Balding, David J DJ; Cook, Stuart A SA

Publication Date: 2015

Variant appearance in text: KCNQ1: 940G>A

PubMed Link: 25649125

Variant Present in the following documents:

• 13073_2014_120_MOESM1_ESM.pdf

View BVdb publication page

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Vagal reflexes following an exercise stress test: a simple clinical tool for gene-specific risk stratification in the long QT syndrome.

Journal Of The American College Of Cardiology

Crotti, Lia L; Spazzolini, Carla C; Porretta, Alessandra P AP; Dagradi, Federica F; Taravelli, Erika E; Petracci, Barbara B; Vicentini, Alessandro A; Pedrazzini, Matteo M; La Rovere, Maria Teresa MT; Vanoli, Emilio E; Goosen, Althea A; Heradien, Marshall M; George, Alfred L AL; Brink, Paul A PA; Schwartz, Peter J PJ

Publication Date: 2012-12-18

Variant appearance in text: KCNQ1: G314S

PubMed Link: 23158531

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genotype- and Sex-Specific QT-RR Relationship in the Type-1 Long-QT Syndrome.

Journal Of The American Heart Association

Couderc, Jean-Philippe JP; Xia, Xiaojuan X; Denjoy, Isabelle I; Extramiana, Fabrice F; Maison-Blanche, Pierre P; Moss, Arthur J AJ; Zareba, Wojciech W; Lopes, Coeli M CM

Publication Date: 2012-04

Variant appearance in text: LQT1: G314S

PubMed Link: 23130128

Variant Present in the following documents:

• Main text
• jah3-1-e000570.pdf

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Variants in the 3' untranslated region of the KCNQ1-encoded Kv7.1 potassium channel modify disease severity in patients with type 1 long QT syndrome in an allele-specific manner.

European Heart Journal

Amin, Ahmad S AS; Giudicessi, John R JR; Tijsen, Anke J AJ; Spanjaart, Anne M AM; Reckman, Yolan J YJ; Klemens, Christine A CA; Tanck, Michael W MW; Kapplinger, Jamie D JD; Hofman, Nynke N; Sinner, Moritz F MF; Müller, Martina M; Wijnen, Wino J WJ; Tan, Hanno L HL; Bezzina, Connie R CR; Creemers, Esther E EE; Wilde, Arthur A M AA; Ackerman, Michael J MJ; Pinto, Yigal M YM

Publication Date: 2012-03

Variant appearance in text: KCNQ1: G314S

PubMed Link: 22199116

Variant Present in the following documents:

View BVdb publication page

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Recurrent and Founder Mutations in the Netherlands: the Long-QT Syndrome.

Netherlands Heart Journal : Monthly Journal Of The Netherlands Society Of Cardiology And The Netherlands Heart Foundation

Hofman, N N; Jongbloed, R R; Postema, P G PG; Nannenberg, E E; Alders, M M; Wilde, A A M AA

Publication Date: 2011-01

Variant appearance in text: KCNQ1: Gly314Ser

PubMed Link: 21350584

Variant Present in the following documents:

• Main text

View BVdb publication page

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Phenotypic variability in Caucasian and Japanese patients with matched LQT1 mutations.

Annals Of Noninvasive Electrocardiology : The Official Journal Of The International Society For Holter And Noninvasive Electrocardiology, Inc

Liu, Judy F JF; Goldenberg, Ilan I; Moss, Arthur J AJ; Shimizu, Wataru W; Wilde, Arthur A AA; Hofman, Nynke N; McNitt, Scott S; Zareba, Wojciech W; Miyamato, Yoshihiro Y; Robinson, Jennifer L JL; Andrews, Mark L ML

Publication Date: 2008-07

Variant appearance in text: KCNQ1: G314S

PubMed Link: 18713323

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: G314S

PubMed Link: 17470695

Variant Present in the following documents:

• Main text

View BVdb publication page

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Structural determinants of M-type KCNQ (Kv7) K+ channel assembly.

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience

Schwake, Michael M; Athanasiadu, Despina D; Beimgraben, Christian C; Blanz, Judith J; Beck, Christian C; Jentsch, Thomas J TJ; Saftig, Paul P; Friedrich, Thomas T

Publication Date: 2006-04-05

Variant appearance in text: KCNQ1: G314S

PubMed Link: 16597729

Variant Present in the following documents:

• Main text

View BVdb publication page

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Molecular determinants of KCNQ (Kv7) K+ channel sensitivity to the anticonvulsant retigabine.

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience

Schenzer, Anne A; Friedrich, Thomas T; Pusch, Michael M; Saftig, Paul P; Jentsch, Thomas J TJ; Grötzinger, Joachim J; Schwake, Michael M

Publication Date: 2005-05-18

Variant appearance in text: KCNQ1: G314S

PubMed Link: 15901787

Variant Present in the following documents:

• Main text

View BVdb publication page

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A carboxy-terminal domain determines the subunit specificity of KCNQ K+ channel assembly.

Embo Reports

Schwake, Michael M; Jentsch, Thomas J TJ; Friedrich, Thomas T

Publication Date: 2003-01

Variant appearance in text: KCNQ1: G314S

PubMed Link: 12524525

Variant Present in the following documents:

• Main text

View BVdb publication page

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A recessive C-terminal Jervell and Lange-Nielsen mutation of the KCNQ1 channel impairs subunit assembly.

The Embo Journal

Schmitt, N N; Schwarz, M M; Peretz, A A; Abitbol, I I; Attali, B B; Pongs, O O

Publication Date: 2000-02-01

Variant appearance in text: LQT1: G314S

PubMed Link: 10654932

Variant Present in the following documents:

• Main text

View BVdb publication page

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