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: 1031C>T; Ala344Val

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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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: A344V

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: Ala344Val

PubMed Link: 36102233

Variant Present in the following documents:

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

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Predicting the functional impact of KCNQ1 variants with artificial neural networks.

Plos Computational Biology

Phul, Saksham S; Kuenze, Georg G; Vanoye, Carlos G CG; Sanders, Charles R CR; George, Alfred L AL; Meiler, Jens J

Publication Date: 2022-04

Variant appearance in text: KCNQ1: A344V

PubMed Link: 35442947

Variant Present in the following documents:

• Main text
• pcbi.1010038.pdf

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Structural Modelling of KCNQ1 and KCNH2 Double Mutant Proteins, Identified in Two Severe Long QT Syndrome Cases, Reveals New Insights into Cardiac Channelopathies.

International Journal Of Molecular Sciences

Agudelo, William A WA; Gil-Quiñones, Sebastian Ramiro SR; Fonseca, Alejandra A; Arenas, Alvaro A; Castro, Laura L; Sierra-Díaz, Diana Carolina DC; Patarroyo, Manuel A MA; Laissue, Paul P; Suárez, Carlos F CF; Cabrera, Rodrigo R

Publication Date: 2021-11-28

Variant appearance in text: KCNQ1: 1031C>T

PubMed Link: 34884666

Variant Present in the following documents:

• Main text
• ijms-22-12861.pdf

View BVdb publication page

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Structural Modelling of KCNQ1 and KCNH2 Double Mutant Proteins, Identified in Two Severe Long QT Syndrome Cases, Reveals New Insights into Cardiac Channelopathies.

International Journal Of Molecular Sciences

Agudelo, William A WA; Gil-Quiñones, Sebastian Ramiro SR; Fonseca, Alejandra A; Arenas, Alvaro A; Castro, Laura L; Sierra-Díaz, Diana Carolina DC; Patarroyo, Manuel A MA; Laissue, Paul P; Suárez, Carlos F CF; Cabrera, Rodrigo R

Publication Date: 2021-11-28

Variant appearance in text: KCNQ1: 1031C>T

PubMed Link: 34884666

Variant Present in the following documents:

• Main text
• ijms-22-12861.pdf

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: A344V

PubMed Link: 34505893

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: KCNQ1: 1031C>T

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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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: A344V

PubMed Link: 32797034

Variant Present in the following documents:

• Main text
• pcbi.1008109.pdf

View BVdb publication page

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Two-stage electro-mechanical coupling of a KV channel in voltage-dependent activation.

Nature Communications

Hou, Panpan P; Kang, Po Wei PW; Kongmeneck, Audrey Deyawe AD; Yang, Nien-Du ND; Liu, Yongfeng Y; Shi, Jingyi J; Xu, Xianjin X; White, Kelli McFarland KM; Zaydman, Mark A MA; Kasimova, Marina A MA; Seebohm, Guiscard G; Zhong, Ling L; Zou, Xiaoqin X; Tarek, Mounir M; Cui, Jianmin J

Publication Date: 2020-02-03

Variant appearance in text: Kv7.1: A344V

PubMed Link: 32015334

Variant Present in the following documents:

• 41467_2020_Article_14406.pdf

View BVdb publication page

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Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics

Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM

Publication Date: 2019-10

Variant appearance in text: KCNQ1: 1031C>T; Ala344Val; rs199472763

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1
• pgen.1008409.s003.xlsx, sheet 1

View BVdb publication page

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Cardiac Evaluation of Children With a Family History of Sudden Death.

Journal Of The American College Of Cardiology

Webster, Gregory G; Olson, Rachael R; Schoppen, Zachary J ZJ; Giancola, Nicholas N; Balmert, Lauren C LC; Cherny, Sara S; George, Alfred L AL

Publication Date: 2019-08-13

Variant appearance in text: KCNQ1: Ala344Val

PubMed Link: 31395126

Variant Present in the following documents:

• Main text

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: A344V

PubMed Link: 31245010

Variant Present in the following documents:

• openhrt-2018-000929supp001.pdf

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: KCNQ1: A344V

PubMed Link: 30123799

Variant Present in the following documents:

• Main text
• fcvm-05-00106.pdf

View BVdb publication page

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Effects of protein-protein interactions and ligand binding on the ion permeation in KCNQ1 potassium channel.

Plos One

Jalily Hasani, Horia H; Ganesan, Aravindhan A; Ahmed, Marawan M; Barakat, Khaled H KH

Publication Date: 2018

Variant appearance in text: LQT1: Ala344Val

PubMed Link: 29444113

Variant Present in the following documents:

• Main text
• pone.0191905.pdf

View BVdb publication page

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Autosomal recessive long QT syndrome, type 1 in eight families from Saudi Arabia.

Molecular Genetics & Genomic Medicine

Bdier, Amnah Y AY; Al-Ghamdi, Saleh S; Verma, Prashant K PK; Dagriri, Khalid K; Alshehri, Bandar B; Jiman, Omamah A OA; Ahmed, Sherif E SE; Wilde, Arthur A M AAM; Bhuiyan, Zahurul A ZA; Al-Aama, Jumana Y JY

Publication Date: 2017-09

Variant appearance in text: KCNQ1: 1031C>T

PubMed Link: 28944242

Variant Present in the following documents:

• Main text
• MGG3-5-592.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: 1031C>T; Ala344Val

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: A344V

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: A344V

PubMed Link: 27761162

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Molecular analysis of urothelial cancer cell lines for modeling tumor biology and drug response.

Oncogene

Nickerson, M L ML; Witte, N N; Im, K M KM; Turan, S S; Owens, C C; Misner, K K; Tsang, S X SX; Cai, Z Z; Wu, S S; Dean, M M; Costello, J C JC; Theodorescu, D D

Publication Date: 2017-01-05

Variant appearance in text: KCNQ1: A344V

PubMed Link: 27270441

Variant Present in the following documents:

• onc2016172x3.xls, sheet 3

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: A344V

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: A344V

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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Enhanced effects of isoflurane on the long QT syndrome 1-associated A341V mutant.

Anesthesiology

Mikuni, Ikuomi I; Torres, Carlos G CG; Bakshi, Tania T; Tampo, Akihito A; Carlson, Brian E BE; Bienengraeber, Martin W MW; Kwok, Wai-Meng WM

Publication Date: 2015-04

Variant appearance in text: KCNQ1: A344V

PubMed Link: 25585005

Variant Present in the following documents:

• Main text

View BVdb publication page

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Long QT syndrome in South Africa: the results of comprehensive genetic screening.

Cardiovascular Journal Of Africa

Hedley, Paula L PL; Durrheim, Glenda A GA; Hendricks, Firzana F; Goosen, Althea A; Jespersgaard, Cathrine C; Støvring, Birgitte B; Pham, Tam T TT; Christiansen, Michael M; Brink, Paul A PA; Corfield, Valerie A VA

Publication Date: 2013-07

Variant appearance in text: Kv7.1: 1031C>T

PubMed Link: 24217263

Variant Present in the following documents:

• Main text
• cvja-24-231.pdf

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: A344V

PubMed Link: 23130128

Variant Present in the following documents:

• Main text
• jah3-1-e000570.pdf

View BVdb publication page

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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: A344V

PubMed Link: 22199116

Variant Present in the following documents:

View BVdb publication page

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Desensitization of chemical activation by auxiliary subunits: convergence of molecular determinants critical for augmenting KCNQ1 potassium channels.

The Journal Of Biological Chemistry

Gao, Zhaobing Z; Xiong, Qiaojie Q; Sun, Haiyan H; Li, Min M

Publication Date: 2008-08-15

Variant appearance in text: KCNQ1: A344V

PubMed Link: 18490447

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: A344V

PubMed Link: 17470695

Variant Present in the following documents:

• Main text

View BVdb publication page

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