Publications:

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Next-Generation Sequencing Gene Panels in Inheritable Cardiomyopathies and Channelopathies: Prevalence of Pathogenic Variants and Variants of Unknown Significance in Uncommon Genes.

Biomolecules

Mazzaccara, Cristina C; Lombardi, Raffaella R; Mirra, Bruno B; Barretta, Ferdinando F; Esposito, Maria Valeria MV; Uomo, Fabiana F; Caiazza, Martina M; Monda, Emanuele E; Losi, Maria Angela MA; Limongelli, Giuseppe G; D'Argenio, Valeria V; Frisso, Giulia G

Publication Date: 2022-10-03

Variant appearance in text: SCN5A: 2441G>A; Arg814Gln; rs199473584

PubMed Link: 36291626

Variant Present in the following documents:

• biomolecules-12-01417.pdf

View BVdb publication page

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Genetic Diagnostic Yield and Novel Causal Genes of Congenital Heart Disease.

Frontiers In Genetics

Tan, Meihua M; Wang, Xinrui X; Liu, Hongjie H; Peng, Xiaoyan X; Yang, You Y; Yu, Haifei H; Xu, Liangpu L; Li, Jia J; Cao, Hua H

Publication Date: 2022

Variant appearance in text: SCN5A: 2441G>A; R814Q; rs199473584

PubMed Link: 35910219

Variant Present in the following documents:

• DataSheet1.xlsx, sheet 7

View BVdb publication page

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Gene variant effects across sodium channelopathies predict function and guide precision therapy.

Brain : A Journal Of Neurology

Brunklaus, Andreas A; Feng, Tony T; Brünger, Tobias T; Perez-Palma, Eduardo E; Heyne, Henrike H; Matthews, Emma E; Semsarian, Christopher C; Symonds, Joseph D JD; Zuberi, Sameer M SM; Lal, Dennis D; Schorge, Stephanie S

Publication Date: 2022-01-17

Variant appearance in text: SCN5A: R814Q

PubMed Link: 35037686

Variant Present in the following documents:

• awac006_Supplementary_Data.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: SCN5A: 2441G>A; Arg814Gln

PubMed Link: 32893267

Variant Present in the following documents:

• 41436_2020_946_MOESM2_ESM.xlsx, sheet 11
• 41436_2020_946_MOESM2_ESM.xlsx, sheet 3
• 41436_2020_946_MOESM2_ESM.xlsx, sheet 4
• 41436_2020_946_MOESM2_ESM.xlsx, sheet 12

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: SCN5A: 2441G>A; Arg814Gln

PubMed Link: 32659924

Variant Present in the following documents:

• Main text
• jcm-09-02168.pdf

View BVdb publication page

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Frequency of genomic secondary findings among 21,915 eMERGE network participants.

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

,

Publication Date: 2020-09

Variant appearance in text: SCN5A: 2441G>A; Arg814Gln

PubMed Link: 32546831

Variant Present in the following documents:

• NIHMS1615423-supplement-Supplementary_Table_2.xlsx, sheet 1

View BVdb publication page

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High-Throughput Reclassification of SCN5A Variants.

American Journal Of Human Genetics

Glazer, Andrew M AM; Wada, Yuko Y; Li, Bian B; Muhammad, Ayesha A; Kalash, Olivia R OR; O'Neill, Matthew J MJ; Shields, Tiffany T; Hall, Lynn L; Short, Laura L; Blair, Marcia A MA; Kroncke, Brett M BM; Capra, John A JA; Roden, Dan M DM

Publication Date: 2020-07-02

Variant appearance in text: SCN5A: Arg814Gln

PubMed Link: 32533946

Variant Present in the following documents:

• Main text

View BVdb publication page

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Clinical and Genetic Findings in Children Presenting With Ventricular Fibrillation as the First Manifestation of Cardiovascular Disease.

Journal Of The American Heart Association

Hylind, Robyn J RJ; Chandler, Stephanie F SF; Beausejour Ladouceur, Virginie V; Jamal, Shelina M SM; Alexander, Mark E ME; Mah, Douglas Y DY; Phaneuf, Emily A EA; DeWitt, Elizabeth S ES; Bezzerides, Vassilios J VJ; Abrams, Dominic J DJ

Publication Date: 2020-05-18

Variant appearance in text: SCN5A: R814Q

PubMed Link: 32389048

Variant Present in the following documents:

• Main text
• JAH3-9-e016322.pdf

View BVdb publication page

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Returning genomic results in a Federally Qualified Health Center: the intersection of precision medicine and social determinants of health.

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

Shaibi, Gabriel Q GQ; Kullo, Iftikhar J IJ; Singh, Davinder P DP; Hernandez, Valentina V; Sharp, Richard R RR; Cuellar, Idali I; De Filippis, Eleanna E; Levey, Sharon S; Breitkopf, Carmen Radecki CR; Mandarino, Lawrence J LJ; Yang, Ping P; Thibodeau, Stephen N SN; Lindor, Noralane M NM

Publication Date: 2020-09

Variant appearance in text: SCN5A: 2441G>A; Arg814Gln

PubMed Link: 32371921

Variant Present in the following documents:

• Main text

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: SCN5A: 2441G>A; Arg814Gln; rs199473584

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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Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy.

Circulation

Mazzarotto, Francesco F; Tayal, Upasana U; Buchan, Rachel J RJ; Midwinter, William W; Wilk, Alicja A; Whiffin, Nicola N; Govind, Risha R; Mazaika, Erica E; de Marvao, Antonio A; Dawes, Timothy J W TJW; Felkin, Leanne E LE; Ahmad, Mian M; Theotokis, Pantazis I PI; Edwards, Elizabeth E; Ing, Alexander Y AY; Thomson, Kate L KL; Chan, Laura L H LLH; Sim, David D; Baksi, A John AJ; Pantazis, Antonis A; Roberts, Angharad M AM; Watkins, Hugh H; Funke, Birgit B; O'Regan, Declan P DP; Olivotto, Iacopo I; Barton, Paul J R PJR; Prasad, Sanjay K SK; Cook, Stuart A SA; Ware, James S JS; Walsh, Roddy R

Publication Date: 2020-02-04

Variant appearance in text: SCN5A: 2441G>A; Arg814Gln

PubMed Link: 31983221

Variant Present in the following documents:

• cir-141-387-s002.xlsx, sheet 7
• cir-141-387-s002.xlsx, sheet 3

View BVdb publication page

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Structure of the Cardiac Sodium Channel.

Cell

Jiang, Daohua D; Shi, Hui H; Tonggu, Lige L; Gamal El-Din, Tamer M TM; Lenaeus, Michael J MJ; Zhao, Yan Y; Yoshioka, Craig C; Zheng, Ning N; Catterall, William A WA

Publication Date: 2020-01-09

Variant appearance in text: LQT3: R814Q

PubMed Link: 31866066

Variant Present in the following documents:

• Main text

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: SCN5A: 2441G>A; Arg814Gln; rs199473584

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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A New Cardiac Channelopathy: From Clinical Phenotypes to Molecular Mechanisms Associated With Nav1.5 Gating Pores.

Frontiers In Cardiovascular Medicine

Moreau, Adrien A; Chahine, Mohamed M

Publication Date: 2018

Variant appearance in text: LQT3: R814Q

PubMed Link: 30356750

Variant Present in the following documents:

• Main text
• fcvm-05-00139.pdf

View BVdb publication page

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Genetic variation in human drug-related genes.

Genome Medicine

Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS

Publication Date: 2017-12-22

Variant appearance in text: rs199473584

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

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: SCN5A: 2441G>A; Arg814Gln

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Structure-based assessment of disease-related mutations in human voltage-gated sodium channels.

Protein & Cell

Huang, Weiyun W; Liu, Minhao M; Yan, S Frank SF; Yan, Nieng N

Publication Date: 2017-06

Variant appearance in text: LQT3: R814Q

PubMed Link: 28150151

Variant Present in the following documents:

• Main text

View BVdb publication page

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Physiological and Pathophysiological Insights of Nav1.4 and Nav1.5 Comparison.

Frontiers In Pharmacology

Loussouarn, Gildas G; Sternberg, Damien D; Nicole, Sophie S; Marionneau, Céline C; Le Bouffant, Francoise F; Toumaniantz, Gilles G; Barc, Julien J; Malak, Olfat A OA; Fressart, Véronique V; Péréon, Yann Y; Baró, Isabelle I; Charpentier, Flavien F

Publication Date: 2015

Variant appearance in text: Nav1.5: R814Q

PubMed Link: 26834636

Variant Present in the following documents:

• Main text
• fphar-06-00314.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: LQT3: R814Q

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: SCN5A: R814Q

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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Biophysics, pathophysiology, and pharmacology of ion channel gating pores.

Frontiers In Pharmacology

Moreau, Adrien A; Gosselin-Badaroudine, Pascal P; Chahine, Mohamed M

Publication Date: 2014

Variant appearance in text: SCN5A: R814Q

PubMed Link: 24772081

Variant Present in the following documents:

• Main text
• fphar-05-00053.pdf

View BVdb publication page

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Genetics can contribute to the prognosis of Brugada syndrome: a pilot model for risk stratification.

European Journal Of Human Genetics : Ejhg

Sommariva, Elena E; Pappone, Carlo C; Martinelli Boneschi, Filippo F; Di Resta, Chiara C; Rosaria Carbone, Maria M; Salvi, Erika E; Vergara, Pasquale P; Sala, Simone S; Cusi, Daniele D; Ferrari, Maurizio M; Benedetti, Sara S

Publication Date: 2013-09

Variant appearance in text: SCN5A: 2441G>A

PubMed Link: 23321620

Variant Present in the following documents:

• Main text

View BVdb publication page

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Pathophysiological role of omega pore current in channelopathies.

Frontiers In Pharmacology

Jurkat-Rott, Karin K; Groome, James J; Lehmann-Horn, Frank F

Publication Date: 2012

Variant appearance in text: SCN5A: R814Q

PubMed Link: 22701429

Variant Present in the following documents:

• Main text

View BVdb publication page

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SCN5A rare variants in familial dilated cardiomyopathy decrease peak sodium current depending on the common polymorphism H558R and common splice variant Q1077del.

Clinical And Translational Science

Cheng, Jianding J; Morales, Ana A; Siegfried, Jill D JD; Li, Duanxiang D; Norton, Nadine N; Song, Junyao J; Gonzalez-Quintana, Jorge J; Makielski, Jonathan C JC; Hershberger, Ray E RE

Publication Date: 2010-12

Variant appearance in text: SCN5A: R814Q

PubMed Link: 21167004

Variant Present in the following documents:

• Main text

View BVdb publication page

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