Publications:

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: SCN5A: 2440C>T; Arg814Trp

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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: SCN5A: 2440C>T; Arg814Trp

PubMed Link: 35947370

Variant Present in the following documents:

• jamacardiol-e222455-s002.xlsx, sheet 1

View BVdb publication page

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Titin-Related Dilated Cardiomyopathy: The Clinical Trajectory and the Role of Circulating Biomarkers in the Clinical Assessment.

Diagnostics (Basel, Switzerland)

Chmielewski, Przemysław P; Truszkowska, Grażyna G; Kowalik, Ilona I; Rydzanicz, Małgorzata M; Michalak, Ewa E; Sobieszczańska-Małek, Małgorzata M; Franaszczyk, Maria M; Stawiński, Piotr P; Stępień-Wojno, Małgorzata M; Oręziak, Artur A; Lewandowski, Michał M; Leszek, Przemysław P; Bilińska, Maria M; Zieliński, Tomasz T; Płoski, Rafał R; Bilińska, Zofia T ZT

Publication Date: 2021-12-22

Variant appearance in text: SCN5A: R814W

PubMed Link: 35054181

Variant Present in the following documents:

• diagnostics-12-00013.pdf

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Network Pharmacology-Based Systematic Analysis of Molecular Mechanisms of Dingji Fumai Decoction for Ventricular Arrhythmia.

Evidence-Based Complementary And Alternative Medicine : Ecam

Liang, Yi Y; Liang, Bo B; Wu, Xin-Rui XR; Chen, Wen W; Zhao, Li-Zhi LZ

Publication Date: 2021

Variant appearance in text: SCN5A: R814W

PubMed Link: 34046076

Variant Present in the following documents:

• ECAM2021-5535480.pdf

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Genomic Context Differs Between Human Dilated Cardiomyopathy and Hypertrophic Cardiomyopathy.

Journal Of The American Heart Association

Puckelwartz, Megan J MJ; Pesce, Lorenzo L LL; Dellefave-Castillo, Lisa M LM; Wheeler, Matthew T MT; Pottinger, Tess D TD; Robinson, Avery C AC; Kearns, Samuel D SD; Gacita, Anthony M AM; Schoppen, Zachary J ZJ; Pan, Wenyu W; Kim, Gene G; Wilcox, Jane E JE; Anderson, Allen S AS; Ashley, Euan A EA; Day, Sharlene M SM; Cappola, Thomas T; Dorn, Gerald W GW; McNally, Elizabeth M EM

Publication Date: 2021-04-06

Variant appearance in text: SCN5A: R814W

PubMed Link: 33764162

Variant Present in the following documents:

• JAH3-10-e019944-s001.pdf

View BVdb publication page

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Voltage-Gated Ca2+-Channel α1-Subunit de novo Missense Mutations: Gain or Loss of Function - Implications for Potential Therapies.

Frontiers In Synaptic Neuroscience

Striessnig, Jörg J

Publication Date: 2021

Variant appearance in text: Nav1.5: R814W

PubMed Link: 33746731

Variant Present in the following documents:

• Main text
• fnsyn-13-634760.pdf

View BVdb publication page

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A combination of quinidine/mexiletine reduces arrhythmia in dilated cardiomyopathy in two patients with R814W SCN5A mutation.

Esc Heart Failure

Zakrzewska-Koperska, Joanna J; Bilińska, Zofia T ZT; Truszkowska, Grażyna T GT; Franaszczyk, Maria M; Elikowski, Waldemar W; Warmiński, Grzegorz G; Kalin, Katarzyna K; Urbanek, Piotr P; Bodalski, Robert R; Orczykowski, Michał M; Szumowski, Łukasz Ł; Płoski, Rafał R; Bilińska, Maria M

Publication Date: 2020-10-20

Variant appearance in text: SCN5A: 2440C>T; R814W

PubMed Link: 33084224

Variant Present in the following documents:

• Main text
• EHF2-7-4326.pdf

View BVdb publication page

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A combination of quinidine/mexiletine reduces arrhythmia in dilated cardiomyopathy in two patients with R814W SCN5A mutation.

Esc Heart Failure

Zakrzewska-Koperska, Joanna J; Bilińska, Zofia T ZT; Truszkowska, Grażyna T GT; Franaszczyk, Maria M; Elikowski, Waldemar W; Warmiński, Grzegorz G; Kalin, Katarzyna K; Urbanek, Piotr P; Bodalski, Robert R; Orczykowski, Michał M; Szumowski, Łukasz Ł; Płoski, Rafał R; Bilińska, Maria M

Publication Date: 2020-12

Variant appearance in text: SCN5A: 2440C>T; R814W

PubMed Link: 33084224

Variant Present in the following documents:

• Main text
• EHF2-7-4326.pdf

View BVdb publication page

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Landscape of somatic single nucleotide variants and indels in colorectal cancer and impact on survival.

Nature Communications

Zaidi, Syed H SH; Harrison, Tabitha A TA; Phipps, Amanda I AI; Steinfelder, Robert R; Trinh, Quang M QM; Qu, Conghui C; Banbury, Barbara L BL; Georgeson, Peter P; Grasso, Catherine S CS; Giannakis, Marios M; Adams, Jeremy B JB; Alwers, Elizabeth E; Amitay, Efrat L EL; Barfield, Richard T RT; Berndt, Sonja I SI; Borozan, Ivan I; Brenner, Hermann H; Brezina, Stefanie S; Buchanan, Daniel D DD; Cao, Yin Y; Chan, Andrew T AT; Chang-Claude, Jenny J; Connolly, Charles M CM; Drew, David A DA; Farris, Alton Brad AB; Figueiredo, Jane C JC; French, Amy J AJ; Fuchs, Charles S CS; Garraway, Levi A LA; Gruber, Steve S; Guinter, Mark A MA; Hamilton, Stanley R SR; Harlid, Sophia S; Heisler, Lawrence E LE; Hidaka, Akihisa A; Hopper, John L JL; Huang, Wen-Yi WY; Huyghe, Jeroen R JR; Jenkins, Mark A MA; Krzyzanowski, Paul M PM; Lemire, Mathieu M; Lin, Yi Y; Luo, Xuemei X; Mardis, Elaine R ER; McPherson, John D JD; Miller, Jessica K JK; Moreno, Victor V; Mu, Xinmeng Jasmine XJ; Nishihara, Reiko R; Papadopoulos, Nickolas N; Pasternack, Danielle D; Quist, Michael J MJ; Rafikova, Adilya A; Reid, Emma E G EEG; Shinbrot, Eve E; Shirts, Brian H BH; Stein, Lincoln D LD; Teney, Cherie D CD; Timms, Lee L; Um, Caroline Y CY; Van Guelpen, Bethany B; Van Tassel, Megan M; Wang, Xiaolong X; Wheeler, David A DA; Yung, Christina K CK; Hsu, Li L; Ogino, Shuji S; Gsur, Andrea A; Newcomb, Polly A PA; Gallinger, Steven S; Hoffmeister, Michael M; Campbell, Peter T PT; Thibodeau, Stephen N SN; Sun, Wei W; Hudson, Thomas J TJ; Peters, Ulrike U

Publication Date: 2020-07-20

Variant appearance in text: SCN5A: R814W

PubMed Link: 32686686

Variant Present in the following documents:

• 41467_2020_17386_MOESM4_ESM.xlsx, sheet 1

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: R814W

PubMed Link: 32389048

Variant Present in the following documents:

• Main text
• JAH3-9-e016322.pdf

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: 2440C>T; R814W

PubMed Link: 31983221

Variant Present in the following documents:

• cir-141-387-s002.xlsx, sheet 5

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: SCN5A: 2440C>T; R814W

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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Role of the voltage sensor module in Nav domain IV on fast inactivation in sodium channelopathies: The implication of closed-state inactivation.

Channels (Austin, Tex.)

Nakajima, Tadashi T; Kaneko, Yoshiaki Y; Dharmawan, Tommy T; Kurabayashi, Masahiko M

Publication Date: 2019-12

Variant appearance in text: SCN5A: R814W

PubMed Link: 31357904

Variant Present in the following documents:

• Main text

View BVdb publication page

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Cardiac Sodium Channel Dysfunction and Dilated Cardiomyopathy: A Contemporary Reappraisal of Pathophysiological Concepts.

Journal Of Clinical Medicine

Asatryan, Babken B

Publication Date: 2019-07-12

Variant appearance in text: SCN5A: R814W

PubMed Link: 31336969

Variant Present in the following documents:

• Main text
• jcm-08-01029.pdf

View BVdb publication page

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SCN5A variant R222Q generated abnormal changes in cardiac sodium current and action potentials in murine myocytes and Purkinje cells.

Heart Rhythm

Daniel, Laura L LL; Yang, Tao T; Kroncke, Brett B; Hall, Lynn L; Stroud, Dina D; Roden, Dan M DM

Publication Date: 2019-11

Variant appearance in text: SCN5A: R814W

PubMed Link: 31125670

Variant Present in the following documents:

• Main text

View BVdb publication page

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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: SCN5A: R814W

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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SCN5A Variants: Association With Cardiac Disorders.

Frontiers In Physiology

Li, Wenjia W; Yin, Lei L; Shen, Cheng C; Hu, Kai K; Ge, Junbo J; Sun, Aijun A

Publication Date: 2018

Variant appearance in text: SCN5A: R814W

PubMed Link: 30364184

Variant Present in the following documents:

• Main text

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: R814W

PubMed Link: 30356750

Variant Present in the following documents:

• Main text

View BVdb publication page

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A leaky voltage sensor domain of cardiac sodium channels causes arrhythmias associated with dilated cardiomyopathy.

Scientific Reports

Moreau, Adrien A; Gosselin-Badaroudine, Pascal P; Mercier, Aurélie A; Burger, Bettina B; Keller, Dagmar I DI; Chahine, Mohamed M

Publication Date: 2018-09-14

Variant appearance in text: SCN5A: R814W

PubMed Link: 30218094

Variant Present in the following documents:

• Main text

View BVdb publication page

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Predicting changes to INa from missense mutations in human SCN5A.

Scientific Reports

Clerx, Michael M; Heijman, Jordi J; Collins, Pieter P; Volders, Paul G A PGA

Publication Date: 2018-08-24

Variant appearance in text: SCN5A: R814W

PubMed Link: 30143662

Variant Present in the following documents:

• 41598_2018_30577_MOESM1_ESM.pdf

View BVdb publication page

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Genetic basis of cardiomyopathy and the genotypes involved in prognosis and left ventricular reverse remodeling.

Scientific Reports

Tobita, Takashige T; Nomura, Seitaro S; Fujita, Takanori T; Morita, Hiroyuki H; Asano, Yoshihiro Y; Onoue, Kenji K; Ito, Masamichi M; Imai, Yasushi Y; Suzuki, Atsushi A; Ko, Toshiyuki T; Satoh, Masahiro M; Fujita, Kanna K; Naito, Atsuhiko T AT; Furutani, Yoshiyuki Y; Toko, Haruhiro H; Harada, Mutsuo M; Amiya, Eisuke E; Hatano, Masaru M; Takimoto, Eiki E; Shiga, Tsuyoshi T; Nakanishi, Toshio T; Sakata, Yasushi Y; Ono, Minoru M; Saito, Yoshihiko Y; Takashima, Seiji S; Hagiwara, Nobuhisa N; Aburatani, Hiroyuki H; Komuro, Issei I

Publication Date: 2018-01-31

Variant appearance in text: SCN5A: 2440C>T; R814W

PubMed Link: 29386531

Variant Present in the following documents:

• 41598_2018_20114_MOESM1_ESM.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: SCN5A: 2440C>T; Arg814Trp

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Sodium channel biophysics, late sodium current and genetic arrhythmic syndromes.

Pflugers Archiv : European Journal Of Physiology

Chadda, Karan R KR; Jeevaratnam, Kamalan K; Lei, Ming M; Huang, Christopher L-H CL

Publication Date: 2017-06

Variant appearance in text: SCN5A: R814W

PubMed Link: 28265756

Variant Present in the following documents:

• Main text
• 424_2017_Article_1959.pdf

View BVdb publication page

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Mutations in the Voltage Sensors of Domains I and II of Nav1.5 that are Associated with Arrhythmias and Dilated Cardiomyopathy Generate Gating Pore Currents.

Frontiers In Pharmacology

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

Publication Date: 2015

Variant appearance in text: Nav1.5: R814W

PubMed Link: 26733869

Variant Present in the following documents:

• Main text
• fphar-06-00301.pdf

View BVdb publication page

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Cellular hyper-excitability caused by mutations that alter the activation process of voltage-gated sodium channels.

Frontiers In Physiology

Amarouch, Mohamed-Yassine MY; Abriel, Hugues H

Publication Date: 2015

Variant appearance in text: SCN5A: R814W

PubMed Link: 25741286

Variant Present in the following documents:

• Main text
• fphys-06-00045.pdf

View BVdb publication page

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Targeted analysis of whole genome sequence data to diagnose genetic cardiomyopathy.

Circulation. Cardiovascular Genetics

Golbus, Jessica R JR; Puckelwartz, Megan J MJ; Dellefave-Castillo, Lisa L; Fahrenbach, John P JP; Nelakuditi, Viswateja V; Pesce, Lorenzo L LL; Pytel, Peter P; McNally, Elizabeth M EM

Publication Date: 2014-12

Variant appearance in text: SCN5A: R814W

PubMed Link: 25179549

Variant Present in the following documents:

• Main text

View BVdb publication page

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Novel SCN5A mutation in amiodarone-responsive multifocal ventricular ectopy-associated cardiomyopathy.

Heart Rhythm

Beckermann, Thomas M TM; McLeod, Karen K; Murday, Victoria V; Potet, Franck F; George, Alfred L AL

Publication Date: 2014-08

Variant appearance in text: SCN5A: R814W

PubMed Link: 24815523

Variant Present in the following documents:

• Main text

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: R814W

PubMed Link: 24772081

Variant Present in the following documents:

• Main text
• fphar-05-00053.pdf

View BVdb publication page

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A proton leak current through the cardiac sodium channel is linked to mixed arrhythmia and the dilated cardiomyopathy phenotype.

Plos One

Gosselin-Badaroudine, Pascal P; Keller, Dagmar I DI; Huang, Hai H; Pouliot, Valérie V; Chatelier, Aurélien A; Osswald, Stefan S; Brink, Marijke M; Chahine, Mohamed M

Publication Date: 2012

Variant appearance in text: SCN5A: R814W

PubMed Link: 22675453

Variant Present in the following documents:

• Main text
• pone.0038331.pdf

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: R814W

PubMed Link: 21167004

Variant Present in the following documents:

• Main text

View BVdb publication page

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LQTS mutation N1325S in cardiac sodium channel gene SCN5A causes cardiomyocyte apoptosis, cardiac fibrosis and contractile dysfunction in mice.

International Journal Of Cardiology

Zhang, Teng T; Yong, Sandro L SL; Drinko, Jeanne K JK; Popović, Zoran B ZB; Shryock, John C JC; Belardinelli, Luiz L; Wang, Qing Kenneth QK

Publication Date: 2011-03-03

Variant appearance in text: SCN5A: R814W

PubMed Link: 19762097

Variant Present in the following documents:

• Main text

View BVdb publication page

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Sodium channel mutations and susceptibility to heart failure and atrial fibrillation.

Jama

Olson, Timothy M TM; Michels, Virginia V VV; Ballew, Jeffrey D JD; Reyna, Sandra P SP; Karst, Margaret L ML; Herron, Kathleen J KJ; Horton, Steven C SC; Rodeheffer, Richard J RJ; Anderson, Jeffrey L JL

Publication Date: 2005-01-26

Variant appearance in text: SCN5A: R814W

PubMed Link: 15671429

Variant Present in the following documents:

• Main text

View BVdb publication page

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