Publications:

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Clinical exome-based panel testing for medically actionable secondary findings in a cohort of 383 Italian participants.

Frontiers In Genetics

Martone, Stefania S; Buonagura, Autilia Tommasina AT; Marra, Roberta R; Rosato, Barbara Eleni BE; Del Giudice, Federica F; Bonfiglio, Ferdinando F; Capasso, Mario M; Iolascon, Achille A; Andolfo, Immacolata I; Russo, Roberta R

Publication Date: 2022

Variant appearance in text: SCN5A: R219H; rs878855296

PubMed Link: 36437915

Variant Present in the following documents:

• Table3.xlsx, sheet 1

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A TRPM7 mutation linked to familial trigeminal neuralgia: Omega current and hyperexcitability of trigeminal ganglion neurons.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Gualdani, Roberta R; Gailly, Philippe P; Yuan, Jun-Hui JH; Yerna, Xavier X; Di Stefano, Giulia G; Truini, Andrea A; Cruccu, Giorgio G; Dib-Hajj, Sulayman D SD; Waxman, Stephen G SG

Publication Date: 2022-09-20

Variant appearance in text: Nav1.5: R219H

PubMed Link: 36095216

Variant Present in the following documents:

• pnas.202119630.pdf

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Proton Quantum Tunneling: Influence and Relevance to Acidosis-Induced Cardiac Arrhythmias/Cardiac Arrest.

Pathophysiology : The Official Journal Of The International Society For Pathophysiology

Ababneh, Omar O; Qaswal, Abdallah Barjas AB; Alelaumi, Ahmad A; Khreesha, Lubna L; Almomani, Mujahed M; Khrais, Majdi M; Khrais, Oweiss O; Suleihat, Ahmad A; Mutleq, Shahed S; Al-Olaimat, Yazan Y; Nawafleh, Sager S

Publication Date: 2021-09-03

Variant appearance in text: Nav1.5: R219H

PubMed Link: 35366283

Variant Present in the following documents:

• Main text
• pathophysiology-28-00027.pdf

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Genetic associations of protein-coding variants in human disease.

Nature

Sun, Benjamin B BB; Kurki, Mitja I MI; Foley, Christopher N CN; Mechakra, Asma A; Chen, Chia-Yen CY; Marshall, Eric E; Wilk, Jemma B JB; , ; Chahine, Mohamed M; Chevalier, Philippe P; Christé, Georges G; , ; Palotie, Aarno A; Daly, Mark J MJ; Runz, Heiko H

Publication Date: 2022-03

Variant appearance in text: Nav1.5: Arg219His

PubMed Link: 35197637

Variant Present in the following documents:

• 41586_2022_4394_MOESM1_ESM.pdf

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Intersegment Contacts of Potentially Damaging Variants of Cardiac Sodium Channel.

Frontiers In Pharmacology

Korkosh, Vyacheslav S VS; Zaytseva, Anastasia K AK; Kostareva, Anna A AA; Zhorov, Boris S BS

Publication Date: 2021

Variant appearance in text: LQT3: R219H

PubMed Link: 34803699

Variant Present in the following documents:

• fphar-12-756415.pdf

View BVdb publication page

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Low neoantigen expression and poor T-cell priming underlie early immune escape in colorectal cancer.

Nature Cancer

Westcott, Peter M K PMK; Sacks, Nathan J NJ; Schenkel, Jason M JM; Ely, Zackery A ZA; Smith, Olivia O; Hauck, Haley H; Jaeger, Alex M AM; Zhang, Daniel D; Backlund, Coralie M CM; Beytagh, Mary C MC; Patten, J J JJ; Elbashir, Ryan R; Eng, George G; Irvine, Darrell J DJ; Yilmaz, Omer H OH; Jacks, Tyler T

Publication Date: 2021-10

Variant appearance in text: SCN5A: 656G>A; Arg219Gln

PubMed Link: 34738089

Variant Present in the following documents:

• NIHMS1725490-supplement-Source_Data_Figure_1.xlsx, sheet 1

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: R219H

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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Heritable arrhythmia syndromes associated with abnormal cardiac sodium channel function: ionic and non-ionic mechanisms.

Cardiovascular Research

Rivaud, Mathilde R MR; Delmar, Mario M; Remme, Carol Ann CA

Publication Date: 2020-07-15

Variant appearance in text: SCN5A: R219H

PubMed Link: 32251506

Variant Present in the following documents:

• Main text
• cvaa082.pdf

View BVdb publication page

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Variant Interpretation for Dilated Cardiomyopathy: Refinement of the American College of Medical Genetics and Genomics/ClinGen Guidelines for the DCM Precision Medicine Study.

Circulation. Genomic And Precision Medicine

Morales, Ana A; Kinnamon, Daniel D DD; Jordan, Elizabeth E; Platt, Julia J; Vatta, Matteo M; Dorschner, Michael O MO; Starkey, Carl A CA; Mead, Jonathan O JO; Ai, Tomohiko T; Burke, Wylie W; Gastier-Foster, Julie J; Jarvik, Gail P GP; Rehm, Heidi L HL; Nickerson, Deborah A DA; Hershberger, Ray E RE; , ; ,

Publication Date: 2020-04

Variant appearance in text: SCN5A: Arg219His

PubMed Link: 32160020

Variant Present in the following documents:

• Main text

View BVdb publication page

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Human Induced Pluripotent Stem-Cell-Derived Cardiomyocytes as Models for Genetic Cardiomyopathies.

International Journal Of Molecular Sciences

Brodehl, Andreas A; Ebbinghaus, Hans H; Deutsch, Marcus-André MA; Gummert, Jan J; Gärtner, Anna A; Ratnavadivel, Sandra S; Milting, Hendrik H

Publication Date: 2019-09-06

Variant appearance in text: SCN5A: R219H

PubMed Link: 31489928

Variant Present in the following documents:

• ijms-20-04381.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: SCN5A: 656G>A; R219H

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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Beyond the One Gene-One Disease Paradigm: Complex Genetics and Pleiotropy in Inheritable Cardiac Disorders

Circulation

Cerrone, Marina M; Remme, Carol Ann CA; Tadros, Rafik R; Bezzina, Connie R CR; Delmar, Mario M

Publication Date: 2019-08-13

Variant appearance in text: SCN5A: R219H

PubMed Link: 31403841

Variant Present in the following documents:

• Main text

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: R219H

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: R219H

PubMed Link: 31336969

Variant Present in the following documents:

• Main text
• jcm-08-01029.pdf

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: R219H

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: SCN5A: R219H

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: Nav1.5: R219H

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: R219H

PubMed Link: 30143662

Variant Present in the following documents:

• 41598_2018_30577_MOESM1_ESM.pdf

View BVdb publication page

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The landscape of somatic mutation in sporadic Chinese colorectal cancer.

Oncotarget

Liu, Zhe Z; Yang, Chao C; Li, Xiangchun X; Luo, Wen W; Roy, Bhaskar B; Xiong, Teng T; Zhang, Xiuqing X; Yang, Huanming H; Wang, Jian J; Ye, Zhenhao Z; Chen, Yang Y; Song, Jinghe J; Ma, Shuai S; Zhou, Yong Y; Yang, Min M; Fang, Xiaodong X; Du, Jie J

Publication Date: 2018-06-08

Variant appearance in text: SCN5A: 656G>A; R219Q

PubMed Link: 29937994

Variant Present in the following documents:

• oncotarget-09-27412-s004.xlsx, sheet 1

View BVdb publication page

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Beyond the Electrocardiogram: Mutations in Cardiac Ion Channel Genes Underlie Nonarrhythmic Phenotypes.

Clinical Medicine Insights. Cardiology

Roston, Thomas M TM; Cunningham, Taylor T; Lehman, Anna A; Laksman, Zachary W ZW; Krahn, Andrew D AD; Sanatani, Shubhayan S

Publication Date: 2017

Variant appearance in text: SCN5A: R219H

PubMed Link: 28469493

Variant Present in the following documents:

• Main text
• f_SupplementaryMaterial_698134_8633.pdf
• 10.1177_1179546817698134.pdf

View BVdb publication page

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Exome Sequencing Identifies Compound Heterozygous Mutations in SCN5A Associated with Congenital Complete Heart Block in the Thai Population.

Disease Markers

Thongnak, Chuphong C; Limprasert, Pornprot P; Tangviriyapaiboon, Duangkamol D; Silvilairat, Suchaya S; Puangpetch, Apichaya A; Pasomsub, Ekawat E; Sukasem, Chonlaphat C; Chantratita, Wasun W

Publication Date: 2016

Variant appearance in text: SCN5A: R219H

PubMed Link: 28018021

Variant Present in the following documents:

• Main text
• DM2016-3684965.pdf

View BVdb publication page

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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: SCN5A: 656G>A; R219Q

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

View BVdb publication page

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A novel NaV1.5 voltage sensor mutation associated with severe atrial and ventricular arrhythmias.

Journal Of Molecular And Cellular Cardiology

Wang, Hong-Gang HG; Zhu, Wandi W; Kanter, Ronald J RJ; Silva, Jonathan R JR; Honeywell, Christina C; Gow, Robert M RM; Pitt, Geoffrey S GS

Publication Date: 2016-03

Variant appearance in text: SCN5A: R219H

PubMed Link: 26801742

Variant Present in the following documents:

• Main text

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: SCN5A: R219H

PubMed Link: 26733869

Variant Present in the following documents:

• Main text
• fphar-06-00301.pdf

View BVdb publication page

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The cardiac sodium channel gene SCN5A and its gene product NaV1.5: Role in physiology and pathophysiology.

Gene

Veerman, Christiaan C CC; Wilde, Arthur A M AA; Lodder, Elisabeth M EM

Publication Date: 2015-12-01

Variant appearance in text: LQT3: R219H

PubMed Link: 26361848

Variant Present in the following documents:

• Main text

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: R219H

PubMed Link: 25741286

Variant Present in the following documents:

• Main text
• fphys-06-00045.pdf

View BVdb publication page

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Gating pore currents are defects in common with two Nav1.5 mutations in patients with mixed arrhythmias and dilated cardiomyopathy.

The Journal Of General Physiology

Moreau, Adrien A; Gosselin-Badaroudine, Pascal P; Delemotte, Lucie L; Klein, Michael L ML; Chahine, Mohamed M

Publication Date: 2015-02

Variant appearance in text: Nav1.5: R219H

PubMed Link: 25624448

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: R219H

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: R219H

PubMed Link: 24772081

Variant Present in the following documents:

• Main text
• fphar-05-00053.pdf

View BVdb publication page

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Cardiac sodium channelopathy associated with SCN5A mutations: electrophysiological, molecular and genetic aspects.

The Journal Of Physiology

Remme, Carol Ann CA

Publication Date: 2013-09-01

Variant appearance in text: SCN5A: R219H

PubMed Link: 23818691

Variant Present in the following documents:

• Main text

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: Nav1.5: R219H

PubMed Link: 22675453

Variant Present in the following documents:

• Main text
• pone.0038331.pdf

View BVdb publication page

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