Publications:

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Exome sequencing in fetuses with short long bones detected by ultrasonography: A retrospective cohort study.

Frontiers In Genetics

Huang, Yanlin Y; Liu, Chang C; Ding, Hongke H; Wang, Yunan Y; Yu, Lihua L; Guo, Fangfang F; Li, Fake F; Shi, Xiaomei X; Zhang, Yan Y; Yin, Aihua A

Publication Date: 2023

Variant appearance in text: SCN5A: 2893C>T; Arg965Cys

PubMed Link: 36923788

Variant Present in the following documents:

• Table3.xlsx, sheet 1

View BVdb publication page

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Brugada syndrome in Thailand: Three decades of progress.

Heart Rhythm O2

Veerakul, Gumpanart G; Khongphatthanayothin, Apichai A; Nademanee, Koonlawee K

Publication Date: 2022-12

Variant appearance in text: SCN5A: R965C

PubMed Link: 36589009

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Whole exome sequencing in Brugada and long QT syndromes revealed novel rare and potential pathogenic mutations related to the dysfunction of the cardiac sodium channel.

Orphanet Journal Of Rare Diseases

Chen, Jia J; Li, Hong H; Guo, Sicheng S; Yang, Zhe Z; Sun, Shaoping S; Zeng, JunJie J; Gou, Hongjuan H; Chen, Yechang Y; Wang, Feng F; Lin, Yanping Y; Huang, Kun K; Yue, Hong H; Ma, Yuting Y; Lin, Yubi Y

Publication Date: 2022-10-27

Variant appearance in text: SCN5A: R965C; rs199473180

PubMed Link: 36303204

Variant Present in the following documents:

• Main text
• 13023_2022_Article_2542.pdf

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: 2893C>T; Arg965Cys

PubMed Link: 35947370

Variant Present in the following documents:

• jamacardiol-e222455-s002.xlsx, sheet 1

View BVdb publication page

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1029 genomes of self-declared healthy individuals from India reveal prevalent and clinically relevant cardiac ion channelopathy variants.

Human Genomics

Bajaj, Anjali A; Senthivel, Vigneshwar V; Bhoyar, Rahul R; Jain, Abhinav A; Imran, Mohamed M; Rophina, Mercy M; Divakar, Mohit Kumar MK; Jolly, Bani B; Verma, Ankit A; Mishra, Anushree A; Sharma, Disha D; Deepti, Siddharthan S; Sharma, Gautam G; Bansal, Raghav R; Yadav, Rakesh R; Scaria, Vinod V; Naik, Nitish N; Sivasubbu, Sridhar S

Publication Date: 2022-08-05

Variant appearance in text: SCN5A: 2893C>T; R965C; rs199473180

PubMed Link: 35932045

Variant Present in the following documents:

• 40246_2022_402_MOESM5_ESM.xlsx, sheet 1

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: R965C

PubMed Link: 35037686

Variant Present in the following documents:

• awac006_Supplementary_Data.pdf

View BVdb publication page

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Inherited and Acquired Rhythm Disturbances in Sick Sinus Syndrome, Brugada Syndrome, and Atrial Fibrillation: Lessons from Preclinical Modeling.

Cells

Iop, Laura L; Iliceto, Sabino S; Civieri, Giovanni G; Tona, Francesco F

Publication Date: 2021-11-15

Variant appearance in text: SCN5A: R965C

PubMed Link: 34831398

Variant Present in the following documents:

• cells-10-03175.pdf

View BVdb publication page

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Rare Coding Variants Associated With Electrocardiographic Intervals Identify Monogenic Arrhythmia Susceptibility Genes: A Multi-Ancestry Analysis.

Circulation. Genomic And Precision Medicine

Choi, Seung Hoan SH; Jurgens, Sean J SJ; Haggerty, Christopher M CM; Hall, Amelia W AW; Halford, Jennifer L JL; Morrill, Valerie N VN; Weng, Lu-Chen LC; Lagerman, Braxton B; Mirshahi, Tooraj T; Pettinger, Mary M; Guo, Xiuqing X; Lin, Henry J HJ; Alonso, Alvaro A; Soliman, Elsayed Z EZ; Kornej, Jelena J; Lin, Honghuang H; Moscati, Arden A; Nadkarni, Girish N GN; Brody, Jennifer A JA; Wiggins, Kerri L KL; Cade, Brian E BE; Lee, Jiwon J; Austin-Tse, Christina C; Blackwell, Tom T; Chaffin, Mark D MD; Lee, Christina J-Y CJ; Rehm, Heidi L HL; Roselli, Carolina C; , ; Redline, Susan S; Mitchell, Braxton D BD; Sotoodehnia, Nona N; Psaty, Bruce M BM; Heckbert, Susan R SR; Loos, Ruth J F RJF; Vasan, Ramachandran S RS; Benjamin, Emelia J EJ; Correa, Adolfo A; Boerwinkle, Eric E; Arking, Dan E DE; Rotter, Jerome I JI; Rich, Stephen S SS; Whitsel, Eric A EA; Perez, Marco M; Kooperberg, Charles C; Fornwalt, Brandon K BK; Lunetta, Kathryn L KL; Ellinor, Patrick T PT; Lubitz, Steven A SA; ,

Publication Date: 2021-08

Variant appearance in text: SCN5A: 2893C>T

PubMed Link: 34319147

Variant Present in the following documents:

• hcg-14-e003300-s001.pdf

View BVdb publication page

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Identification of rare heterozygous linkage R965C-R1309H mutations in the pore-forming region of SCN5A gene associated with complex arrhythmia.

Molecular Genetics & Genomic Medicine

Lin, Yubi Y; Qin, Jiading J; Shen, Yuhui Y; Huang, Jiana J; Zhang, Zuoquan Z; Zhu, ZhiLing Z; Lu, Huifang H; Huang, Yin Y; Yin, Yuelan Y; Wang, Ani A; Jin, Lizi L; Hu, Zhenyu Z; Lin, Xiufang X; Jiang, Bin B

Publication Date: 2021-05

Variant appearance in text: SCN5A: 2893C>T; rs199473180

PubMed Link: 33764691

Variant Present in the following documents:

• Main text
• MGG3-9-e1613.pdf

View BVdb publication page

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Territory-wide cohort study of Brugada syndrome in Hong Kong: predictors of long-term outcomes using random survival forests and non-negative matrix factorisation.

Open Heart

Lee, Sharen S; Zhou, Jiandong J; Li, Ka Hou Christien KHC; Leung, Keith Sai Kit KSK; Lakhani, Ishan I; Liu, Tong T; Wong, Ian Chi Kei ICK; Mok, Ngai Shing NS; Mak, Chloe C; Jeevaratnam, Kamalan K; Zhang, Qingpeng Q; Tse, Gary G

Publication Date: 2021-02

Variant appearance in text: SCN5A: 2893C>T; R965C

PubMed Link: 33547222

Variant Present in the following documents:

• openhrt-2020-001505supp001.pdf

View BVdb publication page

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Identification of Novel SCN5A Single Nucleotide Variants in Brugada Syndrome: A Territory-Wide Study From Hong Kong.

Frontiers In Physiology

Tse, Gary G; Lee, Sharen S; Liu, Tong T; Yuen, Ho Chuen HC; Wong, Ian Chi Kei ICK; Mak, Chloe C; Mok, Ngai Shing NS; Wong, Wing Tak WT

Publication Date: 2020

Variant appearance in text: SCN5A: 2893C>T; R965C

PubMed Link: 33071830

Variant Present in the following documents:

• Main text
• fphys-11-574590.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: R965C

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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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: 2893C>T; Arg965Cys; rs199473180

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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Reanalysis and reclassification of rare genetic variants associated with inherited arrhythmogenic syndromes.

Ebiomedicine

Campuzano, Oscar O; Sarquella-Brugada, Georgia G; Fernandez-Falgueras, Anna A; Coll, Mónica M; Iglesias, Anna A; Ferrer-Costa, Carles C; Cesar, Sergi S; Arbelo, Elena E; García-Álvarez, Ana A; Jordà, Paloma P; Toro, Rocío R; Tiron de Llano, Coloma C; Grassi, Simone S; Oliva, Antonio A; Brugada, Josep J; Brugada, Ramon R

Publication Date: 2020-04

Variant appearance in text: SCN5A: 2893C>T; Arg965Cys; rs199473180

PubMed Link: 32268277

Variant Present in the following documents:

• Main text
• main.pdf

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: 2893C>T; R965C

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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Germline susceptibility variants impact clinical outcome and therapeutic strategies for stage III colorectal cancer.

Scientific Reports

Lin, Peng-Chan PC; Yeh, Yu-Min YM; Wu, Pei-Ying PY; Hsu, Keng-Fu KF; Chang, Jang-Yang JY; Shen, Meng-Ru MR

Publication Date: 2019-03-08

Variant appearance in text: SCN5A: 2893C>T; Arg965Cys

PubMed Link: 30850667

Variant Present in the following documents:

• 41598_2019_40571_MOESM2_ESM.xlsx, sheet 1

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: 2893C>T; Arg965Cys; rs199473180

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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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: R965C

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Impact of Ancestral Differences and Reassessment of the Classification of Previously Reported Pathogenic Variants in Patients With Brugada Syndrome in the Genomic Era: A SADS-TW BrS Registry.

Frontiers In Genetics

Chen, Ching-Yu Julius CJ; Lu, Tzu-Pin TP; Lin, Lian-Yu LY; Liu, Yen-Bin YB; Ho, Li-Ting LT; Huang, Hui-Chun HC; Lai, Ling-Ping LP; Hwang, Juey-Jen JJ; Yeh, Shih-Fan Sherri SS; Wu, Cho-Kai CK; Juang, Jyh-Ming Jimmy JJ; Antzelevitch, Charles C

Publication Date: 2018

Variant appearance in text: SCN5A: 2893C>T; R965C

PubMed Link: 30662450

Variant Present in the following documents:

• Main text
• fgene-09-00680.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: LQT3: 2893C>T

PubMed Link: 30364184

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: R965C

PubMed Link: 30143662

Variant Present in the following documents:

• 41598_2018_30577_MOESM1_ESM.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: rs199473180

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: 2893C>T; Arg965Cys

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: R965C

PubMed Link: 28150151

Variant Present in the following documents:

• Main text
• 13238_2017_Article_372.pdf

View BVdb publication page

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The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Genome Medicine

Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM

Publication Date: 2016-07-26

Variant appearance in text: SCN5A: 2893C>T; R965C

PubMed Link: 27460824

Variant Present in the following documents:

• 13073_2016_333_MOESM5_ESM.xlsx, sheet 1

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: LQT3: R965C

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: SCN5A: R965C

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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The UK10K project identifies rare variants in health and disease.

Nature

, ; Walter, Klaudia K; Min, Josine L JL; Huang, Jie J; Crooks, Lucy L; Memari, Yasin Y; McCarthy, Shane S; Perry, John R B JR; Xu, ChangJiang C; Futema, Marta M; Lawson, Daniel D; Iotchkova, Valentina V; Schiffels, Stephan S; Hendricks, Audrey E AE; Danecek, Petr P; Li, Rui R; Floyd, James J; Wain, Louise V LV; Barroso, Inês I; Humphries, Steve E SE; Hurles, Matthew E ME; Zeggini, Eleftheria E; Barrett, Jeffrey C JC; Plagnol, Vincent V; Richards, J Brent JB; Greenwood, Celia M T CM; Timpson, Nicholas J NJ; Durbin, Richard R; Soranzo, Nicole N

Publication Date: 2015-10-01

Variant appearance in text: SCN5A: R965C; rs199473180

PubMed Link: 26367797

Variant Present in the following documents:

• 41586_2015_BFnature14962_MOESM15_ESM.xlsx, sheet 16

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: R965C

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 Classification of Brugada Syndrome-Associated and Long-QT Syndrome-Associated Genetic Variants in the SCN5A-Encoded Na(v)1.5 Cardiac Sodium Channel.

Circulation. Cardiovascular Genetics

Kapplinger, Jamie D JD; Giudicessi, John R JR; Ye, Dan D; Tester, David J DJ; Callis, Thomas E TE; Valdivia, Carmen R CR; Makielski, Jonathan C JC; Wilde, Arthur A AA; Ackerman, Michael J MJ

Publication Date: 2015-08

Variant appearance in text: SCN5A: R965C

PubMed Link: 25904541

Variant Present in the following documents:

• Main text

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: SCN5A: 2893C>T

PubMed Link: 25649125

Variant Present in the following documents:

• 13073_2014_120_MOESM1_ESM.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: 2893C>T

PubMed Link: 23321620

Variant Present in the following documents:

• Main text

View BVdb publication page

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Distinct functional defect of three novel Brugada syndrome related cardiac sodium channel mutations.

Journal Of Biomedical Science

Hsueh, Chia-Hsiang CH; Chen, Wen-Pin WP; Lin, Jiunn-Lee JL; Tsai, Chia-Ti CT; Liu, Yen-Bin YB; Juang, Jyh-Ming JM; Tsao, Hsuan-Ming HM; Su, Ming-Jai MJ; Lai, Ling-Ping LP

Publication Date: 2009-02-20

Variant appearance in text: SCN5A: 2893C>T

PubMed Link: 19272188

Variant Present in the following documents:

• Main text
• 1423-0127-16-23.pdf

View BVdb publication page

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