Publications:

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Determining the Likelihood of Disease Pathogenicity Among Incidentally Identified Genetic Variants in Rare Dilated Cardiomyopathy-Associated Genes.

Journal Of The American Heart Association

Yang, Qixin Q; Berkman, Amy M AM; Ezekian, Jordan E JE; Rosamilia, Michael M; Rosenfeld, Jill A JA; Liu, Pengfei P; Landstrom, Andrew P AP

Publication Date: 2022-10-04

Variant appearance in text: SCN5A: 80G>A; R27H

PubMed Link: 36129056

Variant Present in the following documents:

• JAH3-11-e025257-s001.pdf
• JAH3-11-e025257.pdf

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: R27H

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: Arg27His

PubMed Link: 32893267

Variant Present in the following documents:

• 41436_2020_946_MOESM2_ESM.xlsx, sheet 13

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: 80G>A; Arg27His; rs199473045

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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Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association

Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H

Publication Date: 2020-07

Variant appearance in text: SCN5A: R27H

PubMed Link: 32107691

Variant Present in the following documents:

• 10120_2020_1045_MOESM1_ESM.xlsx, sheet 2

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: 80G>A; R27H

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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Is variant pathogenicity in the eye of the beholder? A case of unexplained sudden cardiac arrest highlights the potentially dangerous role of historical rare variant compendia in SCN5A rare variant adjudication.

Heartrhythm Case Reports

Stutzman, Marissa J MJ; Ye, Dan D; Tester, David J DJ; Giudicessi, John R JR; Ackerman, Michael J MJ

Publication Date: 2019-03

Variant appearance in text: SCN5A: Arg27His

PubMed Link: 30891416

Variant Present in the following documents:

• Main text
• main.pdf

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: R27H; rs199473045

PubMed Link: 30662450

Variant Present in the following documents:

• Main text
• fgene-09-00680.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: rs199473045

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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Detecting protein variants by mass spectrometry: a comprehensive study in cancer cell-lines.

Genome Medicine

Alfaro, Javier A JA; Ignatchenko, Alexandr A; Ignatchenko, Vladimir V; Sinha, Ankit A; Boutros, Paul C PC; Kislinger, Thomas T

Publication Date: 2017-07-18

Variant appearance in text: SCN5A: R27H

PubMed Link: 28716134

Variant Present in the following documents:

• 13073_2017_454_MOESM7_ESM.xlsx, sheet 1

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: 80G>A; Arg27His

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: R27H

PubMed Link: 28150151

Variant Present in the following documents:

• Main text

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: 80G>A

PubMed Link: 28018021

Variant Present in the following documents:

• Main text
• DM2016-3684965.pdf

View BVdb publication page

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Postmortem genetic screening for the identification, verification, and reporting of genetic variants contributing to the sudden death of the young.

Genome Research

Methner, D Nicole R DN; Scherer, Steven E SE; Welch, Katherine K; Walkiewicz, Magdalena M; Eng, Christine M CM; Belmont, John W JW; Powell, Mark C MC; Korchina, Viktoriya V; Doddapaneni, Harsha Vardhan HV; Muzny, Donna M DM; Gibbs, Richard A RA; Wolf, Dwayne A DA; Sanchez, Luis A LA; Kahn, Roger R

Publication Date: 2016-09

Variant appearance in text: SCN5A: R27H

PubMed Link: 27435932

Variant Present in the following documents:

• 1170.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: R27H

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: R27H

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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Screening for 392 polymorphisms in 141 pharmacogenes.

Biomedical Reports

Kim, Jason Yongha JY; Cheong, Hyun Sub HS; Park, Tae-Joon TJ; Shin, Hee Jung HJ; Seo, Doo Won DW; Na, Han Sung HS; Chung, Myeon Woo MW; Shin, Hyoung Doo HD

Publication Date: 2014-07

Variant appearance in text: SCN5A: Arg27His

PubMed Link: 24944790

Variant Present in the following documents:

• Main text

View BVdb publication page

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Characterization of N-terminally mutated cardiac Na(+) channels associated with long QT syndrome 3 and Brugada syndrome.

Frontiers In Physiology

Gütter, Christian C; Benndorf, Klaus K; Zimmer, Thomas T

Publication Date: 2013

Variant appearance in text: LQT3: R27H

PubMed Link: 23805106

Variant Present in the following documents:

• Main text
• fphys-04-00153.pdf

View BVdb publication page

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Spectrum and prevalence of mutations involving BrS1- through BrS12-susceptibility genes in a cohort of unrelated patients referred for Brugada syndrome genetic testing: implications for genetic testing.

Journal Of The American College Of Cardiology

Crotti, Lia L; Marcou, Cherisse A CA; Tester, David J DJ; Castelletti, Silvia S; Giudicessi, John R JR; Torchio, Margherita M; Medeiros-Domingo, Argelia A; Simone, Savastano S; Will, Melissa L ML; Dagradi, Federica F; Schwartz, Peter J PJ; Ackerman, Michael J MJ

Publication Date: 2012-10-09

Variant appearance in text: SCN5A: R27H

PubMed Link: 22840528

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic analysis of Brugada syndrome and congenital long-QT syndrome type 3 in the Chinese.

Journal Of Cardiovascular Disease Research

Liang, Peng P; Liu, Wenling W; Li, Cuilan C; Tao, Wuhua W; Li, Lei L; Hu, Dayi D

Publication Date: 2010-04

Variant appearance in text: SCN5A: R27H

PubMed Link: 20877689

Variant Present in the following documents:

• Main text
• JCDR-1-69.pdf

View BVdb publication page

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Unique mixed phenotype and unexpected functional effect revealed by novel compound heterozygosity mutations involving SCN5A.

Heart Rhythm

Medeiros-Domingo, Argelia A; Tan, Bi-Hua BH; Iturralde-Torres, Pedro P; Tester, David J DJ; Tusié-Luna, Teresa T; Makielski, Jonathan C JC; Ackerman, Michael J MJ

Publication Date: 2009-08

Variant appearance in text: SCN5A: R27H

PubMed Link: 19632629

Variant Present in the following documents:

• Main text

View BVdb publication page

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