Publications:

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Predicting response to enzalutamide and abiraterone in metastatic prostate cancer using whole-omics machine learning.

Nature Communications

de Jong, Anouk C AC; Danyi, Alexandra A; van Riet, Job J; de Wit, Ronald R; Sjöström, Martin M; Feng, Felix F; de Ridder, Jeroen J; Lolkema, Martijn P MP

Publication Date: 2023-04-08

Variant appearance in text: SCN5A: R1023H; rs199473592

PubMed Link: 37031196

Variant Present in the following documents:

• 41467_2023_37647_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Genetic basis of sudden death after COVID-19 vaccination in Thailand.

Heart Rhythm

Ittiwut, Chupong C; Mahasirimongkol, Surakameth S; Srisont, Smith S; Ittiwut, Rungnapa R; Chockjamsai, Manoch M; Durongkadech, Piya P; Sawaengdee, Waritta W; Khunphon, Athiwat A; Larpadisorn, Kanidsorn K; Wattanapokayakit, Sukanya S; Wetchaphanphesat, Suppachok S; Arunotong, Surachet S; Srimahachota, Suphot S; Pittayawonganon, Chakrarat C; Thammawijaya, Panithee P; Sutdan, Derek D; Doungngern, Pawinee P; Khongphatthanayothin, Apichai A; Kerr, Stephen J SJ; Shotelersuk, Vorasuk V

Publication Date: 2022-08-05

Variant appearance in text: SCN5A: 3068G>A

PubMed Link: 35934244

Variant Present in the following documents:

• Main text

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: 3068G>A; R1023H; rs199473592

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: R1023H

PubMed Link: 35037686

Variant Present in the following documents:

• awac006_Supplementary_Data.pdf

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: 3068G>A; Arg1023His; rs199473592

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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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: 3068G>A; R1023H

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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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: R1023H; rs199473592

PubMed Link: 30662450

Variant Present in the following documents:

• Main text
• fgene-09-00680.pdf

View BVdb publication page

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Retrospective Genetic Analysis of 200 Cases of Sudden Infant Death Syndrome and Its Relationship with Long QT Syndrome in Korea.

Journal Of Korean Medical Science

Son, Min-Jeong MJ; Kim, Min-Kyoung MK; Yang, Kyung-Moo KM; Choi, Byung-Ha BH; Lee, Bong Woo BW; Yoo, Seong Ho SH

Publication Date: 2018-08-06

Variant appearance in text: SCN5A: R1023H

PubMed Link: 30079003

Variant Present in the following documents:

• Main text
• jkms-33-e200.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: 3068G>A; Arg1023His

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: R1023H

PubMed Link: 28150151

Variant Present in the following documents:

• Main text
• 13238_2017_Article_372.pdf

View BVdb publication page

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Clonal Evolutionary Analysis during HER2 Blockade in HER2-Positive Inflammatory Breast Cancer: A Phase II Open-Label Clinical Trial of Afatinib +/- Vinorelbine.

Plos Medicine

Goh, Gerald G; Schmid, Ramona R; Guiver, Kelly K; Arpornwirat, Wichit W; Chitapanarux, Imjai I; Ganju, Vinod V; Im, Seock-Ah SA; Kim, Sung-Bae SB; Dechaphunkul, Arunee A; Maneechavakajorn, Jedzada J; Spector, Neil N; Yau, Thomas T; Afrit, Mehdi M; Ahmed, Slim Ben SB; Johnston, Stephen R SR; Gibson, Neil N; Uttenreuther-Fischer, Martina M; Herrero, Javier J; Swanton, Charles C

Publication Date: 2016-12

Variant appearance in text: SCN5A: R1023H; rs199473592

PubMed Link: 27923043

Variant Present in the following documents:

• pmed.1002136.s018.xlsx, sheet 1

View BVdb publication page

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A Novel SCN5A Mutation Associated with Drug Induced Brugada Type ECG.

Plos One

Turker, Isik I; Makiyama, Takeru T; Vatta, Matteo M; Itoh, Hideki H; Ueyama, Takeshi T; Shimizu, Akihiko A; Ai, Tomohiko T; Horie, Minoru M

Publication Date: 2016

Variant appearance in text: SCN5A: R1023H

PubMed Link: 27560382

Variant Present in the following documents:

• Main text
• pone.0161872.pdf

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: R1023H

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: R1023H

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: R1023H

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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Brugada syndrome disease phenotype explained in apparently benign sodium channel mutations.

Circulation. Cardiovascular Genetics

Hoshi, Malcolm M; Du, Xi X XX; Shinlapawittayatorn, Krekwit K; Liu, Haiyan H; Chai, Sam S; Wan, Xiaoping X; Ficker, Eckhard E; Deschênes, Isabelle I

Publication Date: 2014-04

Variant appearance in text: SCN5A: R1023H

PubMed Link: 24573164

Variant Present in the following documents:

• Main text

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: 3068G>A

PubMed Link: 23321620

Variant Present in the following documents:

• Main text

View BVdb publication page

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