Publications:

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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: rs370694515

PubMed Link: 36303204

Variant Present in the following documents:

• Main text
• 13023_2022_Article_2542.pdf

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: rs370694515

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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Clinical and genetic spectrum of neonatal arrhythmia in a NICU.

Translational Pediatrics

Dai, Yi Y; Yin, Rong R; Yang, Lin L; Li, Zhi-Hua ZH

Publication Date: 2021-10

Variant appearance in text: SCN5A: 5690G>A; R1897Q

PubMed Link: 34765466

Variant Present in the following documents:

• tp-10-10-2432-supplementary.pdf

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Digenic heterozygous mutations of KCNH2 and SCN5A induced young and early-onset long QT syndrome and sinoatrial node dysfunction.

Annals Of Noninvasive Electrocardiology : The Official Journal Of The International Society For Holter And Noninvasive Electrocardiology, Inc

Yang, Zhe Z; Ma, Yuting Y; Huang, Jiana J; Xian, Jianzhong J; Huang, Yin Y; Wu, Linbo L; Zhu, WenLiang W; Wang, Feng F; Chen, Liang L; Lin, Xiufang X; Lin, Yubi Y

Publication Date: 2021-11-09

Variant appearance in text: rs370694515

PubMed Link: 34755423

Variant Present in the following documents:

• Main text
• ANEC-27-e12889.pdf

View BVdb publication page

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Digenic heterozygous mutations of KCNH2 and SCN5A induced young and early-onset long QT syndrome and sinoatrial node dysfunction.

Annals Of Noninvasive Electrocardiology : The Official Journal Of The International Society For Holter And Noninvasive Electrocardiology, Inc

Yang, Zhe Z; Ma, Yuting Y; Huang, Jiana J; Xian, Jianzhong J; Huang, Yin Y; Wu, Linbo L; Zhu, WenLiang W; Wang, Feng F; Chen, Liang L; Lin, Xiufang X; Lin, Yubi Y

Publication Date: 2022-01

Variant appearance in text: rs370694515

PubMed Link: 34755423

Variant Present in the following documents:

• Main text
• ANEC-27-e12889.pdf

View BVdb publication page

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Prevalence and properties of intragenic copy-number variation in Mendelian disease genes.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Truty, Rebecca R; Paul, Joshua J; Kennemer, Michael M; Lincoln, Stephen E SE; Olivares, Eric E; Nussbaum, Robert L RL; Aradhya, Swaroop S

Publication Date: 2019-01

Variant appearance in text: SCN5A: 5690G>A

PubMed Link: 29895855

Variant Present in the following documents:

• 41436_2018_33_MOESM4_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: 5690G>A; Arg1897His

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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Phenotype guided characterization and molecular analysis of Indian patients with long QT syndromes.

Indian Pacing And Electrophysiology Journal

Vyas, Bijal B; Puri, Ratna D RD; Namboodiri, Narayanan N; Saxena, Renu R; Nair, Mohan M; Balakrishnan, Prahlad P; Jayakrishnan, M P MP; Udyavar, Ameya A; Kishore, Ravi R; Verma, Ishwar C IC

Publication Date: 2016

Variant appearance in text: SCN5A: 5690G>A

PubMed Link: 27485560

Variant Present in the following documents:

• main.pdf

View BVdb publication page

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