Publications:

---

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: 2014G>A; A672T; rs199473140

PubMed Link: 35932045

Variant Present in the following documents:

• 40246_2022_402_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

---

Genetic evaluation of cardiomyopathies in Qatar identifies enrichment of pathogenic sarcomere gene variants and possible founder disease mutations in the Arabs.

Molecular Genetics & Genomic Medicine

Al-Shafai, Kholoud N KN; Al-Hashemi, Mohammed M; Manickam, Chidambaram C; Musa, Rania R; Selvaraj, Senthil S; Syed, Najeeb N; Vempalli, Fazulur F; Ali, Muneera M; Yacoub, Magdi M; Estivill, Xavier X

Publication Date: 2021-07

Variant appearance in text: SCN5A: 2014G>A; Ala672Thr

PubMed Link: 34137518

Variant Present in the following documents:

• MGG3-9-e1709-s001.xlsx, sheet 1
• MGG3-9-e1709-s003.xlsx, sheet 2

View BVdb publication page

---

Genetic evaluation of cardiomyopathies in Qatar identifies enrichment of pathogenic sarcomere gene variants and possible founder disease mutations in the Arabs.

Molecular Genetics & Genomic Medicine

Al-Shafai, Kholoud N KN; Al-Hashemi, Mohammed M; Manickam, Chidambaram C; Musa, Rania R; Selvaraj, Senthil S; Syed, Najeeb N; Vempalli, Fazulur F; Ali, Muneera M; Yacoub, Magdi M; Estivill, Xavier X

Publication Date: 2021-07

Variant appearance in text: SCN5A: 2014G>A; Ala672Thr

PubMed Link: 34137518

Variant Present in the following documents:

• MGG3-9-e1709-s001.xlsx, sheet 1
• MGG3-9-e1709-s003.xlsx, sheet 2

View BVdb publication page

---

Findings of a 1303 Korean whole-exome sequencing study.

Experimental & Molecular Medicine

Kwak, Soo Heon SH; Chae, Jeesoo J; Choi, Seongmin S; Kim, Min Jung MJ; Choi, Murim M; Chae, Jong-Hee JH; Cho, Eun-Hae EH; Hwang, Tai Ju TJ; Jang, Se Song SS; Kim, Jong-Il JI; Park, Kyong Soo KS; Bang, Yung-Jue YJ

Publication Date: 2017-07-14

Variant appearance in text: SCN5A: A672T; rs199473140

PubMed Link: 28706299

Variant Present in the following documents:

• emm2017142x4.xls, sheet 1

View BVdb publication page

---

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: 2014G>A; Ala672Thr

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

---

iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports

Wang, Meng M; Wei, Liping L

Publication Date: 2016-08-16

Variant appearance in text: SCN5A: A672T

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s3.xls, sheet 1

View BVdb publication page

---

Development of a Targeted Multi-Disorder High-Throughput Sequencing Assay for the Effective Identification of Disease-Causing Variants.

Plos One

Delio, Maria M; Patel, Kunjan K; Maslov, Alex A; Marion, Robert W RW; McDonald, Thomas V TV; Cadoff, Evan M EM; Golden, Aaron A; Greally, John M JM; Vijg, Jan J; Morrow, Bernice B; Montagna, Cristina C

Publication Date: 2015

Variant appearance in text: SCN5A: A672T; rs199473140

PubMed Link: 26214305

Variant Present in the following documents:

• Main text
• pone.0133742.s005.xlsx, sheet 1
• pone.0133742.pdf

View BVdb publication page

---