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: 41G>T; R14L

PubMed Link: 35932045

Variant Present in the following documents:

• 40246_2022_402_MOESM7_ESM.xlsx, sheet 1
• 40246_2022_402_MOESM5_ESM.xlsx, sheet 1

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Genomic landscape of platinum resistant and sensitive testicular cancers.

Nature Communications

Loveday, Chey C; Litchfield, Kevin K; Proszek, Paula Z PZ; Cornish, Alex J AJ; Santo, Flavia F; Levy, Max M; Macintyre, Geoff G; Holryod, Amy A; Broderick, Peter P; Dudakia, Darshna D; Benton, Barbara B; Bakir, Maise Al MA; Hiley, Crispin C; Grist, Emily E; Swanton, Charles C; Huddart, Robert R; Powles, Tom T; Chowdhury, Simon S; Shipley, Janet J; O'Connor, Simon S; Brenton, James D JD; Reid, Alison A; de Castro, David Gonzalez DG; Houlston, Richard S RS; Turnbull, Clare C

Publication Date: 2020-05-04

Variant appearance in text: SCN5A: 41G>T; Arg14Leu

PubMed Link: 32366847

Variant Present in the following documents:

• 41467_2020_15768_MOESM5_ESM.xlsx, sheet 2

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Clinical Genetic Testing for the Cardiomyopathies and Arrhythmias: A Systematic Framework for Establishing Clinical Validity and Addressing Genotypic and Phenotypic Heterogeneity.

Frontiers In Cardiovascular Medicine

Garcia, John J; Tahiliani, Jackie J; Johnson, Nicole Marie NM; Aguilar, Sienna S; Beltran, Daniel D; Daly, Amy A; Decker, Emily E; Haverfield, Eden E; Herrera, Blanca B; Murillo, Laura L; Nykamp, Keith K; Topper, Scott S

Publication Date: 2016

Variant appearance in text: SCN5A: Arg14Leu

PubMed Link: 27446933

Variant Present in the following documents:

• Main text
• fcvm-03-00020.pdf

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