Publications:

Concealed Substrates in Brugada Syndrome: Isolated Channelopathy or Associated Cardiomyopathy?

Genes

Di Resta, Chiara C; Berg, Jan J; Villatore, Andrea A; Maia, Marianna M; Pili, Gianluca G; Fioravanti, Francesco F; Tomaiuolo, Rossella R; Sala, Simone S; Benedetti, Sara S; Peretto, Giovanni G

Publication Date: 2022-09-28

Variant appearance in text: rs7374540

PubMed Link: 36292641

Variant Present in the following documents:

• Main text
• genes-13-01755.pdf

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Genome-wide analyses identify SCN5A as a susceptibility locus for premature atrial contraction frequency.

Iscience

Thériault, Sébastien S; Imboden, Medea M; Biggs, Mary L ML; Austin, Thomas R TR; Aeschbacher, Stefanie S; Schaffner, Emmanuel E; Brody, Jennifer A JA; Bartz, Traci M TM; Risch, Martin M; Grossmann, Kirsten K; Lin, Henry J HJ; Soliman, Elsayed Z EZ; Post, Wendy S WS; Risch, Lorenz L; Krieger, Jose E JE; Pereira, Alexandre C AC; Heckbert, Susan R SR; Sotoodehnia, Nona N; Probst-Hensch, Nicole M NM; Conen, David D

Publication Date: 2022-10-21

Variant appearance in text: rs7374540

PubMed Link: 36267918

Variant Present in the following documents:

• Main text
• main.pdf
• mmc3.xlsx, sheet 1

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Complex interactions between p.His558Arg and linked variants in the sodium voltage-gated channel alpha subunit 5 (Na 1.5).

Peerj

Lopes-Marques, Monica M; Silva, Raquel R; Serrano, Catarina C; Gomes, Verónica V; Cardoso, Ana A; Prata, Maria João MJ; Amorim, Antonio A; Azevedo, Luisa L

Publication Date: 2022

Variant appearance in text: rs7374540

PubMed Link: 35996667

Variant Present in the following documents:

• Main text
• peerj-10-13913.pdf

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Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal

Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL

Publication Date: 2019-04

Variant appearance in text: rs7374540

PubMed Link: 30214008

Variant Present in the following documents:

• NIHMS1503453-supplement-3.xlsx, sheet 1

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A high-density association screen of 155 ion transport genes for involvement with common migraine.

Human Molecular Genetics

Nyholt, Dale R DR; LaForge, K Steven KS; Kallela, Mikko M; Alakurtti, Kirsi K; Anttila, Verneri V; Färkkilä, Markus M; Hämaläinen, Eija E; Kaprio, Jaakko J; Kaunisto, Mari A MA; Heath, Andrew C AC; Montgomery, Grant W GW; Göbel, Hartmut H; Todt, Unda U; Ferrari, Michel D MD; Launer, Lenore J LJ; Frants, Rune R RR; Terwindt, Gisela M GM; de Vries, Boukje B; Verschuren, W M Monique WM; Brand, Jan J; Freilinger, Tobias T; Pfaffenrath, Volker V; Straube, Andreas A; Ballinger, Dennis G DG; Zhan, Yiping Y; Daly, Mark J MJ; Cox, David R DR; Dichgans, Martin M; van den Maagdenberg, Arn M J M AM; Kubisch, Christian C; Martin, Nicholas G NG; Wessman, Maija M; Peltonen, Leena L; Palotie, Aarno A

Publication Date: 2008-11-01

Variant appearance in text: rs7374540

PubMed Link: 18676988

Variant Present in the following documents:

• Main text

View BVdb publication page