Publications:

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Prevalence and Disease Expression of Pathogenic and Likely Pathogenic Variants Associated With Inherited Cardiomyopathies in the General Population.

Circulation. Genomic And Precision Medicine

Bourfiss, Mimount M; van Vugt, Marion M; Alasiri, Abdulrahman I AI; Ruijsink, Bram B; Setten, Jessica van JV; Schmidt, Amand F AF; Dooijes, Dennis D; Puyol-Antón, Esther E; Velthuis, Birgitta K BK; Tintelen, J Peter van JPV; Te Riele, Anneline S J M ASJM; Baas, Annette F AF; Asselbergs, Folkert W FW

Publication Date: 2022-10-20

Variant appearance in text: SCN5A: Asp1274Asn; rs137854618

PubMed Link: 36264615

Variant Present in the following documents:

• hcg-15-e003704-s001.pdf

View BVdb publication page

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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: rs137854618

PubMed Link: 35996667

Variant Present in the following documents:

• Main text
• peerj-10-13913.pdf

View BVdb publication page

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Clinical Spectrum of SCN5A Channelopathy in Children with Primary Electrical Disease and Structurally Normal Hearts.

Genes

Villarreal-Molina, Teresa T; García-Ordóñez, Gabriela Paola GP; Reyes-Quintero, Álvaro E ÁE; Domínguez-Pérez, Mayra M; Jacobo-Albavera, Leonor L; Nava, Santiago S; Carnevale, Alessandra A; Medeiros-Domingo, Argelia A; Iturralde, Pedro P

Publication Date: 2021-12-22

Variant appearance in text: rs137854618

PubMed Link: 35052356

Variant Present in the following documents:

• Main text
• genes-13-00016.pdf

View BVdb publication page

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Clinical Spectrum of SCN5A Channelopathy in Children with Primary Electrical Disease and Structurally Normal Hearts.

Genes

Villarreal-Molina, Teresa T; García-Ordóñez, Gabriela Paola GP; Reyes-Quintero, Álvaro E ÁE; Domínguez-Pérez, Mayra M; Jacobo-Albavera, Leonor L; Nava, Santiago S; Carnevale, Alessandra A; Medeiros-Domingo, Argelia A; Iturralde, Pedro P

Publication Date: 2021-12-22

Variant appearance in text: rs137854618

PubMed Link: 35052356

Variant Present in the following documents:

• Main text
• genes-13-00016.pdf

View BVdb publication page

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Identification of Undetected Monogenic Cardiovascular Disorders.

Journal Of The American College Of Cardiology

Abdulrahim, Jawan W JW; Kwee, Lydia Coulter LC; Alenezi, Fawaz F; Sun, Albert Y AY; Baras, Aris A; Ajayi, Teminioluwa A TA; Henao, Ricardo R; Holley, Christopher L CL; McGarrah, Robert W RW; Daubert, James P JP; Truby, Lauren K LK; Vemulapalli, Sreekanth S; Wang, Andrew A; Khouri, Michel G MG; Shah, Svati H SH

Publication Date: 2020-08-18

Variant appearance in text: SCN5A: Asp1274Asn

PubMed Link: 32792077

Variant Present in the following documents:

• Main text

View BVdb publication page

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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: SCN5A: D1274N; rs137854618

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.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: 3820G>A; Asp1274Asn

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Does Sudden Unexplained Nocturnal Death Syndrome Remain the Autopsy-Negative Disorder: A Gross, Microscopic, and Molecular Autopsy Investigation in Southern China.

Mayo Clinic Proceedings

Zhang, Liyong L; Tester, David J DJ; Lang, Di D; Chen, Yili Y; Zheng, Jinxiang J; Gao, Rui R; Corliss, Robert F RF; Tang, Shuangbo S; Kyle, John W JW; Liu, Chao C; Ackerman, Michael J MJ; Makielski, Jonathan C JC; Cheng, Jianding J

Publication Date: 2016-11

Variant appearance in text: rs137854618

PubMed Link: 27707468

Variant Present in the following documents:

• Main text

View BVdb publication page

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A highly recurrent RPS27 5'UTR mutation in melanoma.

Oncotarget

Dutton-Regester, Ken K; Gartner, Jared J JJ; Emmanuel, Rafi R; Qutob, Nouar N; Davies, Michael A MA; Gershenwald, Jeffrey E JE; Robinson, William W; Robinson, Steven S; Rosenberg, Steven A SA; Scolyer, Richard A RA; Mann, Graham J GJ; Thompson, John F JF; Hayward, Nicholas K NK; Samuels, Yardena Y

Publication Date: 2014-05-30

Variant appearance in text: rs137854618

PubMed Link: 24913145

Variant Present in the following documents:

• oncotarget-05-2912-s003.xlsx, sheet 1

View BVdb publication page

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