Publications:

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Assessment of the Diagnostic Yield of Combined Cardiomyopathy and Arrhythmia Genetic Testing.

Jama Cardiology

Dellefave-Castillo, Lisa M LM; Cirino, Allison L AL; Callis, Thomas E TE; Esplin, Edward D ED; Garcia, John J; Hatchell, Kathryn E KE; Johnson, Britt B; Morales, Ana A; Regalado, Ellen E; Rojahn, Susan S; Vatta, Matteo M; Nussbaum, Robert L RL; McNally, Elizabeth M EM

Publication Date: 2022-09-01

Variant appearance in text: SCN5A: 1019G>A; Arg340Gln

PubMed Link: 35947370

Variant Present in the following documents:

• jamacardiol-e222455-s002.xlsx, sheet 1

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Structures Illuminate Cardiac Ion Channel Functions in Health and in Long QT Syndrome.

Frontiers In Pharmacology

Brewer, Kathryn R KR; Kuenze, Georg G; Vanoye, Carlos G CG; George, Alfred L AL; Meiler, Jens J; Sanders, Charles R CR

Publication Date: 2020

Variant appearance in text: SCN5A: R340Q

PubMed Link: 32431610

Variant Present in the following documents:

• Main text
• Table_1.xlsx, sheet 1
• fphar-11-00550.pdf

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Familial trigeminal neuralgia - a systematic clinical study with a genomic screen of the neuronal electrogenisome.

Cephalalgia : An International Journal Of Headache

Di Stefano, Giulia G; Yuan, Jun-Hui JH; Cruccu, Giorgio G; Waxman, Stephen G SG; Dib-Hajj, Sulayman D SD; Truini, Andrea A

Publication Date: 2020-07

Variant appearance in text: SCN5A: Arg340Gln

PubMed Link: 31928344

Variant Present in the following documents:

• Main text
• 10.1177_0333102419897623.pdf

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Predicting changes to INa from missense mutations in human SCN5A.

Scientific Reports

Clerx, Michael M; Heijman, Jordi J; Collins, Pieter P; Volders, Paul G A PGA

Publication Date: 2018-08-24

Variant appearance in text: SCN5A: R340Q

PubMed Link: 30143662

Variant Present in the following documents:

• 41598_2018_30577_MOESM1_ESM.pdf

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Next-generation sequencing of AV nodal reentrant tachycardia patients identifies broad spectrum of variants in ion channel genes.

European Journal Of Human Genetics : Ejhg

Andreasen, Laura L; Ahlberg, Gustav G; Tang, Chuyi C; Andreasen, Charlotte C; Hartmann, Jacob P JP; Tfelt-Hansen, Jacob J; Behr, Elijah R ER; Pehrson, Steen S; Haunsø, Stig S; LuCamp, ; Weeke, Peter E PE; Jespersen, Thomas T; Olesen, Morten S MS; Svendsen, Jesper H JH

Publication Date: 2018-05

Variant appearance in text: SCN5A: 1019G>A

PubMed Link: 29396561

Variant Present in the following documents:

• Main text

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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: R340Q

PubMed Link: 28706299

Variant Present in the following documents:

• emm2017142x5.xls, sheet 1
• emm2017142x4.xls, sheet 1

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Genetic investigation of 100 heart genes in sudden unexplained death victims in a forensic setting.

European Journal Of Human Genetics : Ejhg

Christiansen, Sofie Lindgren SL; Hertz, Christin Løth CL; Ferrero-Miliani, Laura L; Dahl, Morten M; Weeke, Peter Ejvin PE; LuCamp, ; Ottesen, Gyda Lolk GL; Frank-Hansen, Rune R; Bundgaard, Henning H; Morling, Niels N

Publication Date: 2016-12

Variant appearance in text: SCN5A: 1019G>A; R340Q

PubMed Link: 27650965

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic Discoveries in Atrial Fibrillation and Implications for Clinical Practice.

Arrhythmia & Electrophysiology Review

Mahida, Saagar S

Publication Date: 2014-08

Variant appearance in text: SCN5A: R340Q

PubMed Link: 26835069

Variant Present in the following documents:

• Main text

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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: R340Q; rs191009474

PubMed Link: 26214305

Variant Present in the following documents:

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

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Whole-genome amplified DNA from stored dried blood spots is reliable in high resolution melting curve and sequencing analysis.

Bmc Medical Genetics

Winkel, Bo G BG; Hollegaard, Mads V MV; Olesen, Morten S MS; Svendsen, Jesper H JH; Haunsø, Stig S; Hougaard, David M DM; Tfelt-Hansen, Jacob J

Publication Date: 2011-02-09

Variant appearance in text: SCN5A: R340Q

PubMed Link: 21306642

Variant Present in the following documents:

• Main text
• 1471-2350-12-22.pdf

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