Publications:

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Genetic variants in African-American and Hispanic patients with breast cancer.

Oncology Letters

Dutta, Pranabananda P; Keung, Man Y MY; Wu, Yanyuan Y; Vadgama, Jaydutt V JV

Publication Date: 2023-02

Variant appearance in text: SCN5A: 1381T>G; L461V

PubMed Link: 36644153

Variant Present in the following documents:

• Supplementary_Data5.xlsx, sheet 1

View BVdb publication page

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REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports

Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D

Publication Date: 2019-09-04

Variant appearance in text: SCN5A: 1381T>G; L461V

PubMed Link: 31484976

Variant Present in the following documents:

• 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation

Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,

Publication Date: 2019-01-01

Variant appearance in text: SCN5A: 1381T>G; Leu461Val

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

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Role of genetic and electrolyte abnormalities in prolonged QTc interval and sudden cardiac death in end-stage renal disease patients.

Plos One

Coll, Monica M; Ferrer-Costa, Carles C; Pich, Sara S; Allegue, Catarina C; Rodrigo, Emilio E; Fernández-Fresnedo, Gema G; Barreda, Paloma P; Mates, Jesus J; Martinez de Francisco, Angel Luis AL; Ortega, Israel I; Iglesias, Anna A; Campuzano, Oscar O; Salas, Eduardo E; Arias, Manuel M; Brugada, Ramon R

Publication Date: 2018

Variant appearance in text: SCN5A: 1381T>G; L461V; rs41313697

PubMed Link: 30020974

Variant Present in the following documents:

• Main text
• pone.0200756.pdf

View BVdb publication page

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Classification and Reporting of Potentially Proarrhythmic Common Genetic Variation in Long QT Syndrome Genetic Testing.

Circulation

Giudicessi, John R JR; Roden, Dan M DM; Wilde, Arthur A M AAM; Ackerman, Michael J MJ

Publication Date: 2018-02-06

Variant appearance in text: SCN5A: Leu461Val

PubMed Link: 29431662

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: L461V

PubMed Link: 29396561

Variant Present in the following documents:

• Main text

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: 1381T>G; Leu461Val

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Lidocaine attenuation testing: An in vivo investigation of putative LQT3-associated variants in the SCN5A-encoded sodium channel.

Heart Rhythm

Anderson, Heather N HN; Bos, J Martijn JM; Kapplinger, Jamie D JD; Meskill, Jana M JM; Ye, Dan D; Ackerman, Michael J MJ

Publication Date: 2017-08

Variant appearance in text: SCN5A: L461V

PubMed Link: 28412158

Variant Present in the following documents:

• Main text

View BVdb publication page

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Physiological and Pathophysiological Insights of Nav1.4 and Nav1.5 Comparison.

Frontiers In Pharmacology

Loussouarn, Gildas G; Sternberg, Damien D; Nicole, Sophie S; Marionneau, Céline C; Le Bouffant, Francoise F; Toumaniantz, Gilles G; Barc, Julien J; Malak, Olfat A OA; Fressart, Véronique V; Péréon, Yann Y; Baró, Isabelle I; Charpentier, Flavien F

Publication Date: 2015

Variant appearance in text: Nav1.5: L461V

PubMed Link: 26834636

Variant Present in the following documents:

• Main text
• fphar-06-00314.pdf

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: LQT3: L461V; rs41313697

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: SCN5A: L461V

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

View BVdb publication page

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Examining rare and low-frequency genetic variants previously associated with lone or familial forms of atrial fibrillation in an electronic medical record system: a cautionary note.

Circulation. Cardiovascular Genetics

Weeke, Peter P; Denny, Joshua C JC; Basterache, Lisa L; Shaffer, Christian C; Bowton, Erica E; Ingram, Christie C; Darbar, Dawood D; Roden, Dan M DM

Publication Date: 2015-02

Variant appearance in text: SCN5A: Leu461Val

PubMed Link: 25410959

Variant Present in the following documents:

• Main text

View BVdb publication page

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Atrial fibrillation: the role of common and rare genetic variants.

European Journal Of Human Genetics : Ejhg

Olesen, Morten S MS; Nielsen, Morten W MW; Haunsø, Stig S; Svendsen, Jesper H JH

Publication Date: 2014-03

Variant appearance in text: SCN5A: 1381T>G; Leu461Val

PubMed Link: 23838598

Variant Present in the following documents:

• Main text

View BVdb publication page

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Cardiac sodium channel (SCN5A) variants associated with atrial fibrillation.

Circulation

Darbar, Dawood D; Kannankeril, Prince J PJ; Donahue, Brian S BS; Kucera, Gayle G; Stubblefield, Tanya T; Haines, Jonathan L JL; George, Alfred L AL; Roden, Dan M DM

Publication Date: 2008-04-15

Variant appearance in text: SCN5A: L461V

PubMed Link: 18378609

Variant Present in the following documents:

• Main text

View BVdb publication page

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