Publications:

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Racial Disparities in Ion Channelopathies and Inherited Cardiovascular Diseases Associated With Sudden Cardiac Death.

Journal Of The American Heart Association

Chahine, Mohamed M; Fontaine, John M JM; Boutjdir, Mohamed M

Publication Date: 2022-03-15

Variant appearance in text: SCN5A: S524Y

PubMed Link: 35243873

Variant Present in the following documents:

• Main text
• JAH3-11-e023446.pdf

View BVdb publication page

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2020 APHRS/HRS expert consensus statement on the investigation of decedents with sudden unexplained death and patients with sudden cardiac arrest, and of their families.

Journal Of Arrhythmia

Stiles, Martin K MK; Wilde, Arthur A M AAM; Abrams, Dominic J DJ; Ackerman, Michael J MJ; Albert, Christine M CM; Behr, Elijah R ER; Chugh, Sumeet S SS; Cornel, Martina C MC; Gardner, Karen K; Ingles, Jodie J; James, Cynthia A CA; Juang, Jyh-Ming Jimmy JJ; Kääb, Stefan S; Kaufman, Elizabeth S ES; Krahn, Andrew D AD; Lubitz, Steven A SA; MacLeod, Heather H; Morillo, Carlos A CA; Nademanee, Koonlawee K; Probst, Vincent V; Saarel, Elizabeth V EV; Sacilotto, Luciana L; Semsarian, Christopher C; Sheppard, Mary N MN; Shimizu, Wataru W; Skinner, Jonathan R JR; Tfelt-Hansen, Jacob J; Wang, Dao Wu DW

Publication Date: 2021-06

Variant appearance in text: SCN5A: S524Y

PubMed Link: 34141003

Variant Present in the following documents:

• JOA3-37-481-s001.pdf

View BVdb publication page

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2020 APHRS/HRS expert consensus statement on the investigation of decedents with sudden unexplained death and patients with sudden cardiac arrest, and of their families.

Heart Rhythm

Stiles, Martin K MK; Wilde, Arthur A M AAM; Abrams, Dominic J DJ; Ackerman, Michael J MJ; Albert, Christine M CM; Behr, Elijah R ER; Chugh, Sumeet S SS; Cornel, Martina C MC; Gardner, Karen K; Ingles, Jodie J; James, Cynthia A CA; Jimmy Juang, Jyh-Ming JM; Kääb, Stefan S; Kaufman, Elizabeth S ES; Krahn, Andrew D AD; Lubitz, Steven A SA; MacLeod, Heather H; Morillo, Carlos A CA; Nademanee, Koonlawee K; Probst, Vincent V; Saarel, Elizabeth V EV; Sacilotto, Luciana L; Semsarian, Christopher C; Sheppard, Mary N MN; Shimizu, Wataru W; Skinner, Jonathan R JR; Tfelt-Hansen, Jacob J; Wang, Dao Wu DW

Publication Date: 2021-01

Variant appearance in text: SCN5A: S524Y

PubMed Link: 33091602

Variant Present in the following documents:

• NIHMS1704401-supplement-supplementary_Appendix_3.pdf

View BVdb publication page

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The role of sodium channels in sudden unexpected death in pediatrics.

Molecular Genetics & Genomic Medicine

Rochtus, Anne M AM; Goldstein, Richard D RD; Holm, Ingrid A IA; Brownstein, Catherine A CA; Pérez-Palma, Eduardo E; Haynes, Robin R; Lal, Dennis D; Poduri, Annapurna H AH

Publication Date: 2020-08

Variant appearance in text: SCN5A: 1571C>A; S524Y

PubMed Link: 32449611

Variant Present in the following documents:

• MGG3-8-e1309-s002.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: 1571C>A; S524Y

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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Reappraisal of variants previously linked with sudden infant death syndrome: results from three population-based cohorts.

European Journal Of Human Genetics : Ejhg

Paludan-Müller, Christian C; Ghouse, Jonas J; Vad, Oliver B OB; Herfelt, Cecilie B CB; Lundegaard, Pia P; Ahlberg, Gustav G; Schmitt, Nicole N; Svendsen, Jesper H JH; Haunsø, Stig S; Bundgaard, Henning H; Hansen, Torben T; Kanters, Jørgen K JK; Olesen, Morten S MS

Publication Date: 2019-09

Variant appearance in text: SCN5A: Ser524Tyr; rs41313691

PubMed Link: 31043699

Variant Present in the following documents:

• Main text

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: 1571C>A; Ser524Tyr

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

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Channelopathy as a SUDEP Biomarker in Dravet Syndrome Patient-Derived Cardiac Myocytes.

Stem Cell Reports

Frasier, Chad R CR; Zhang, Helen H; Offord, James J; Dang, Louis T LT; Auerbach, David S DS; Shi, Huilin H; Chen, Chunling C; Goldman, Alica M AM; Eckhardt, L Lee LL; Bezzerides, Vassilios J VJ; Parent, Jack M JM; Isom, Lori L LL

Publication Date: 2018-09-11

Variant appearance in text: SCN5A: S524Y

PubMed Link: 30146492

Variant Present in the following documents:

• Main text

View BVdb publication page

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Retrospective Genetic Analysis of 200 Cases of Sudden Infant Death Syndrome and Its Relationship with Long QT Syndrome in Korea.

Journal Of Korean Medical Science

Son, Min-Jeong MJ; Kim, Min-Kyoung MK; Yang, Kyung-Moo KM; Choi, Byung-Ha BH; Lee, Bong Woo BW; Yoo, Seong Ho SH

Publication Date: 2018-08-06

Variant appearance in text: SCN5A: S524Y

PubMed Link: 30079003

Variant Present in the following documents:

• Main text
• jkms-33-e200.pdf

View BVdb publication page

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Clinical and genetic characteristics of pulmonary arterial hypertension in Lebanon.

Bmc Medical Genetics

Abou Hassan, Ossama K OK; Haidar, Wiam W; Nemer, Georges G; Skouri, Hadi H; Haddad, Fadi F; BouAkl, Imad I

Publication Date: 2018-05-30

Variant appearance in text: rs41313691

PubMed Link: 29843651

Variant Present in the following documents:

• 12881_2018_608_MOESM1_ESM.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: Ser524Tyr

PubMed Link: 29431662

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic variation in human drug-related genes.

Genome Medicine

Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS

Publication Date: 2017-12-22

Variant appearance in text: rs41313691

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

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: 1571C>A; Ser524Tyr

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Sudden infant death syndrome due to long QT syndrome: a brief review of the genetic substrate and prevalence.

Journal Of Biological Research (Thessalonike, Greece)

Ioakeimidis, Nikolaos S NS; Papamitsou, Theodora T; Meditskou, Soultana S; Iakovidou-Kritsi, Zafiroula Z

Publication Date: 2017-12

Variant appearance in text: SCN5A: S524Y

PubMed Link: 28316956

Variant Present in the following documents:

• Main text
• 40709_2017_Article_63.pdf

View BVdb publication page

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Molecular analysis of urothelial cancer cell lines for modeling tumor biology and drug response.

Oncogene

Nickerson, M L ML; Witte, N N; Im, K M KM; Turan, S S; Owens, C C; Misner, K K; Tsang, S X SX; Cai, Z Z; Wu, S S; Dean, M M; Costello, J C JC; Theodorescu, D D

Publication Date: 2017-01-05

Variant appearance in text: SCN5A: S524Y; rs41313691

PubMed Link: 27270441

Variant Present in the following documents:

• onc2016172x3.xls, sheet 3

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: rs41313691

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Recurrent inactivating RASA2 mutations in melanoma.

Nature Genetics

Arafeh, Rand R; Qutob, Nouar N; Emmanuel, Rafi R; Keren-Paz, Alona A; Madore, Jason J; Elkahloun, Abdel A; Wilmott, James S JS; Gartner, Jared J JJ; Di Pizio, Antonella A; Winograd-Katz, Sabina S; Sindiri, Sivasish S; Rotkopf, Ron R; Dutton-Regester, Ken K; Johansson, Peter P; Pritchard, Antonia L AL; Waddell, Nicola N; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Rosenberg, Steven A SA; Khan, Javed J; Ben-Dor, Shifra S; Niv, Masha Y MY; Ulitsky, Igor I; Mann, Graham J GJ; Scolyer, Richard A RA; Hayward, Nicholas K NK; Samuels, Yardena Y

Publication Date: 2015-12

Variant appearance in text: rs41313691

PubMed Link: 26502337

Variant Present in the following documents:

• NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 1

View BVdb publication page

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Identification of Medically Actionable Secondary Findings in the 1000 Genomes.

Plos One

Olfson, Emily E; Cottrell, Catherine E CE; Davidson, Nicholas O NO; Gurnett, Christina A CA; Heusel, Jonathan W JW; Stitziel, Nathan O NO; Chen, Li-Shiun LS; Hartz, Sarah S; Nagarajan, Rakesh R; Saccone, Nancy L NL; Bierut, Laura J LJ

Publication Date: 2015

Variant appearance in text: SCN5A: 1571C>A; Ser524Tyr; rs41313691

PubMed Link: 26332594

Variant Present in the following documents:

• pone.0135193.s002.xls, 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: S524Y

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: Ser524Tyr

PubMed Link: 25410959

Variant Present in the following documents:

• Main text

View BVdb publication page

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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: SCN5A: S524Y; rs41313691

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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Sequencing of SCN5A identifies rare and common variants associated with cardiac conduction: Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium.

Circulation. Cardiovascular Genetics

Magnani, Jared W JW; Brody, Jennifer A JA; Prins, Bram P BP; Arking, Dan E DE; Lin, Honghuang H; Yin, Xiaoyan X; Liu, Ching-Ti CT; Morrison, Alanna C AC; Zhang, Feng F; Spector, Tim D TD; Alonso, Alvaro A; Bis, Joshua C JC; Heckbert, Susan R SR; Lumley, Thomas T; Sitlani, Colleen M CM; Cupples, L Adrienne LA; Lubitz, Steven A SA; Soliman, Elsayed Z EZ; Pulit, Sara L SL; Newton-Cheh, Christopher C; O'Donnell, Christopher J CJ; Ellinor, Patrick T PT; Benjamin, Emelia J EJ; Muzny, Donna M DM; Gibbs, Richard A RA; Santibanez, Jireh J; Taylor, Herman A HA; Rotter, Jerome I JI; Lange, Leslie A LA; Psaty, Bruce M BM; Jackson, Rebecca R; Rich, Stephen S SS; Boerwinkle, Eric E; Jamshidi, Yalda Y; Sotoodehnia, Nona N; , ; , ; ,

Publication Date: 2014-06

Variant appearance in text: SCN5A: S524Y; rs41313691

PubMed Link: 24951663

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: rs41313691

PubMed Link: 24913145

Variant Present in the following documents:

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

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: 1571C>A; Ser524Tyr

PubMed Link: 23838598

Variant Present in the following documents:

• Main text

View BVdb publication page

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Long QT syndrome-associated mutations in intrauterine fetal death.

Jama

Crotti, Lia L; Tester, David J DJ; White, Wendy M WM; Bartos, Daniel C DC; Insolia, Roberto R; Besana, Alessandra A; Kunic, Jennifer D JD; Will, Melissa L ML; Velasco, Ellyn J EJ; Bair, Jennifer J JJ; Ghidoni, Alice A; Cetin, Irene I; Van Dyke, Daniel L DL; Wick, Myra J MJ; Brost, Brian B; Delisle, Brian P BP; Facchinetti, Fabio F; George, Alfred L AL; Schwartz, Peter J PJ; Ackerman, Michael J MJ

Publication Date: 2013-04-10

Variant appearance in text: SCN5A: 1571C>A; S524Y

PubMed Link: 23571586

Variant Present in the following documents:

• Main text

View BVdb publication page

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Cardiac ion channelopathies and the sudden infant death syndrome.

Isrn Cardiology

Wilders, Ronald R

Publication Date: 2012

Variant appearance in text: SCN5A: S524Y

PubMed Link: 23304551

Variant Present in the following documents:

• Main text
• ISRN.CARDIOLOGY2012-846171.pdf

View BVdb publication page

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A novel SCN5A mutation V1340I in Brugada syndrome augmenting arrhythmias during febrile illness.

Heart Rhythm

Samani, Kaveh K; Wu, Geru G; Ai, Tomohiko T; Shuraih, Mossaab M; Mathuria, Nilesh S NS; Li, Zhaohui Z; Sohma, Yoshiro Y; Purevjav, Enkhsaikhan E; Xi, Yutao Y; Towbin, Jeffrey A JA; Cheng, Jie J; Vatta, Matteo M

Publication Date: 2009-09

Variant appearance in text: SCN5A: S524Y

PubMed Link: 19648062

Variant Present in the following documents:

• Main text

View BVdb publication page

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In silico investigations on functional and haplotype tag SNPs associated with congenital long QT syndromes (LQTSs).

Genomic Medicine

Sudandiradoss, C C; Sethumadhavan, Rao R

Publication Date: 2008-12

Variant appearance in text: rs41313691

PubMed Link: 19214780

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Nucleic Acids Research

Ryu, Gil-Mi GM; Song, Pamela P; Kim, Kyu-Won KW; Oh, Kyung-Soo KS; Park, Keun-Joon KJ; Kim, Jong Hun JH

Publication Date: 2009-03

Variant appearance in text: SCN5A: S524Y; rs41313691

PubMed Link: 19139070

Variant Present in the following documents:

• gkn1008_nar-01723-s-2008-File009.xls, sheet 1

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: S524Y

PubMed Link: 18378609

Variant Present in the following documents:

• Main text

View BVdb publication page

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Yale University School of Medicine Thesis Abstracts - 2004.

The Yale Journal Of Biology And Medicine

Publication Date: 2004-01

Variant appearance in text: SCN5A: S524Y

PubMed Link: 18170931

Variant Present in the following documents:

• 18170931.pdf

View BVdb publication page

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A novel C-terminal truncation SCN5A mutation from a patient with sick sinus syndrome, conduction disorder and ventricular tachycardia.

Cardiovascular Research

Tan, Bi-Hua BH; Iturralde-Torres, Pedro P; Medeiros-Domingo, Argelia A; Nava, Santiago S; Tester, David J DJ; Valdivia, Carmen R CR; Tusié-Luna, Teresa T; Ackerman, Michael J MJ; Makielski, Jonathan C JC

Publication Date: 2007-12-01

Variant appearance in text: SCN5A: S524Y

PubMed Link: 17897635

Variant Present in the following documents:

• Main text

View BVdb publication page

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