Publications:

---

Whole-exome sequencing analyses in a Saudi Ischemic Stroke Cohort reveal association signals, and shows polygenic risk scores are related to Modified Rankin Scale Risk.

Functional & Integrative Genomics

Alkhamis, Fahad A FA; Alabdali, Majed M MM; Alsulaiman, Abdulla A AA; Alamri, Abdullah S AS; Alali, Rudaynah R; Akhtar, Mohammed S MS; Alsalman, Sadiq A SA; Cyrus, Cyril C; Albakr, Aishah I AI; Alduhalan, Anas S AS; Gandla, Divya D; Al-Romaih, Khaldoun K; Abouelhoda, Mohamed M; Loza, Bao-Li BL; Keating, Brendan B; Al-Ali, Amein K AK

Publication Date: 2023-03-27

Variant appearance in text: SCN5A: 1852C>T; rs45488304

PubMed Link: 36973604

Variant Present in the following documents:

• 10142_2023_1039_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

---

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: 1852C>T; L618F

PubMed Link: 32449611

Variant Present in the following documents:

• MGG3-8-e1309-s002.xlsx, sheet 1

View BVdb publication page

---

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: 1852C>T; L618F

PubMed Link: 31484976

Variant Present in the following documents:

• 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

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: 1852C>T; Leu618Phe

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

---

An African loss-of-function CACNA1C variant p.T1787M associated with a risk of ventricular fibrillation.

Scientific Reports

Blancard, Malorie M; Debbiche, Amal A; Kato, Koichi K; Cardin, Christelle C; Sabrina, Guichard G; Gandjbakhch, Estelle E; Probst, Vincent V; Haissaguerre, Michel M; Extramiana, Fabrice F; Hocini, Mélèze M; Olivier, Geoffroy G; Leenhardt, Antoine A; Guicheney, Pascale P; Rougier, Jean-Sébastien JS

Publication Date: 2018-10-02

Variant appearance in text: SCN5A: 1852C>T

PubMed Link: 30279520

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: L618F

PubMed Link: 30143662

Variant Present in the following documents:

• 41598_2018_30577_MOESM1_ESM.pdf

View BVdb publication page

---

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: 1852C>T; Leu618Phe

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

---

Congenital long QT syndrome: A difficult journey for one young survivor.

Heartrhythm Case Reports

Saarel, Elizabeth V EV; Etheridge, Susan P SP; Gamboa, David G DG; Pilcher, Thomas A TA

Publication Date: 2015-11

Variant appearance in text: rs45488304

PubMed Link: 28491593

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

---

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: L618F

PubMed Link: 28316956

Variant Present in the following documents:

• Main text
• 40709_2017_Article_63.pdf

View BVdb publication page

---

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: SCN5A: L618F; rs45488304

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

---

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: 1852C>T; Leu618Phe; rs45488304

PubMed Link: 26332594

Variant Present in the following documents:

• pone.0135193.s002.xls, sheet 1

View BVdb publication page

---

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: L618F

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

View BVdb publication page

---

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: Leu618Phe

PubMed Link: 25410959

Variant Present in the following documents:

• Main text

View BVdb publication page

---

CaMKII-dependent regulation of cardiac Na(+) homeostasis.

Frontiers In Pharmacology

Grandi, Eleonora E; Herren, Anthony W AW

Publication Date: 2014

Variant appearance in text: SCN5A: L618F

PubMed Link: 24653702

Variant Present in the following documents:

• Main text
• fphar-05-00041.pdf

View BVdb publication page

---

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: 1852C>T; Leu618Phe

PubMed Link: 23838598

Variant Present in the following documents:

• Main text

View BVdb publication page

---

High prevalence of genetic variants previously associated with LQT syndrome in new exome data.

European Journal Of Human Genetics : Ejhg

Refsgaard, Lena L; Holst, Anders G AG; Sadjadieh, Golnaz G; Haunsø, Stig S; Nielsen, Jonas B JB; Olesen, Morten S MS

Publication Date: 2012-08

Variant appearance in text: SCN5A: L618F

PubMed Link: 22378279

Variant Present in the following documents:

• Main text
• ejhg201223a.pdf

View BVdb publication page

---

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: LQT3: L618F

PubMed Link: 18378609

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Drug-induced torsades de pointes and implications for drug development.

Journal Of Cardiovascular Electrophysiology

Fenichel, Robert R RR; Malik, Marek M; Antzelevitch, Charles C; Sanguinetti, Michael M; Roden, Dan M DM; Priori, Silvia G SG; Ruskin, Jeremy N JN; Lipicky, Raymond J RJ; Cantilena, Louis R LR; ,

Publication Date: 2004-04

Variant appearance in text: SCN5A: L618F

PubMed Link: 15090000

Variant Present in the following documents:

• Main text

View BVdb publication page

---