Publications:

---

Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: SCN5A: 1410C>G; Asn470Lys

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

---

Human-induced pluripotent stem cell-atrial-specific cardiomyocytes and atrial fibrillation.

World Journal Of Clinical Cases

Leowattana, Wattana W; Leowattana, Tawithep T; Leowattana, Pathomthep P

Publication Date: 2022-09-26

Variant appearance in text: SCN5A: N470K

PubMed Link: 36186184

Variant Present in the following documents:

• WJCC-10-9588.pdf

View BVdb publication page

---

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: 1410C>G; Asn470Lys

PubMed Link: 35947370

Variant Present in the following documents:

• jamacardiol-e222455-s002.xlsx, sheet 1

View BVdb publication page

---

Research progress of Nedd4L in cardiovascular diseases.

Cell Death Discovery

Li, Mohan M; Sun, Guozhe G; Wang, Pengbo P; Wang, Wenbin W; Cao, Kexin K; Song, Chunyu C; Sun, Yingxian Y; Zhang, Ying Y; Zhang, Naijin N

Publication Date: 2022-04-16

Variant appearance in text: SCN5A: N470K

PubMed Link: 35429991

Variant Present in the following documents:

• Main text
• 41420_2022_Article_1017.pdf

View BVdb publication page

---

Inherited and Acquired Rhythm Disturbances in Sick Sinus Syndrome, Brugada Syndrome, and Atrial Fibrillation: Lessons from Preclinical Modeling.

Cells

Iop, Laura L; Iliceto, Sabino S; Civieri, Giovanni G; Tona, Francesco F

Publication Date: 2021-11-15

Variant appearance in text: Nav1.5: N470K

PubMed Link: 34831398

Variant Present in the following documents:

• Main text
• cells-10-03175.pdf

View BVdb publication page

---

Human induced pluripotent stem cell-derived atrial cardiomyocytes carrying an SCN5A mutation identify nitric oxide signaling as a mediator of atrial fibrillation.

Stem Cell Reports

Hong, Liang L; Zhang, Meihong M; Ly, Olivia Thao OT; Chen, Hanna H; Sridhar, Arvind A; Lambers, Erin E; Chalazan, Brandon B; Youn, Seock-Won SW; Maienschein-Cline, Mark M; Feferman, Leonid L; Ong, Sang-Ging SG; Wu, Joseph C JC; Rehman, Jalees J; Darbar, Dawood D

Publication Date: 2021-06-08

Variant appearance in text: SCN5A: N470K

PubMed Link: 34019817

Variant Present in the following documents:

• Main text
• main.pdf
• mmc5.pdf
• mmc1.pdf

View BVdb publication page

---

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: N470K

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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: 1410C>G; Asn470Lys

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

---

Structure-based assessment of disease-related mutations in human voltage-gated sodium channels.

Protein & Cell

Huang, Weiyun W; Liu, Minhao M; Yan, S Frank SF; Yan, Nieng N

Publication Date: 2017-06

Variant appearance in text: CMD1E: N470K

PubMed Link: 28150151

Variant Present in the following documents:

• Main text
• 13238_2017_Article_372.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: LQT3: N470K

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, 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: N470K

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

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: 1410C>G; Asn470Lys

PubMed Link: 23838598

Variant Present in the following documents:

• Main text

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: SCN5A: N470K

PubMed Link: 18378609

Variant Present in the following documents:

• Main text

View BVdb publication page

---