Publications:

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Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances

Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X

Publication Date: 2020-07

Variant appearance in text: SCN5A: 635T>C; Leu212Pro

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 2

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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: L212P

PubMed Link: 30143662

Variant Present in the following documents:

• 41598_2018_30577_MOESM1_ESM.pdf

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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: 635T>C; Leu212Pro

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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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: LQT3: L212P

PubMed Link: 28150151

Variant Present in the following documents:

• Main text
• 13238_2017_Article_372.pdf

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Murine Electrophysiological Models of Cardiac Arrhythmogenesis.

Physiological Reviews

Huang, Christopher L-H CL

Publication Date: 2017-01

Variant appearance in text: SCN5A: L212P

PubMed Link: 27974512

Variant Present in the following documents:

• Main text

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Further Insights in the Most Common SCN5A Mutation Causing Overlapping Phenotype of Long QT Syndrome, Brugada Syndrome, and Conduction Defect.

Journal Of The American Heart Association

Veltmann, Christian C; Barajas-Martinez, Hector H; Wolpert, Christian C; Borggrefe, Martin M; Schimpf, Rainer R; Pfeiffer, Ryan R; Cáceres, Gabriel G; Burashnikov, Elena E; Antzelevitch, Charles C; Hu, Dan D

Publication Date: 2016-07-05

Variant appearance in text: SCN5A: L212P

PubMed Link: 27381756

Variant Present in the following documents:

• Main text
• JAH3-5-e003379.pdf

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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: SCN5A: L212P

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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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: L212P

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

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The genetic basis for inherited forms of sinoatrial dysfunction and atrioventricular node dysfunction.

Journal Of Interventional Cardiac Electrophysiology : An International Journal Of Arrhythmias And Pacing

Milanesi, Raffaella R; Bucchi, Annalisa A; Baruscotti, Mirko M

Publication Date: 2015-08

Variant appearance in text: SCN5A: L212P

PubMed Link: 25863800

Variant Present in the following documents:

• Main text

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Pathophysiological Mechanisms of Sino-Atrial Dysfunction and Ventricular Conduction Disease Associated with SCN5A Deficiency: Insights from Mouse Models.

Frontiers In Physiology

Huang, Christopher L-H CL; Lei, Lily L; Matthews, Gareth D K GD; Zhang, Yanmin Y; Lei, Ming M

Publication Date: 2012

Variant appearance in text: Nav1.5: L212P

PubMed Link: 22783200

Variant Present in the following documents:

• Main text
• fphys-03-00234.pdf

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Multiple loss-of-function mechanisms contribute to SCN5A-related familial sick sinus syndrome.

Plos One

Gui, Junhong J; Wang, Tao T; Jones, Richard P O RP; Trump, Dorothy D; Zimmer, Thomas T; Lei, Ming M

Publication Date: 2010-06-07

Variant appearance in text: SCN5A: L212P

PubMed Link: 20539757

Variant Present in the following documents:

• Main text
• pone.0010985.pdf

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