Publications:

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Landscape of somatic single nucleotide variants and indels in colorectal cancer and impact on survival.

Nature Communications

Zaidi, Syed H SH; Harrison, Tabitha A TA; Phipps, Amanda I AI; Steinfelder, Robert R; Trinh, Quang M QM; Qu, Conghui C; Banbury, Barbara L BL; Georgeson, Peter P; Grasso, Catherine S CS; Giannakis, Marios M; Adams, Jeremy B JB; Alwers, Elizabeth E; Amitay, Efrat L EL; Barfield, Richard T RT; Berndt, Sonja I SI; Borozan, Ivan I; Brenner, Hermann H; Brezina, Stefanie S; Buchanan, Daniel D DD; Cao, Yin Y; Chan, Andrew T AT; Chang-Claude, Jenny J; Connolly, Charles M CM; Drew, David A DA; Farris, Alton Brad AB; Figueiredo, Jane C JC; French, Amy J AJ; Fuchs, Charles S CS; Garraway, Levi A LA; Gruber, Steve S; Guinter, Mark A MA; Hamilton, Stanley R SR; Harlid, Sophia S; Heisler, Lawrence E LE; Hidaka, Akihisa A; Hopper, John L JL; Huang, Wen-Yi WY; Huyghe, Jeroen R JR; Jenkins, Mark A MA; Krzyzanowski, Paul M PM; Lemire, Mathieu M; Lin, Yi Y; Luo, Xuemei X; Mardis, Elaine R ER; McPherson, John D JD; Miller, Jessica K JK; Moreno, Victor V; Mu, Xinmeng Jasmine XJ; Nishihara, Reiko R; Papadopoulos, Nickolas N; Pasternack, Danielle D; Quist, Michael J MJ; Rafikova, Adilya A; Reid, Emma E G EEG; Shinbrot, Eve E; Shirts, Brian H BH; Stein, Lincoln D LD; Teney, Cherie D CD; Timms, Lee L; Um, Caroline Y CY; Van Guelpen, Bethany B; Van Tassel, Megan M; Wang, Xiaolong X; Wheeler, David A DA; Yung, Christina K CK; Hsu, Li L; Ogino, Shuji S; Gsur, Andrea A; Newcomb, Polly A PA; Gallinger, Steven S; Hoffmeister, Michael M; Campbell, Peter T PT; Thibodeau, Stephen N SN; Sun, Wei W; Hudson, Thomas J TJ; Peters, Ulrike U

Publication Date: 2020-07-20

Variant appearance in text: SCN5A: C373F

PubMed Link: 32686686

Variant Present in the following documents:

• 41467_2020_17386_MOESM4_ESM.xlsx, sheet 1

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E1784K, the most common Brugada syndrome and long-QT syndrome type 3 mutant, disrupts sodium channel inactivation through two separate mechanisms.

The Journal Of General Physiology

Peters, Colin H CH; Watkins, Abeline R AR; Poirier, Olivia L OL; Ruben, Peter C PC

Publication Date: 2020-09-07

Variant appearance in text: LQT3: C373F

PubMed Link: 32569350

Variant Present in the following documents:

• Main text
• JGP_202012595.pdf

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Depolarization of the conductance-voltage relationship in the NaV1.5 mutant, E1784K, is due to altered fast inactivation.

Plos One

Peters, Colin H CH; Yu, Alec A; Zhu, Wandi W; Silva, Jonathan R JR; Ruben, Peter C PC

Publication Date: 2017

Variant appearance in text: SCN5A: C373F

PubMed Link: 28898267

Variant Present in the following documents:

• Main text
• pone.0184605.pdf

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ClinLabGeneticist: a tool for clinical management of genetic variants from whole exome sequencing in clinical genetic laboratories.

Genome Medicine

Wang, Jinlian J; Liao, Jun J; Zhang, Jinglan J; Cheng, Wei-Yi WY; Hakenberg, Jörg J; Ma, Meng M; Webb, Bryn D BD; Ramasamudram-Chakravarthi, Rajasekar R; Karger, Lisa L; Mehta, Lakshmi L; Kornreich, Ruth R; Diaz, George A GA; Li, Shuyu S; Edelmann, Lisa L; Chen, Rong R

Publication Date: 2015-07-29

Variant appearance in text: SCN5A: 1118G>T; C373F

PubMed Link: 26338694

Variant Present in the following documents:

• 13073_2015_207_MOESM1_ESM.xlsx, sheet 6

View BVdb publication page

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MTSET modification of D4S6 cysteines stabilize the fast inactivated state of Nav1.5 sodium channels.

Frontiers In Pharmacology

O'Leary, Michael E ME; Chahine, Mohamed M

Publication Date: 2015

Variant appearance in text: Nav1.5: C373F

PubMed Link: 26150789

Variant Present in the following documents:

• Main text
• fphar-06-00118.pdf

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Proton sensors in the pore domain of the cardiac voltage-gated sodium channel.

The Journal Of Biological Chemistry

Jones, David K DK; Peters, Colin H CH; Allard, Charlene R CR; Claydon, Tom W TW; Ruben, Peter C PC

Publication Date: 2013-02-15

Variant appearance in text: Nav1.5: C373F

PubMed Link: 23283979

Variant Present in the following documents:

• Main text

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A proton leak current through the cardiac sodium channel is linked to mixed arrhythmia and the dilated cardiomyopathy phenotype.

Plos One

Gosselin-Badaroudine, Pascal P; Keller, Dagmar I DI; Huang, Hai H; Pouliot, Valérie V; Chatelier, Aurélien A; Osswald, Stefan S; Brink, Marijke M; Chahine, Mohamed M

Publication Date: 2012

Variant appearance in text: Nav1.5: C373F

PubMed Link: 22675453

Variant Present in the following documents:

• Main text
• pone.0038331.pdf

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