Publications:

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Short QT Syndrome: A Comprehensive Genetic Interpretation and Clinical Translation of Rare Variants.

Journal Of Clinical Medicine

Campuzano, Oscar O; Fernandez-Falgueras, Anna A; Lemus, Ximena X; Sarquella-Brugada, Georgia G; Cesar, Sergi S; Coll, Monica M; Mates, Jesus J; Arbelo, Elena E; Jordà, Paloma P; Perez-Serra, Alexandra A; Del Olmo, Bernat B; Ferrer-Costa, Carles C; Iglesias, Anna A; Fiol, Victoria V; Puigmulé, Marta M; Lopez, Laura L; Pico, Ferran F; Brugada, Josep J; Brugada, Ramon R

Publication Date: 2019-07-16

Variant appearance in text: CACNA1C: Arg1880Gln; rs182208896

PubMed Link: 31315195

Variant Present in the following documents:

• Main text
• jcm-08-01035.pdf

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Recent Advances in Short QT Syndrome.

Frontiers In Cardiovascular Medicine

Campuzano, Oscar O; Sarquella-Brugada, Georgia G; Cesar, Sergi S; Arbelo, Elena E; Brugada, Josep J; Brugada, Ramon R

Publication Date: 2018

Variant appearance in text: CACNA1C: Arg1880Gln

PubMed Link: 30420954

Variant Present in the following documents:

• Main text
• fcvm-05-00149.pdf

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Mutations in voltage-gated L-type calcium channel: implications in cardiac arrhythmia.

Channels (Austin, Tex.)

Zhang, Qing Q; Chen, Junjie J; Qin, Yao Y; Wang, Juejin J; Zhou, Lei L

Publication Date: 2018

Variant appearance in text: CACNA1C: R1880Q

PubMed Link: 30027834

Variant Present in the following documents:

• Main text

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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: CACNA1C: 5639G>A; Arg1880Gln

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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The genetic component of Brugada syndrome.

Frontiers In Physiology

Nielsen, Morten W MW; Holst, Anders G AG; Olesen, Søren-Peter SP; Olesen, Morten S MS

Publication Date: 2013

Variant appearance in text: CACNA1C: R1880Q

PubMed Link: 23874304

Variant Present in the following documents:

• Main text

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What can naturally occurring mutations tell us about Ca(v)1.x channel function?

Biochimica Et Biophysica Acta

Stockner, Thomas T; Koschak, Alexandra A

Publication Date: 2013-07

Variant appearance in text: CACNA1C: Arg1880Gln

PubMed Link: 23219801

Variant Present in the following documents:

• Main text

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Mutations in the cardiac L-type calcium channel associated with inherited J-wave syndromes and sudden cardiac death.

Heart Rhythm

Burashnikov, Elena E; Pfeiffer, Ryan R; Barajas-Martinez, Héctor H; Delpón, Eva E; Hu, Dan D; Desai, Mayurika M; Borggrefe, Martin M; Häissaguerre, Michel M; Kanter, Ronald R; Pollevick, Guido D GD; Guerchicoff, Alejandra A; Laiño, Ruben R; Marieb, Mark M; Nademanee, Koonlawee K; Nam, Gi-Byoung GB; Robles, Roberto R; Schimpf, Rainer R; Stapleton, Dwight D DD; Viskin, Sami S; Winters, Stephen S; Wolpert, Christian C; Zimmern, Samuel S; Veltmann, Christian C; Antzelevitch, Charles C

Publication Date: 2010-12

Variant appearance in text: CACNA1C: 5639G>A

PubMed Link: 20817017

Variant Present in the following documents:

• Main text

View BVdb publication page

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