Publications:

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Genetic testing in children with Brugada syndrome: results from a large prospective registry.

Europace : European Pacing, Arrhythmias, And Cardiac Electrophysiology : Journal Of The Working Groups On Cardiac Pacing, Arrhythmias, And Cardiac Cellular Electrophysiology Of The European Society Of Cardiology

Pannone, Luigi L; Bisignani, Antonio A; Osei, Randy R; Gauthey, Anaïs A; Sorgente, Antonio A; Vergara, Pasquale P; Monaco, Cinzia C; Della Rocca, Domenico Giovanni DG; Del Monte, Alvise A; Strazdas, Antanas A; Mojica, Joerelle J; Al Housari, Maysam M; Miraglia, Vincenzo V; Mouram, Sahar S; Paparella, Gaetano G; Ramak, Robbert R; Overeinder, Ingrid I; Bala, Gezim G; Almorad, Alexandre A; Ströker, Erwin E; Pappaert, Gudrun G; Sieira, Juan J; de Ravel, Thomy T; La Meir, Mark M; Brugada, Pedro P; Chierchia, Gian Battista GB; Van Dooren, Sonia S; de Asmundis, Carlo C

Publication Date: 2023-04-16

Variant appearance in text: SCN5A: 2729C>T; Ser910Leu

PubMed Link: 37061847

Variant Present in the following documents:

• Main text
• euad079.pdf

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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: 2729C>T; Ser910Leu

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Exploring prognostic indicators in the pathological images of ovarian cancer based on a deep survival network.

Frontiers In Genetics

Wu, Meixuan M; Zhu, Chengguang C; Yang, Jiani J; Cheng, Shanshan S; Yang, Xiaokang X; Gu, Sijia S; Xu, Shilin S; Wu, Yongsong Y; Shen, Wei W; Huang, Shan S; Wang, Yu Y

Publication Date: 2022

Variant appearance in text: SCN5A: 2729C>T; Ser910Leu; rs199473175

PubMed Link: 36685892

Variant Present in the following documents:

• Table3.xlsx, sheet 1

View BVdb publication page

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Progressive atrial myocardial fibrosis in a 4-year-old girl with atrial standstill associated with an SCN5A gene mutation.

Heartrhythm Case Reports

Kato, Yoshiaki Y; Nozaki, Yoshihiro Y; Takahashi-Igari, Miho M; Sugano, Masato M; Makita, Naomasa N; Horigome, Hitoshi H

Publication Date: 2022-09

Variant appearance in text: Nav1.5: S910L

PubMed Link: 36147716

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Gene variant effects across sodium channelopathies predict function and guide precision therapy.

Brain : A Journal Of Neurology

Brunklaus, Andreas A; Feng, Tony T; Brünger, Tobias T; Perez-Palma, Eduardo E; Heyne, Henrike H; Matthews, Emma E; Semsarian, Christopher C; Symonds, Joseph D JD; Zuberi, Sameer M SM; Lal, Dennis D; Schorge, Stephanie S

Publication Date: 2022-01-17

Variant appearance in text: SCN5A: S910L

PubMed Link: 35037686

Variant Present in the following documents:

• awac006_Supplementary_Data.pdf

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A Fifteen-Gene Classifier to Predict Neoadjuvant Chemotherapy Responses in Patients with Stage IB to IIB Squamous Cervical Cancer.

Advanced Science (Weinheim, Baden-Wurttemberg, Germany)

Tian, Xun X; Wang, Xin X; Cui, Zifeng Z; Liu, Jia J; Huang, Xiaoyuan X; Shi, Caixia C; Zhang, Min M; Liu, Ting T; Du, Xiaofang X; Li, Rui R; Huang, Lei L; Gong, Danni D; Tian, Rui R; Cao, Chen C; Jin, Ping P; Zeng, Zhen Z; Pan, Guangxin G; Xia, Meng M; Zhang, Hongfeng H; Luo, Bo B; Xie, Yonghui Y; Li, Xiaoming X; Li, Tianye T; Wu, Jun J; Zhang, Qinghua Q; Chen, Gang G; Hu, Zheng Z

Publication Date: 2021-05

Variant appearance in text: SCN5A: S910L

PubMed Link: 34026427

Variant Present in the following documents:

• ADVS-8-2001978-s004.xlsx, sheet 4

View BVdb publication page

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SCN5A Mutation Type and a Genetic Risk Score Associate Variably With Brugada Syndrome Phenotype in SCN5A Families.

Circulation. Genomic And Precision Medicine

Wijeyeratne, Yanushi D YD; Tanck, Michael W MW; Mizusawa, Yuka Y; Batchvarov, Velislav V; Barc, Julien J; Crotti, Lia L; Bos, J Martijn JM; Tester, David J DJ; Muir, Alison A; Veltmann, Christian C; Ohno, Seiko S; Page, Stephen P SP; Galvin, Joseph J; Tadros, Rafik R; Muggenthaler, Martina M; Raju, Hariharan H; Denjoy, Isabelle I; Schott, Jean-Jacques JJ; Gourraud, Jean-Baptiste JB; Skoric-Milosavljevic, Doris D; Nannenberg, Eline A EA; Redon, Richard R; Papadakis, Michael M; Kyndt, Florence F; Dagradi, Federica F; Castelletti, Silvia S; Torchio, Margherita M; Meitinger, Thomas T; Lichtner, Peter P; Ishikawa, Taisuke T; Wilde, Arthur A M AAM; Takahashi, Kazuhiro K; Sharma, Sanjay S; Roden, Dan M DM; Borggrefe, Martin M MM; McKeown, Pascal P PP; Shimizu, Wataru W; Horie, Minoru M; Makita, Naomasa N; Aiba, Takeshi T; Ackerman, Michael J MJ; Schwartz, Peter J PJ; Probst, Vincent V; Bezzina, Connie R CR; Behr, Elijah R ER

Publication Date: 2020-12

Variant appearance in text: SCN5A: 2729C>T; S910L

PubMed Link: 33164571

Variant Present in the following documents:

• hcg-13-e002911-s001.pdf

View BVdb publication page

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Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Walsh, Roddy R; Lahrouchi, Najim N; Tadros, Rafik R; Kyndt, Florence F; Glinge, Charlotte C; Postema, Pieter G PG; Amin, Ahmad S AS; Nannenberg, Eline A EA; Ware, James S JS; Whiffin, Nicola N; Mazzarotto, Francesco F; Škorić-Milosavljević, Doris D; Krijger, Christian C; Arbelo, Elena E; Babuty, Dominique D; Barajas-Martinez, Hector H; Beckmann, Britt M BM; Bézieau, Stéphane S; Bos, J Martijn JM; Breckpot, Jeroen J; Campuzano, Oscar O; Castelletti, Silvia S; Celen, Candan C; Clauss, Sebastian S; Corveleyn, Anniek A; Crotti, Lia L; Dagradi, Federica F; de Asmundis, Carlo C; Denjoy, Isabelle I; Dittmann, Sven S; Ellinor, Patrick T PT; Ortuño, Cristina Gil CG; Giustetto, Carla C; Gourraud, Jean-Baptiste JB; Hazeki, Daisuke D; Horie, Minoru M; Ishikawa, Taisuke T; Itoh, Hideki H; Kaneko, Yoshiaki Y; Kanters, Jørgen K JK; Kimoto, Hiroki H; Kotta, Maria-Christina MC; Krapels, Ingrid P C IPC; Kurabayashi, Masahiko M; Lazarte, Julieta J; Leenhardt, Antoine A; Loeys, Bart L BL; Lundin, Catarina C; Makiyama, Takeru T; Mansourati, Jacques J; Martins, Raphaël P RP; Mazzanti, Andrea A; Mörner, Stellan S; Napolitano, Carlo C; Ohkubo, Kimie K; Papadakis, Michael M; Rudic, Boris B; Molina, Maria Sabater MS; Sacher, Frédéric F; Sahin, Hatice H; Sarquella-Brugada, Georgia G; Sebastiano, Regina R; Sharma, Sanjay S; Sheppard, Mary N MN; Shimamoto, Keiko K; Shoemaker, M Benjamin MB; Stallmeyer, Birgit B; Steinfurt, Johannes J; Tanaka, Yuji Y; Tester, David J DJ; Usuda, Keisuke K; van der Zwaag, Paul A PA; Van Dooren, Sonia S; Van Laer, Lut L; Winbo, Annika A; Winkel, Bo G BG; Yamagata, Kenichiro K; Zumhagen, Sven S; Volders, Paul G A PGA; Lubitz, Steven A SA; Antzelevitch, Charles C; Platonov, Pyotr G PG; Odening, Katja E KE; Roden, Dan M DM; Roberts, Jason D JD; Skinner, Jonathan R JR; Tfelt-Hansen, Jacob J; van den Berg, Maarten P MP; Olesen, Morten S MS; Lambiase, Pier D PD; Borggrefe, Martin M; Hayashi, Kenshi K; Rydberg, Annika A; Nakajima, Tadashi T; Yoshinaga, Masao M; Saenen, Johan B JB; Kääb, Stefan S; Brugada, Pedro P; Robyns, Tomas T; Giachino, Daniela F DF; Ackerman, Michael J MJ; Brugada, Ramon R; Brugada, Josep J; Gimeno, Juan R JR; Hasdemir, Can C; Guicheney, Pascale P; Priori, Silvia G SG; Schulze-Bahr, Eric E; Makita, Naomasa N; Schwartz, Peter J PJ; Shimizu, Wataru W; Aiba, Takeshi T; Schott, Jean-Jacques JJ; Redon, Richard R; Ohno, Seiko S; Probst, Vincent V; , ; Behr, Elijah R ER; Barc, Julien J; Bezzina, Connie R CR

Publication Date: 2021-01

Variant appearance in text: SCN5A: 2729C>T; Ser910Leu

PubMed Link: 32893267

Variant Present in the following documents:

• 41436_2020_946_MOESM2_ESM.xlsx, sheet 9
• 41436_2020_946_MOESM2_ESM.xlsx, sheet 3

View BVdb publication page

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Reanalysis and reclassification of rare genetic variants associated with inherited arrhythmogenic syndromes.

Ebiomedicine

Campuzano, Oscar O; Sarquella-Brugada, Georgia G; Fernandez-Falgueras, Anna A; Coll, Mónica M; Iglesias, Anna A; Ferrer-Costa, Carles C; Cesar, Sergi S; Arbelo, Elena E; García-Álvarez, Ana A; Jordà, Paloma P; Toro, Rocío R; Tiron de Llano, Coloma C; Grassi, Simone S; Oliva, Antonio A; Brugada, Josep J; Brugada, Ramon R

Publication Date: 2020-04

Variant appearance in text: SCN5A: 2729C>T; Ser910Leu; rs199473175

PubMed Link: 32268277

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy.

Circulation

Mazzarotto, Francesco F; Tayal, Upasana U; Buchan, Rachel J RJ; Midwinter, William W; Wilk, Alicja A; Whiffin, Nicola N; Govind, Risha R; Mazaika, Erica E; de Marvao, Antonio A; Dawes, Timothy J W TJW; Felkin, Leanne E LE; Ahmad, Mian M; Theotokis, Pantazis I PI; Edwards, Elizabeth E; Ing, Alexander Y AY; Thomson, Kate L KL; Chan, Laura L H LLH; Sim, David D; Baksi, A John AJ; Pantazis, Antonis A; Roberts, Angharad M AM; Watkins, Hugh H; Funke, Birgit B; O'Regan, Declan P DP; Olivotto, Iacopo I; Barton, Paul J R PJR; Prasad, Sanjay K SK; Cook, Stuart A SA; Ware, James S JS; Walsh, Roddy R

Publication Date: 2020-02-04

Variant appearance in text: SCN5A: 2729C>T; Ser910Leu

PubMed Link: 31983221

Variant Present in the following documents:

• cir-141-387-s002.xlsx, sheet 3

View BVdb publication page

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Identification of 12 cancer types through genome deep learning.

Scientific Reports

Sun, Yingshuai Y; Zhu, Sitao S; Ma, Kailong K; Liu, Weiqing W; Yue, Yao Y; Hu, Gang G; Lu, Huifang H; Chen, Wenbin W

Publication Date: 2019-11-21

Variant appearance in text: SCN5A: S910L

PubMed Link: 31754222

Variant Present in the following documents:

• 41598_2019_53989_MOESM4_ESM.xlsx, sheet 8

View BVdb publication page

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Integrated multi-omics analysis of genomics, epigenomics, and transcriptomics in ovarian carcinoma.

Aging

Zheng, Mingjun M; Hu, Yuexin Y; Gou, Rui R; Wang, Jing J; Nie, Xin X; Li, Xiao X; Liu, Qing Q; Liu, Juanjuan J; Lin, Bei B

Publication Date: 2019-06-29

Variant appearance in text: SCN5A: 2729C>T

PubMed Link: 31257224

Variant Present in the following documents:

• aging-11-102047-s002.xlsx, sheet 11
• aging-11-102047-s002.xlsx, sheet 13
• aging-11-102047-s002.xlsx, sheet 12

View BVdb publication page

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The landscape of somatic mutation in sporadic Chinese colorectal cancer.

Oncotarget

Liu, Zhe Z; Yang, Chao C; Li, Xiangchun X; Luo, Wen W; Roy, Bhaskar B; Xiong, Teng T; Zhang, Xiuqing X; Yang, Huanming H; Wang, Jian J; Ye, Zhenhao Z; Chen, Yang Y; Song, Jinghe J; Ma, Shuai S; Zhou, Yong Y; Yang, Min M; Fang, Xiaodong X; Du, Jie J

Publication Date: 2018-06-08

Variant appearance in text: SCN5A: 2729C>T; S910L; rs199473175

PubMed Link: 29937994

Variant Present in the following documents:

• oncotarget-09-27412-s004.xlsx, sheet 1

View BVdb publication page

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Dysfunctional Nav1.5 channels due to SCN5A mutations.

Experimental Biology And Medicine (Maywood, N.J.)

Han, Dan D; Tan, Hui H; Sun, Chaofeng C; Li, Guoliang G

Publication Date: 2018-06

Variant appearance in text: SCN5A: S910L

PubMed Link: 29806494

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: S910L

PubMed Link: 28150151

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: LQT3: S910L

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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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: S910L

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

View BVdb publication page

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Comprehensive Genetic Characterization of a Spanish Brugada Syndrome Cohort.

Plos One

Selga, Elisabet E; Campuzano, Oscar O; Pinsach-Abuin, Mel Lina ML; Pérez-Serra, Alexandra A; Mademont-Soler, Irene I; Riuró, Helena H; Picó, Ferran F; Coll, Mònica M; Iglesias, Anna A; Pagans, Sara S; Sarquella-Brugada, Georgia G; Berne, Paola P; Benito, Begoña B; Brugada, Josep J; Porres, José M JM; López Zea, Matilde M; Castro-Urda, Víctor V; Fernández-Lozano, Ignacio I; Brugada, Ramon R

Publication Date: 2015

Variant appearance in text: SCN5A: 2729C>T; S910L

PubMed Link: 26173111

Variant Present in the following documents:

• Main text
• pone.0132888.pdf

View BVdb publication page

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A novel missense mutation, I890T, in the pore region of cardiac sodium channel causes Brugada syndrome.

Plos One

Tarradas, Anna A; Selga, Elisabet E; Beltran-Alvarez, Pedro P; Pérez-Serra, Alexandra A; Riuró, Helena H; Picó, Ferran F; Iglesias, Anna A; Campuzano, Oscar O; Castro-Urda, Víctor V; Fernández-Lozano, Ignacio I; Pérez, Guillermo J GJ; Scornik, Fabiana S FS; Brugada, Ramon R

Publication Date: 2013

Variant appearance in text: SCN5A: S910L

PubMed Link: 23308164

Variant Present in the following documents:

View BVdb publication page

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Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Nucleic Acids Research

Ryu, Gil-Mi GM; Song, Pamela P; Kim, Kyu-Won KW; Oh, Kyung-Soo KS; Park, Keun-Joon KJ; Kim, Jong Hun JH

Publication Date: 2009-03

Variant appearance in text: SCN5A: S910L

PubMed Link: 19139070

Variant Present in the following documents:

• gkn1008_nar-01723-s-2008-File009.xls, sheet 1

View BVdb publication page

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Correlations between clinical and physiological consequences of the novel mutation R878C in a highly conserved pore residue in the cardiac Na+ channel.

Acta Physiologica (Oxford, England)

Zhang, Y Y; Wang, T T; Ma, A A; Zhou, X X; Gui, J J; Wan, H H; Shi, R R; Huang, C C; Grace, A A AA; Huang, C L-H CL; Trump, D D; Zhang, H H; Zimmer, T T; Lei, M M

Publication Date: 2008-12

Variant appearance in text: SCN5A: S910L

PubMed Link: 18616619

Variant Present in the following documents:

• Main text
• aps0194-0311.pdf

View BVdb publication page

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