Publications:

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Genetic variants in Chinese patients with sporadic dilated cardiomyopathy: a cross-sectional study.

Annals Of Translational Medicine

Shen, Cheng C; Xu, Lei L; Sun, Xiaoning X; Sun, Aijun A; Ge, Junbo J

Publication Date: 2022-02

Variant appearance in text: rs41261344

PubMed Link: 35284542

Variant Present in the following documents:

• Main text
• atm-10-03-129-supplementary.pdf
• atm-10-03-129.pdf

View BVdb publication page

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Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience

Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD

Publication Date: 2022-02

Variant appearance in text: SCN5A: R1192Q; rs41261344

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7
• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 12

View BVdb publication page

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Next-generation sequencing identified novel Desmoplakin frame-shift variant in patients with Arrhythmogenic cardiomyopathy.

Bmc Cardiovascular Disorders

Lin, Xiaoping X; Ma, Yuankun Y; Cai, Zhejun Z; Wang, Qiyuan Q; Wang, Lihua L; Huo, Zhaoxia Z; Hu, Dan D; Wang, Jian'an J; Xiang, Meixiang M

Publication Date: 2020-02-11

Variant appearance in text: rs41261344

PubMed Link: 32046637

Variant Present in the following documents:

• 12872_2020_1369_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Systematic Review of the Genetics of Sudden Unexpected Death in Epilepsy: Potential Overlap With Sudden Cardiac Death and Arrhythmia-Related Genes.

Journal Of The American Heart Association

Chahal, C Anwar A CAA; Salloum, Mohammad N MN; Alahdab, Fares F; Gottwald, Joseph A JA; Tester, David J DJ; Anwer, Lucman A LA; So, Elson L EL; Murad, Mohammad Hassan MH; St Louis, Erik K EK; Ackerman, Michael J MJ; Somers, Virend K VK

Publication Date: 2020-01-07

Variant appearance in text: rs41261344

PubMed Link: 31865891

Variant Present in the following documents:

• JAH3-9-e012264-s001.pdf
• JAH3-9-e012264.pdf

View BVdb publication page

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Reappraisal of variants previously linked with sudden infant death syndrome: results from three population-based cohorts.

European Journal Of Human Genetics : Ejhg

Paludan-Müller, Christian C; Ghouse, Jonas J; Vad, Oliver B OB; Herfelt, Cecilie B CB; Lundegaard, Pia P; Ahlberg, Gustav G; Schmitt, Nicole N; Svendsen, Jesper H JH; Haunsø, Stig S; Bundgaard, Henning H; Hansen, Torben T; Kanters, Jørgen K JK; Olesen, Morten S MS

Publication Date: 2019-09

Variant appearance in text: rs41261344

PubMed Link: 31043699

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: R1192Q; rs41261344

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw.

Nature Communications

Gomes, Carolina Cavalieri CC; Gayden, Tenzin T; Bajic, Andrea A; Harraz, Osama F OF; Pratt, Jonathan J; Nikbakht, Hamid H; Bareke, Eric E; Diniz, Marina Gonçalves MG; Castro, Wagner Henriques WH; St-Onge, Pascal P; Sinnett, Daniel D; Han, HyeRim H; Rivera, Barbara B; Mikael, Leonie G LG; De Jay, Nicolas N; Kleinman, Claudia L CL; Valera, Elvis Terci ET; Bassenden, Angelia V AV; Berghuis, Albert M AM; Majewski, Jacek J; Nelson, Mark T MT; Gomez, Ricardo Santiago RS; Jabado, Nada N

Publication Date: 2018-11-01

Variant appearance in text: SCN5A: R1192Q; rs41261344

PubMed Link: 30385747

Variant Present in the following documents:

• 41467_2018_6690_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

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Sudden Unexplained Nocturnal Death Syndrome: The Hundred Years' Enigma.

Journal Of The American Heart Association

Zheng, Jingjing J; Zheng, Da D; Su, Terry T; Cheng, Jianding J

Publication Date: 2018-03-03

Variant appearance in text: SCN5A: R1192Q

PubMed Link: 29502107

Variant Present in the following documents:

• Main text

View BVdb publication page

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Findings of a 1303 Korean whole-exome sequencing study.

Experimental & Molecular Medicine

Kwak, Soo Heon SH; Chae, Jeesoo J; Choi, Seongmin S; Kim, Min Jung MJ; Choi, Murim M; Chae, Jong-Hee JH; Cho, Eun-Hae EH; Hwang, Tai Ju TJ; Jang, Se Song SS; Kim, Jong-Il JI; Park, Kyong Soo KS; Bang, Yung-Jue YJ

Publication Date: 2017-07-14

Variant appearance in text: SCN5A: R1192Q; rs41261344

PubMed Link: 28706299

Variant Present in the following documents:

• emm2017142x4.xls, sheet 1

View BVdb publication page

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Molecular investigation by whole exome sequencing revealed a high proportion of pathogenic variants among Thai victims of sudden unexpected death syndrome.

Plos One

Suktitipat, Bhoom B; Sathirareuangchai, Sakda S; Roothumnong, Ekkapong E; Thongnoppakhun, Wanna W; Wangkiratikant, Purin P; Vorasan, Nutchavadee N; Krittayaphong, Rungroj R; Pithukpakorn, Manop M; Boonyapisit, Warangkna W

Publication Date: 2017

Variant appearance in text: rs41261344

PubMed Link: 28704380

Variant Present in the following documents:

• Main text

View BVdb publication page

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SCN5A Genetic Polymorphisms Associated With Increased Defibrillator Shocks in Brugada Syndrome.

Journal Of The American Heart Association

Makarawate, Pattarapong P; Chaosuwannakit, Narumol N; Vannaprasaht, Suda S; Sahasthas, Dujdao D; Koo, Seok Hwee SH; Lee, Edmund Jon Deoon EJD; Tassaneeyakul, Wichittra W; Barajas-Martinez, Hector H; Hu, Dan D; Sawanyawisuth, Kittisak K

Publication Date: 2017-06-05

Variant appearance in text: rs41261344

PubMed Link: 28584071

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: 3575G>A; Arg1192Gln

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Identification of a novel hypertrophic cardiomyopathy-associated mutation using targeted next-generation sequencing.

International Journal Of Molecular Medicine

Zhao, Yue Y; Feng, Yue Y; Ding, Xiaoxue X; Dong, Shuwei S; Zhang, Hong H; Ding, Jiahuan J; Xia, Xueshan X

Publication Date: 2017-07

Variant appearance in text: SCN5A: 3575G>A; Arg1192Gln

PubMed Link: 28498465

Variant Present in the following documents:

• Main text

View BVdb publication page

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A mutation in the CACNA1C gene leads to early repolarization syndrome with incomplete penetrance: A Chinese family study.

Plos One

Liu, Xin X; Shen, Yang Y; Xie, Jinyan J; Bao, Huihui H; Cao, Qing Q; Wan, Rong R; Xu, Xiaoming X; Zhou, Hui H; Huang, Lin L; Xu, Zhenyan Z; Zhu, Wengen W; Hu, Jinzhu J; Cheng, Xiaoshu X; Hong, Kui K

Publication Date: 2017

Variant appearance in text: rs41261344

PubMed Link: 28493952

Variant Present in the following documents:

• Main text

View BVdb publication page

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Quinidine for Brugada syndrome: Panacea or poison?

Heartrhythm Case Reports

Hai, Jo-Jo JJ; Wong, Chun-Ka CK; Chan, Pak-Hei PH; Tse, Hung-Fat HF; Yung, Tak-Cheung TC; Siu, Chung-Wah CW

Publication Date: 2016-11

Variant appearance in text: SCN5A: R1192Q

PubMed Link: 28491743

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Early somatic mosaicism is a rare cause of long-QT syndrome.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Priest, James Rush JR; Gawad, Charles C; Kahlig, Kristopher M KM; Yu, Joseph K JK; O'Hara, Thomas T; Boyle, Patrick M PM; Rajamani, Sridharan S; Clark, Michael J MJ; Garcia, Sarah T K ST; Ceresnak, Scott S; Harris, Jason J; Boyle, Sean S; Dewey, Frederick E FE; Malloy-Walton, Lindsey L; Dunn, Kyla K; Grove, Megan M; Perez, Marco V MV; Neff, Norma F NF; Chen, Richard R; Maeda, Katsuhide K; Dubin, Anne A; Belardinelli, Luiz L; West, John J; Antolik, Christian C; Macaya, Daniela D; Quertermous, Thomas T; Trayanova, Natalia A NA; Quake, Stephen R SR; Ashley, Euan A EA

Publication Date: 2016-10-11

Variant appearance in text: SCN5A: 3575G>A; rs41261344

PubMed Link: 27681629

Variant Present in the following documents:

• Main text

View BVdb publication page

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Molecular analysis of urothelial cancer cell lines for modeling tumor biology and drug response.

Oncogene

Nickerson, M L ML; Witte, N N; Im, K M KM; Turan, S S; Owens, C C; Misner, K K; Tsang, S X SX; Cai, Z Z; Wu, S S; Dean, M M; Costello, J C JC; Theodorescu, D D

Publication Date: 2017-01-05

Variant appearance in text: rs41261344

PubMed Link: 27270441

Variant Present in the following documents:

• onc2016172x3.xls, sheet 3

View BVdb publication page

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Epilepsy-related sudden unexpected death: targeted molecular analysis of inherited heart disease genes using next-generation DNA sequencing.

Brain Pathology (Zurich, Switzerland)

Hata, Yukiko Y; Yoshida, Koji K; Kinoshita, Koshi K; Nishida, Naoki N

Publication Date: 2017-05

Variant appearance in text: rs41261344

PubMed Link: 27135274

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: rs41261344

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Multiple lithium-dependent Brugada syndrome unmasking events in a bipolar patient.

Clinical Case Reports

Crawford, Rebecca R RR; Higdon, Ashlee N AN; Casey, David B DB; Good, David E DE; Mungrue, Imran N IN

Publication Date: 2015-01

Variant appearance in text: rs41261344

PubMed Link: 25678966

Variant Present in the following documents:

• Main text
• ccr30003-0014.pdf

View BVdb publication page

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The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experience.

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

Lawrence, Lauren L; Sincan, Murat M; Markello, Thomas T; Adams, David R DR; Gill, Fred F; Godfrey, Rena R; Golas, Gretchen G; Groden, Catherine C; Landis, Dennis D; Nehrebecky, Michele M; Park, Grace G; Soldatos, Ariane A; Tifft, Cynthia C; Toro, Camilo C; Wahl, Colleen C; Wolfe, Lynne L; Gahl, William A WA; Boerkoel, Cornelius F CF

Publication Date: 2014-10

Variant appearance in text: SCN5A: 3575G>A; R1192Q; rs41261344

PubMed Link: 24784157

Variant Present in the following documents:

• Main text
• nihms571296.pdf

View BVdb publication page

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Utilizing multiple in silico analyses to identify putative causal SCN5A variants in Brugada syndrome.

Scientific Reports

Juang, Jyh-Ming Jimmy JM; Lu, Tzu-Pin TP; Lai, Liang-Chuan LC; Hsueh, Chia-Hsiang CH; Liu, Yen-Bin YB; Tsai, Chia-Ti CT; Lin, Lian-Yu LY; Yu, Chih-Chieh CC; Hwang, Juey-Jen JJ; Chiang, Fu-Tien FT; Yeh, Sherri Shih-Fan SS; Chen, Wen-Pin WP; Chuang, Eric Y EY; Lai, Ling-Ping LP; Lin, Jiunn-Lee JL

Publication Date: 2014-01-27

Variant appearance in text: rs41261344

PubMed Link: 24463578

Variant Present in the following documents:

• Main text
• srep03850.pdf

View BVdb publication page

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PATH-SCAN: a reporting tool for identifying clinically actionable variants.

Pacific Symposium On Biocomputing. Pacific Symposium On Biocomputing

Daneshjou, Roxana R; Zappala, Zachary Z; Kukurba, Kim K; Boyle, Sean M SM; Ormond, Kelly E KE; Klein, Teri E TE; Snyder, Michael M; Bustamante, Carlos D CD; Altman, Russ B RB; Montgomery, Stephen B SB

Publication Date: 2014

Variant appearance in text: rs41261344

PubMed Link: 24297550

Variant Present in the following documents:

• Main text

View BVdb publication page

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Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.

Human Genetics

Cooper, David N DN; Krawczak, Michael M; Polychronakos, Constantin C; Tyler-Smith, Chris C; Kehrer-Sawatzki, Hildegard H

Publication Date: 2013-10

Variant appearance in text: rs41261344

PubMed Link: 23820649

Variant Present in the following documents:

• Main text

View BVdb publication page

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A case of Long QT syndrome type 3 aggravated by beta-blockers and alleviated by mexiletine: the role of epinephrine provocation test.

Yonsei Medical Journal

Park, Junbeom J; Kim, Sook Kyoung SK; Pak, Hui-Nam HN

Publication Date: 2013-03-01

Variant appearance in text: SCN5A: R1192Q; rs41261344

PubMed Link: 23364992

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic Analysis of SCN5A in Korean Patients Associated with Atrioventricular Conduction Block.

Genomics & Informatics

Park, Hyoung Seob HS; Kim, Yoon Nyun YN; Lee, Young Soo YS; Jung, Byung Chun BC; Lee, Sang Hee SH; Shin, Dong Gu DG; Cho, Yongkeun Y; Bae, Myung Hwan MH; Han, Sang Mi SM; Lee, Myung Hoon MH

Publication Date: 2012-06

Variant appearance in text: rs41261344

PubMed Link: 23105938

Variant Present in the following documents:

• Main text
• gni-10-110.pdf

View BVdb publication page

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