Publications:

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Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.

Nature Communications

Shah, Jennifer B JB; Pueschl, Dana D; Wubbenhorst, Bradley B; Fan, Mengyao M; Pluta, John J; D'Andrea, Kurt K; Hubert, Anna P AP; Shilan, Jake S JS; Zhou, Wenting W; Kraya, Adam A AA; Llop Guevara, Alba A; Ruan, Catherine C; Serra, Violeta V; Balmaña, Judith J; Feldman, Michael M; Morin, Pat J PJ; Nayak, Anupma A; Maxwell, Kara N KN; Domchek, Susan M SM; Nathanson, Katherine L KL

Publication Date: 2022-11-07

Variant appearance in text: SCN5A: R523C

PubMed Link: 36344544

Variant Present in the following documents:

• 41467_2022_34523_MOESM4_ESM.xlsx, sheet 3

View BVdb publication page

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GENETIC SUBGROUPS INFORM ON PATHOBIOLOGY IN ADULT AND PEDIATRIC BURKITT LYMPHOMA.

Blood

Thomas, Nicole N; Dreval, Kostiantyn K; Gerhard, Daniela S DS; Hilton, Laura K LK; Abramson, Jeremy S JS; Barta, Stefan K SK; Bartlett, Nancy L NL; Bethony, Jeffrey J; Bhatia, Kishor K; Bowen, Jay J; Bryan, Anthony C AC; Cesarman, Ethel E; Casper, Corey C; Cruz, Manuela M; Dyer, Maureen M; Farinha, Pedro P; Gastier-Foster, Julie J; Gerrie, Alina S AS; Grande, Bruno B; Greiner, Timothy C TC; Griner, Nicholas N; Gross, Thomas G TG; Harris, Nancy Lee NL; Irvin, John D JD; Jaffe, Elaine S ES; Henry, David D; Huppi, Rebecca Liddell RL; Leal, Fabio E FE; Lee, Michael M; Martin, Jean Paul JP; Martin, Marie-Reine MR; Mbulaiteye, Sam M SM; Mitsuyasu, Ronald R; Morris, Vivian V; Mullighan, Charles G CG; Mungall, Andrew J AJ; Mungall, Karen K; Mutyaba, Innocent I; Nokta, Mostafa M; Namirembe, Constance C; Noy, Ariela A; Ogwang, Martin David MD; Omoding, Abrahams A; Orem, Jackson J; Ott, German G; Petrello, Hilary H; Pittaluga, Stefania S; Phelan, James D JD; Ramos, Juan Carlos JC; Ratner, Lee L; Reynolds, Steven J SJ; Rubinstein, Paul G PG; Sissolak, Gerhard G; Slack, Graham W GW; Soudi, Shaghayegh S; Swerdlow, Steven Howard SH; Traverse-Glehen, Alexandra A; Wilson, Wyndham W; Wong, Jasper Chun Hei JCH; Yarchoan, Robert R; ZenKlusen, Jean C JC; Marra, Marco A MA; Staudt, Louis M LM; Scott, David W DW; Morin, Ryan D RD

Publication Date: 2022-10-06

Variant appearance in text: SCN5A: Arg523Cys; rs199473119

PubMed Link: 36201743

Variant Present in the following documents:

• BLOOD_BLD-2022-016534-mmc1.xlsx, sheet 6

View BVdb publication page

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Determining the Likelihood of Disease Pathogenicity Among Incidentally Identified Genetic Variants in Rare Dilated Cardiomyopathy-Associated Genes.

Journal Of The American Heart Association

Yang, Qixin Q; Berkman, Amy M AM; Ezekian, Jordan E JE; Rosamilia, Michael M; Rosenfeld, Jill A JA; Liu, Pengfei P; Landstrom, Andrew P AP

Publication Date: 2022-10-04

Variant appearance in text: SCN5A: 1567C>T; R523C

PubMed Link: 36129056

Variant Present in the following documents:

• JAH3-11-e025257-s001.pdf
• JAH3-11-e025257.pdf

View BVdb publication page

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Scalable multiplex co-fractionation/mass spectrometry platform for accelerated protein interactome discovery.

Nature Communications

Havugimana, Pierre C PC; Goel, Raghuveera Kumar RK; Phanse, Sadhna S; Youssef, Ahmed A; Padhorny, Dzmitry D; Kotelnikov, Sergei S; Kozakov, Dima D; Emili, Andrew A

Publication Date: 2022-07-13

Variant appearance in text: SCN5A: 1567C>T

PubMed Link: 35831314

Variant Present in the following documents:

• 41467_2022_31809_MOESM8_ESM.xlsx, sheet 3

View BVdb publication page

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Are Variants Causing Cardiac Arrhythmia Risk Factors in Sudden Unexpected Death in Epilepsy?

Frontiers In Neurology

Bleakley, Lauren E LE; Soh, Ming S MS; Bagnall, Richard D RD; Sadleir, Lynette G LG; Gooley, Samuel S; Semsarian, Christopher C; Scheffer, Ingrid E IE; Berkovic, Samuel F SF; Reid, Christopher A CA

Publication Date: 2020

Variant appearance in text: SCN5A: Arg523Cys

PubMed Link: 33013630

Variant Present in the following documents:

• Main text
• fneur-11-00925.pdf

View BVdb publication page

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PRIORI-T: A tool for rare disease gene prioritization using MEDLINE.

Plos One

Rao, Aditya A; Joseph, Thomas T; Saipradeep, Vangala G VG; Kotte, Sujatha S; Sivadasan, Naveen N; Srinivasan, Rajgopal R

Publication Date: 2020

Variant appearance in text: SCN5A: Arg523Cys

PubMed Link: 32315351

Variant Present in the following documents:

• pone.0231728.s001.pdf

View BVdb publication page

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Wolff-Parkinson-White syndrome: De novo variants and evidence for mutational burden in genes associated with atrial fibrillation.

American Journal Of Medical Genetics. Part A

Coban-Akdemir, Zeynep H ZH; Charng, Wu-Lin WL; Azamian, Mahshid M; Paine, Ingrid S IS; Punetha, Jaya J; Grochowski, Christopher M CM; Gambin, Tomasz T; Valdes, Santiago O SO; Cannon, Bryan B; Zapata, Gladys G; Hernandez, Patricia P PP; Jhangiani, Shalini S; Doddapaneni, Harsha H; Hu, Jianhong J; Boricha, Fatima F; Muzny, Donna M DM; Boerwinkle, Eric E; Yang, Yaping Y; Gibbs, Richard A RA; Posey, Jennifer E JE; Wehrens, Xander H T XHT; Belmont, John W JW; Kim, Jeffrey J JJ; Miyake, Christina Y CY; Lupski, James R JR; Lalani, Seema R SR

Publication Date: 2020-06

Variant appearance in text: SCN5A: 1567C>T; Arg523Cys

PubMed Link: 32233023

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: R523C

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Phenotype-driven gene prioritization for rare diseases using graph convolution on heterogeneous networks.

Bmc Medical Genomics

Rao, Aditya A; Vg, Saipradeep S; Joseph, Thomas T; Kotte, Sujatha S; Sivadasan, Naveen N; Srinivasan, Rajgopal R

Publication Date: 2018-07-06

Variant appearance in text: SCN5A: Arg523Cys

PubMed Link: 29980210

Variant Present in the following documents:

• 12920_2018_372_MOESM1_ESM.pdf

View BVdb publication page

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Molecular expression of multiple Nav1.5 splice variants in the frontal lobe of the human brain.

International Journal Of Molecular Medicine

Wang, Jun J; Ou, Shao-Wu SW; Zhang, Zhi-Yong ZY; Qiu, Bo B; Wang, Yun-Jie YJ

Publication Date: 2018-02

Variant appearance in text: SCN5A: R523C

PubMed Link: 29207052

Variant Present in the following documents:

• Main text
• ijmm-41-02-0915.pdf

View BVdb publication page

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Distribution and function of voltage-gated sodium channels in the nervous system.

Channels (Austin, Tex.)

Wang, Jun J; Ou, Shao-Wu SW; Wang, Yun-Jie YJ

Publication Date: 2017-11-02

Variant appearance in text: Nav1.5: R523C

PubMed Link: 28922053

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic Basis of Sudden Unexpected Death in Epilepsy.

Frontiers In Neurology

Bagnall, Richard D RD; Crompton, Douglas E DE; Semsarian, Christopher C

Publication Date: 2017

Variant appearance in text: SCN5A: Arg523Cys

PubMed Link: 28775708

Variant Present in the following documents:

• Main text
• fneur-08-00348.pdf

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: 1567C>T; Arg523Cys

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Mechanisms of sudden unexplained death in epilepsy.

Current Opinion In Neurology

Goldman, Alica M AM

Publication Date: 2015-04

Variant appearance in text: SCN5A: R523C

PubMed Link: 25734955

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genomic biomarkers of SUDEP in brain and heart.

Epilepsy & Behavior : E&B

Glasscock, Edward E

Publication Date: 2014-09

Variant appearance in text: SCN5A: R523C

PubMed Link: 24139807

Variant Present in the following documents:

• Main text

View BVdb publication page

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Post-mortem review and genetic analysis of sudden unexpected death in epilepsy (SUDEP) cases.

Brain Pathology (Zurich, Switzerland)

Tu, Emily E; Bagnall, Richard D RD; Duflou, Johan J; Semsarian, Christopher C

Publication Date: 2011-03

Variant appearance in text: SCN5A: Arg523Cys

PubMed Link: 20875080

Variant Present in the following documents:

• Main text

View BVdb publication page

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