Publications:

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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: MYL2: 37G>A; Ala13Thr; rs104894363

PubMed Link: 36201743

Variant Present in the following documents:

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

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Programmed Exercise Attenuates Familial Hypertrophic Cardiomyopathy in Transgenic E22K Mice via Inhibition of PKC-α/NFAT Pathway.

Frontiers In Cardiovascular Medicine

Wang, Haiying H; Lin, Yuedong Y; Zhang, Ran R; Chen, Yafen Y; Ji, Wei W; Li, Shenwei S; Wang, Li L; Tan, Rubin R; Yuan, Jinxiang J

Publication Date: 2022

Variant appearance in text: MYL2: A13T

PubMed Link: 35265680

Variant Present in the following documents:

• fcvm-09-808163.pdf

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Cardiac myosin super relaxation (SRX): a perspective on fundamental biology, human disease and therapeutics.

Biology Open

Schmid, Manuel M; Toepfer, Christopher N CN

Publication Date: 2021-02-15

Variant appearance in text: MYL2: A13T

PubMed Link: 33589442

Variant Present in the following documents:

• Main text
• biolopen-10-057646.pdf

View BVdb publication page

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The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research

Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,

Publication Date: 2020-09

Variant appearance in text: MYL2: 37G>A; Ala13Thr; rs104894363

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

View BVdb publication page

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Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging.

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

Hou, Ying-Chen Claire YC; Yu, Hung-Chun HC; Martin, Rick R; Cirulli, Elizabeth T ET; Schenker-Ahmed, Natalie M NM; Hicks, Michael M; Cohen, Isaac V IV; Jönsson, Thomas J TJ; Heister, Robyn R; Napier, Lori L; Swisher, Christine Leon CL; Dominguez, Saints S; Tang, Haibao H; Li, Weizhong W; Perkins, Bradley A BA; Barea, Jaime J; Rybak, Christina C; Smith, Emily E; Duchicela, Keegan K; Doney, Michael M; Brar, Pamila P; Hernandez, Nathaniel N; Kirkness, Ewen F EF; Kahn, Andrew M AM; Venter, J Craig JC; Karow, David S DS; Caskey, C Thomas CT

Publication Date: 2020-02-11

Variant appearance in text: MYL2: 37G>A; Ala13Thr

PubMed Link: 31980526

Variant Present in the following documents:

• pnas.1909378117.sd01.xlsx, sheet 1

View BVdb publication page

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Insights into myosin regulatory and essential light chains: a focus on their roles in cardiac and skeletal muscle function, development and disease.

Journal Of Muscle Research And Cell Motility

Sitbon, Yoel H YH; Yadav, Sunil S; Kazmierczak, Katarzyna K; Szczesna-Cordary, Danuta D

Publication Date: 2020-12

Variant appearance in text: MYL2: A13T

PubMed Link: 31131433

Variant Present in the following documents:

• Main text

View BVdb publication page

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Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.

Circulation. Genomic And Precision Medicine

Ingles, Jodie J; Goldstein, Jennifer J; Thaxton, Courtney C; Caleshu, Colleen C; Corty, Edward W EW; Crowley, Stephanie B SB; Dougherty, Kristen K; Harrison, Steven M SM; McGlaughon, Jennifer J; Milko, Laura V LV; Morales, Ana A; Seifert, Bryce A BA; Strande, Natasha N; Thomson, Kate K; Peter van Tintelen, J J; Wallace, Kathleen K; Walsh, Roddy R; Wells, Quinn Q; Whiffin, Nicola N; Witkowski, Leora L; Semsarian, Christopher C; Ware, James S JS; Hershberger, Ray E RE; Funke, Birgit B

Publication Date: 2019-02

Variant appearance in text: MYL2: Ala13Thr

PubMed Link: 30681346

Variant Present in the following documents:

• hcg-12-e002460-s002.xlsx, sheet 8

View BVdb publication page

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Hypertrophy Regression With N-Acetylcysteine in Hypertrophic Cardiomyopathy (HALT-HCM): A Randomized, Placebo-Controlled, Double-Blind Pilot Study.

Circulation Research

Marian, Ali J AJ; Tan, Yanli Y; Li, Lili L; Chang, Jeffrey J; Syrris, Petros P; Hessabi, Manouchehr M; Rahbar, Mohammad H MH; Willerson, James T JT; Cheong, Benjamin Y BY; Liu, Chia-Ying CY; Kleiman, Neal S NS; Bluemke, David A DA; Nagueh, Sherif F SF

Publication Date: 2018-04-13

Variant appearance in text: MYL2: Ala13Thr

PubMed Link: 29540445

Variant Present in the following documents:

• Main text

View BVdb publication page

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Estimating the mutational load for cardiovascular diseases in Pakistani population.

Plos One

Shakeel, Muhammad M; Irfan, Muhammad M; Khan, Ishtiaq Ahmad IA

Publication Date: 2018

Variant appearance in text: rs104894363

PubMed Link: 29420653

Variant Present in the following documents:

• pone.0192446.s009.xlsx, sheet 2

View BVdb publication page

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Comparative analysis of primary versus relapse/refractory DLBCL identifies shifts in mutation spectrum.

Oncotarget

Greenawalt, Danielle M DM; Liang, Winnie S WS; Saif, Sakina S; Johnson, Justin J; Todorov, Petar P; Dulak, Austin A; Enriquez, Daniel D; Halperin, Rebecca R; Ahmed, Ambar A; Saveliev, Vladislav V; Carpten, John J; Craig, David D; Barrett, J Carl JC; Dougherty, Brian B; Zinda, Michael M; Fawell, Stephen S; Dry, Jonathan R JR; Byth, Kate K

Publication Date: 2017-11-21

Variant appearance in text: MYL2: 37G>A; A13T; rs104894363

PubMed Link: 29245897

Variant Present in the following documents:

• oncotarget-08-99237-s002.xlsx, sheet 1

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: MYL2: 37G>A; Ala13Thr

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Pseudophosphorylation of cardiac myosin regulatory light chain: a promising new tool for treatment of cardiomyopathy.

Biophysical Reviews

Yadav, Sunil S; Szczesna-Cordary, Danuta D

Publication Date: 2017-02

Variant appearance in text: MYL2: A13T

PubMed Link: 28510043

Variant Present in the following documents:

• Main text

View BVdb publication page

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Cardiac contractility, motor function, and cross-bridge kinetics in N47K-RLC mutant mice.

The Febs Journal

Wang, Li L; Kazmierczak, Katarzyna K; Yuan, Chen-Ching CC; Yadav, Sunil S; Kawai, Masataka M; Szczesna-Cordary, Danuta D

Publication Date: 2017-06

Variant appearance in text: MYL2: A13T

PubMed Link: 28467684

Variant Present in the following documents:

• Main text

View BVdb publication page

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A Potential Oligogenic Etiology of Hypertrophic Cardiomyopathy: A Classic Single-Gene Disorder.

Circulation Research

Li, Lili L; Bainbridge, Matthew Neil MN; Tan, Yanli Y; Willerson, James T JT; Marian, Ali J AJ

Publication Date: 2017-03-31

Variant appearance in text: MYL2: Ala13Thr; rs104894363

PubMed Link: 28223422

Variant Present in the following documents:

• Main text

View BVdb publication page

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Phosphorylation of the regulatory light chain of myosin in striated muscle: methodological perspectives.

European Biophysics Journal : Ebj

Yu, Haiyang H; Chakravorty, Samya S; Song, Weihua W; Ferenczi, Michael A MA

Publication Date: 2016-12

Variant appearance in text: MYL2: A13T

PubMed Link: 27084718

Variant Present in the following documents:

• Main text
• 249_2016_Article_1128.pdf

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: CMH10: A13T; rs104894363

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: MYL2: A13T

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3

View BVdb publication page

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Functions of myosin light chain-2 (MYL2) in cardiac muscle and disease.

Gene

Sheikh, Farah F; Lyon, Robert C RC; Chen, Ju J

Publication Date: 2015-09-10

Variant appearance in text: MYL2: A13T

PubMed Link: 26074085

Variant Present in the following documents:

• Main text

View BVdb publication page

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Disease variants in genomes of 44 centenarians.

Molecular Genetics & Genomic Medicine

Freudenberg-Hua, Yun Y; Freudenberg, Jan J; Vacic, Vladimir V; Abhyankar, Avinash A; Emde, Anne-Katrin AK; Ben-Avraham, Danny D; Barzilai, Nir N; Oschwald, Dayna D; Christen, Erika E; Koppel, Jeremy J; Greenwald, Blaine B; Darnell, Robert B RB; Germer, Soren S; Atzmon, Gil G; Davies, Peter P

Publication Date: 2014-09

Variant appearance in text: MYL2: A13T; rs104894363

PubMed Link: 25333069

Variant Present in the following documents:

• Main text
• mgg30002-0438.pdf

View BVdb publication page

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Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine

Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L

Publication Date: 2014-12

Variant appearance in text: MYL2: A13T

PubMed Link: 25326804

Variant Present in the following documents:

• NIHMS630249-supplement-5.xlsx, sheet 1

View BVdb publication page

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Global DNA methylation and transcriptional analyses of human ESC-derived cardiomyocytes.

Protein & Cell

Gu, Ying Y; Liu, Guang-Hui GH; Plongthongkum, Nongluk N; Benner, Christopher C; Yi, Fei F; Qu, Jing J; Suzuki, Keiichiro K; Yang, Jiping J; Zhang, Weiqi W; Li, Mo M; Montserrat, Nuria N; Crespo, Isaac I; Del Sol, Antonio A; Esteban, Concepcion Rodriguez CR; Zhang, Kun K; Izpisua Belmonte, Juan Carlos JC

Publication Date: 2014-01

Variant appearance in text: MYL2: A13T

PubMed Link: 24474197

Variant Present in the following documents:

• 13238_2013_Article_16.pdf
• 13238_2013_16_MOESM9_ESM.pdf

View BVdb publication page

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Targeted sequence capture and GS-FLX Titanium sequencing of 23 hypertrophic and dilated cardiomyopathy genes: implementation into diagnostics.

Journal Of Medical Genetics

Mook, Olaf R F OR; Haagmans, Martin A MA; Soucy, Jean-François JF; van de Meerakker, Judith B A JB; Baas, Frank F; Jakobs, Marja E ME; Hofman, Nynke N; Christiaans, Imke I; Lekanne Deprez, Ronald H RH; Mannens, Marcel M A M MM

Publication Date: 2013-09

Variant appearance in text: MYL2: 37G>A; Ala13Thr

PubMed Link: 23785128

Variant Present in the following documents:

• Main text

View BVdb publication page

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Regulatory light chain mutants linked to heart disease modify the cardiac myosin lever arm.

Biochemistry

Burghardt, Thomas P TP; Sikkink, Laura A LA

Publication Date: 2013-02-19

Variant appearance in text: MYL2: A13T

PubMed Link: 23343568

Variant Present in the following documents:

• Main text

View BVdb publication page

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The genetic landscape of high-risk neuroblastoma.

Nature Genetics

Pugh, Trevor J TJ; Morozova, Olena O; Attiyeh, Edward F EF; Asgharzadeh, Shahab S; Wei, Jun S JS; Auclair, Daniel D; Carter, Scott L SL; Cibulskis, Kristian K; Hanna, Megan M; Kiezun, Adam A; Kim, Jaegil J; Lawrence, Michael S MS; Lichenstein, Lee L; McKenna, Aaron A; Pedamallu, Chandra Sekhar CS; Ramos, Alex H AH; Shefler, Erica E; Sivachenko, Andrey A; Sougnez, Carrie C; Stewart, Chip C; Ally, Adrian A; Birol, Inanc I; Chiu, Readman R; Corbett, Richard D RD; Hirst, Martin M; Jackman, Shaun D SD; Kamoh, Baljit B; Khodabakshi, Alireza Hadj AH; Krzywinski, Martin M; Lo, Allan A; Moore, Richard A RA; Mungall, Karen L KL; Qian, Jenny J; Tam, Angela A; Thiessen, Nina N; Zhao, Yongjun Y; Cole, Kristina A KA; Diamond, Maura M; Diskin, Sharon J SJ; Mosse, Yael P YP; Wood, Andrew C AC; Ji, Lingyun L; Sposto, Richard R; Badgett, Thomas T; London, Wendy B WB; Moyer, Yvonne Y; Gastier-Foster, Julie M JM; Smith, Malcolm A MA; Guidry Auvil, Jaime M JM; Gerhard, Daniela S DS; Hogarty, Michael D MD; Jones, Steven J M SJ; Lander, Eric S ES; Gabriel, Stacey B SB; Getz, Gad G; Seeger, Robert C RC; Khan, Javed J; Marra, Marco A MA; Meyerson, Matthew M; Maris, John M JM

Publication Date: 2013-03

Variant appearance in text: MYL2: 37G>A; A13T; rs104894363

PubMed Link: 23334666

Variant Present in the following documents:

• NIHMS474900-supplement-8.xlsx, sheet 1
• NIHMS474900-supplement-8.xlsx, sheet 2

View BVdb publication page

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New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants.

European Journal Of Human Genetics : Ejhg

Andreasen, Charlotte C; Nielsen, Jonas B JB; Refsgaard, Lena L; Holst, Anders G AG; Christensen, Alex H AH; Andreasen, Laura L; Sajadieh, Ahmad A; Haunsø, Stig S; Svendsen, Jesper H JH; Olesen, Morten S MS

Publication Date: 2013-09

Variant appearance in text: MYL2: A13T

PubMed Link: 23299917

Variant Present in the following documents:

• ejhg2012283a.pdf

View BVdb publication page

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Myosin regulatory light chain mutation found in hypertrophic cardiomyopathy patients increases isometric force production in transgenic mice.

The Biochemical Journal

Kazmierczak, Katarzyna K; Muthu, Priya P; Huang, Wenrui W; Jones, Michelle M; Wang, Yingcai Y; Szczesna-Cordary, Danuta D

Publication Date: 2012-02-15

Variant appearance in text: MYL2: A13T

PubMed Link: 22091967

Variant Present in the following documents:

• Main text

View BVdb publication page

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In the thick of it: HCM-causing mutations in myosin binding proteins of the thick filament.

Circulation Research

Harris, Samantha P SP; Lyons, Ross G RG; Bezold, Kristina L KL

Publication Date: 2011-03-18

Variant appearance in text: MYL2: A13T

PubMed Link: 21415409

Variant Present in the following documents:

• Main text

View BVdb publication page

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