Publications:

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Arrhythmic Risk Stratification among Patients with Hypertrophic Cardiomyopathy.

Journal Of Clinical Medicine

Santoro, Francesco F; Mango, Federica F; Mallardi, Adriana A; D'Alessandro, Damiano D; Casavecchia, Grazia G; Gravina, Matteo M; Correale, Michele M; Brunetti, Natale Daniele ND

Publication Date: 2023-05-10

Variant appearance in text: MYBPC3: E334K

PubMed Link: 37240503

Variant Present in the following documents:

• jcm-12-03397.pdf

View BVdb publication page

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Integrated proteogenomic characterization across major histological types of pituitary neuroendocrine tumors.

Cell Research

Zhang, Fan F; Zhang, Qilin Q; Zhu, Jiajun J; Yao, Boyuan B; Ma, Chi C; Qiao, Nidan N; He, Shiman S; Ye, Zhao Z; Wang, Yunzhi Y; Han, Rui R; Feng, Jinwen J; Wang, Yongfei Y; Qin, Zhaoyu Z; Ma, Zengyi Z; Li, Kai K; Zhang, Yichao Y; Tian, Sha S; Chen, Zhengyuan Z; Tan, Subei S; Wu, Yue Y; Ran, Peng P; Wang, Ye Y; Ding, Chen C; Zhao, Yao Y

Publication Date: 2022-12

Variant appearance in text: MYBPC3: 1000G>A; E334K; rs573916965

PubMed Link: 36307579

Variant Present in the following documents:

• 41422_2022_736_MOESM10_ESM.xlsx, sheet 3

View BVdb publication page

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A 9-LncRNA Signature for Predicting Prognosis and Immune Response in Diffuse Large B-Cell Lymphoma.

Frontiers In Immunology

Wang, Xiaoxuan X; Lu, Yaxiao Y; Liu, Ziyi Z; Zhang, Yidan Y; He, You Y; Sun, Cong C; Li, Lanfang L; Zhai, Qiongli Q; Meng, Bin B; Ren, Xiubao X; Wu, Xudong X; Zhang, Huilai H; Wang, Xianhuo X

Publication Date: 2022

Variant appearance in text: MYBPC3: 1000G>A; Glu334Lys

PubMed Link: 35874768

Variant Present in the following documents:

• DataSheet_1.xlsx, sheet 2

View BVdb publication page

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Clinical characteristics and survival of children with hypertrophic cardiomyopathy in China: A multicentre retrospective cohort study.

Eclinicalmedicine

Chan, Wenxiu W; Yang, Shiwei S; Wang, Jian J; Tong, Shilu S; Lin, Minyin M; Lu, Pengtao P; Yao, Ruen R; Wu, Lanping L; Chen, Lijun L; Guo, Ying Y; Shen, Jie J; Liu, Tingliang T; Li, Fen F; Chen, Huiwen H; Zhang, Hao H; Wang, Shushui S; Fu, Lijun L

Publication Date: 2022-07

Variant appearance in text: MYBPC3: 1000G>A; Glu334Lys

PubMed Link: 35747179

Variant Present in the following documents:

• mmc1.pdf

View BVdb publication page

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Genetic Insights into Primary Restrictive Cardiomyopathy.

Journal Of Clinical Medicine

Brodehl, Andreas A; Gerull, Brenda B

Publication Date: 2022-04-08

Variant appearance in text: MYBPC3: E334K

PubMed Link: 35456187

Variant Present in the following documents:

• Main text
• jcm-11-02094.pdf

View BVdb publication page

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PIM1 genetic alterations associated with distinct molecular profiles, phenotypes and drug responses in diffuse large B-cell lymphoma.

Clinical And Translational Medicine

Zhang, Huilai H; Lu, Yaxiao Y; Zhang, Tingting T; Guan, Qingpei Q; Wang, Xiaoxuan X; Guo, Yixian Y; Li, Lanfang L; Qiu, Lihua L; Qian, Zhengzi Z; Zhou, Shiyong S; Gong, Wenchen W; Meng, Bin B; Ren, Xiubao X; Wang, Xianhuo X

Publication Date: 2022-04

Variant appearance in text: MYBPC3: E334K

PubMed Link: 35415904

Variant Present in the following documents:

• CTM2-12-e808-s003.xlsx, sheet 2

View BVdb publication page

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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: MYBPC3: E334K

PubMed Link: 35284542

Variant Present in the following documents:

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

View BVdb publication page

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Actionable secondary findings in the 73 ACMG-recommended genes in 1559 Thai exomes.

Journal Of Human Genetics

Chetruengchai, Wanna W; Shotelersuk, Vorasuk V

Publication Date: 2022-03

Variant appearance in text: MYBPC3: 1000G>A; Glu334Lys

PubMed Link: 34621001

Variant Present in the following documents:

• nihms-1795698.pdf

View BVdb publication page

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DNA Methylation, Deamination, and Translesion Synthesis Combine to Generate Footprint Mutations in Cancer Driver Genes in B-Cell Derived Lymphomas and Other Cancers.

Frontiers In Genetics

Rogozin, Igor B IB; Roche-Lima, Abiel A; Tyryshkin, Kathrin K; Carrasquillo-Carrión, Kelvin K; Lada, Artem G AG; Poliakov, Lennard Y LY; Schwartz, Elena E; Saura, Andreu A; Yurchenko, Vyacheslav V; Cooper, David N DN; Panchenko, Anna R AR; Pavlov, Youri I YI

Publication Date: 2021

Variant appearance in text: MYBPC3: E334K

PubMed Link: 34093666

Variant Present in the following documents:

• Data_Sheet_3.xls, sheet 1

View BVdb publication page

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Rare variants discovery by extensive whole-genome sequencing of the Han Chinese population in Taiwan: Applications to cardiovascular medicine.

Journal Of Advanced Research

Juang, Jyh-Ming Jimmy JJ; Lu, Tzu-Pin TP; Su, Ming-Wei MW; Lin, Chien-Wei CW; Yang, Jenn-Hwai JH; Chu, Hou-Wei HW; Chen, Chien-Hsiun CH; Hsiao, Yi-Wen YW; Lee, Chien-Yueh CY; Chiang, Li-Mei LM; Yu, Qi-You QY; Hsiao, Chuhsing Kate CK; Chen, Ching-Yu Julius CJ; Wu, Pei-Ei PE; Pai, Chien-Hua CH; Chuang, Eric Y EY; Shen, Chen-Yang CY

Publication Date: 2021-05

Variant appearance in text: rs573916965

PubMed Link: 34026292

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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A high-throughput fluorescence lifetime-based assay to detect binding of myosin-binding protein C to F-actin.

The Journal Of General Physiology

Bunch, Thomas A TA; Lepak, Victoria C VC; Bortz, Kellan M KM; Colson, Brett A BA

Publication Date: 2021-03-01

Variant appearance in text: cMyBP-C: E334K

PubMed Link: 33600558

Variant Present in the following documents:

• Main text
• JGP_202012707.pdf

View BVdb publication page

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Genetic Restrictive Cardiomyopathy: Causes and Consequences-An Integrative Approach.

International Journal Of Molecular Sciences

Cimiotti, Diana D; Budde, Heidi H; Hassoun, Roua R; Jaquet, Kornelia K

Publication Date: 2021-01-08

Variant appearance in text: cMyBP-C: E334K

PubMed Link: 33429969

Variant Present in the following documents:

• Main text
• ijms-22-00558.pdf

View BVdb publication page

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Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics

Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM

Publication Date: 2020-12

Variant appearance in text: MYBPC3: 1000G>A; E334K

PubMed Link: 33230298

Variant Present in the following documents:

• NIHMS1637640-supplement-SuppData1.xlsx, sheet 1

View BVdb publication page

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Spatial and Functional Distribution of MYBPC3 Pathogenic Variants and Clinical Outcomes in Patients With Hypertrophic Cardiomyopathy.

Circulation. Genomic And Precision Medicine

Helms, Adam S AS; Thompson, Andrea D AD; Glazier, Amelia A AA; Hafeez, Neha N; Kabani, Samat S; Rodriguez, Juliani J; Yob, Jaime M JM; Woolcock, Helen H; Mazzarotto, Francesco F; Lakdawala, Neal K NK; Wittekind, Samuel G SG; Pereira, Alexandre C AC; Jacoby, Daniel L DL; Colan, Steven D SD; Ashley, Euan A EA; Saberi, Sara S; Ware, James S JS; Ingles, Jodie J; Semsarian, Christopher C; Michels, Michelle M; Olivotto, Iacopo I; Ho, Carolyn Y CY; Day, Sharlene M SM

Publication Date: 2020-10

Variant appearance in text: MYBPC3: 1000G>A; Glu334Lys

PubMed Link: 32841044

Variant Present in the following documents:

• hcg-13-396-s001.pdf

View BVdb publication page

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Epigenomic and genomic analysis of transcriptome modulation in skin cutaneous melanoma.

Aging

Chen, Wuzhen W; Cheng, Pu P; Jiang, Jingxin J; Ren, Yunqing Y; Wu, Dang D; Xue, Dan D

Publication Date: 2020-07-07

Variant appearance in text: MYBPC3: 1000G>A

PubMed Link: 32639949

Variant Present in the following documents:

• aging-12-103115-s013..xlsx, sheet 1

View BVdb publication page

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Genotype-Related Clinical Characteristics and Myocardial Fibrosis and their Association with Prognosis in Hypertrophic Cardiomyopathy.

Journal Of Clinical Medicine

Kim, Hyung Yoon HY; Park, Jong Eun JE; Lee, Sang-Chol SC; Jeon, Eun-Seok ES; On, Young Keun YK; Kim, Sung Mok SM; Choe, Yeon Hyeon YH; Ki, Chang-Seok CS; Kim, Jong-Won JW; Kim, Kye Hun KH

Publication Date: 2020-06-01

Variant appearance in text: MYBPC3: 1000G>A; Glu334Lys

PubMed Link: 32492895

Variant Present in the following documents:

• Main text
• jcm-09-01671.pdf

View BVdb publication page

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Genetics of inherited cardiomyopathies in Africa.

Cardiovascular Diagnosis And Therapy

Shaboodien, Gasnat G; Spracklen, Timothy F TF; Kamuli, Stephen S; Ndibangwi, Polycarp P; Van Niekerk, Carla C; Ntusi, Ntobeko A B NAB

Publication Date: 2020-04

Variant appearance in text: MYBPC3: E334K

PubMed Link: 32420109

Variant Present in the following documents:

• Main text

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: MYBPC3: 1000G>A; Glu334Lys; rs573916965

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: MYBPC3: 1000G>A; Glu334Lys

PubMed Link: 31980526

Variant Present in the following documents:

• pnas.1909378117.sd01.xlsx, sheet 1

View BVdb publication page

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Chromosomal microarray and whole-exome sequence analysis in Taiwanese patients with autism spectrum disorder.

Molecular Genetics & Genomic Medicine

Chang, Ya-Sian YS; Lin, Chien-Yu CY; Huang, Hsi-Yuan HY; Chang, Jan-Gowth JG; Kuo, Haung-Tsung HT

Publication Date: 2019-12

Variant appearance in text: MYBPC3: 1000G>A; E334K

PubMed Link: 31595719

Variant Present in the following documents:

• MGG3-7-e996.pdf

View BVdb publication page

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Clinicopathological and Genetic Profiles of Cases with Myocytes Disarray-Investigation for Establishing the Autopsy Diagnostic Criteria for Hypertrophic Cardiomyopathy.

Journal Of Clinical Medicine

Hata, Yukiko Y; Ichimata, Shojiro S; Yamaguchi, Yoshiaki Y; Hirono, Keiichi K; Oku, Yuko Y; Ichida, Fukiko F; Nishida, Naoki N

Publication Date: 2019-04-05

Variant appearance in text: MYBPC3: E334K

PubMed Link: 30959811

Variant Present in the following documents:

• Main text
• jcm-08-00463.pdf
• jcm-08-00463-s001.pdf

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: MYBPC3: 1000G>A; Glu334Lys; rs573916965

PubMed Link: 30681346

Variant Present in the following documents:

• hcg-12-e002460-s002.xlsx, sheet 8

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: MYBPC3: E334K

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Whole-exon sequencing of human myeloma cell lines shows mutations related to myeloma patients at relapse with major hits in the DNA regulation and repair pathways.

Journal Of Hematology & Oncology

Tessoulin, Benoît B; Moreau-Aubry, Agnès A; Descamps, Géraldine G; Gomez-Bougie, Patricia P; Maïga, Sophie S; Gaignard, Alban A; Chiron, David D; Ménoret, Emmanuelle E; Le Gouill, Steven S; Moreau, Philippe P; Amiot, Martine M; Pellat-Deceunynck, Catherine C

Publication Date: 2018-12-13

Variant appearance in text: MYBPC3: 1000G>A; E334K; rs573916965

PubMed Link: 30545397

Variant Present in the following documents:

• 13045_2018_679_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Molecular analysis of inherited cardiomyopathy using next generation semiconductor sequencing technologies.

Journal Of Translational Medicine

Lu, Chaoxia C; Wu, Wei W; Liu, Fang F; Yang, Kunqi K; Li, Jiacheng J; Liu, Yaping Y; Wang, Rongrong R; Si, Nuo N; Gao, Peng P; Liu, Yongtai Y; Zhang, Shuyang S; Zhang, Xue X

Publication Date: 2018-08-30

Variant appearance in text: MYBPC3: E334K; rs573916965

PubMed Link: 30165862

Variant Present in the following documents:

• 12967_2018_1605_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Point mutations in the tri-helix bundle of the M-domain of cardiac myosin binding protein-C influence systolic duration and delay cardiac relaxation.

Journal Of Molecular And Cellular Cardiology

van Dijk, Sabine J SJ; Kooiker, Kristina B KB; Napierski, Nathaniel C NC; Touma, Katia D KD; Mazzalupo, Stacy S; Harris, Samantha P SP

Publication Date: 2018-06

Variant appearance in text: cMyBP-C: E334K

PubMed Link: 29729251

Variant Present in the following documents:

• Main text

View BVdb publication page

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Whole-exome Sequencing Helps the Diagnosis and Treatment in Children with Neurodevelopmental Delay Accompanied Unexplained Dyspnea.

Scientific Reports

Tong, Wenjia W; Wang, Yajian Y; Lu, Yun Y; Ye, Tongsheng T; Song, Conglei C; Xu, Yuanyuan Y; Li, Min M; Ding, Jie J; Duan, Yuanyuan Y; Zhang, Le L; Gu, Weiyue W; Zhao, Xiaoling X; Yang, Xiu-An XA; Jin, Danqun D

Publication Date: 2018-03-26

Variant appearance in text: MYBPC3: 1000G>A; E334K; rs573916965

PubMed Link: 29581464

Variant Present in the following documents:

• 41598_2018_23503_MOESM1_ESM.xls, sheet 7

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: MYBPC3: Glu334Lys

PubMed Link: 29540445

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: MYBPC3: E334K; rs573916965

PubMed Link: 28706299

Variant Present in the following documents:

• emm2017142x4.xls, 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: MYBPC3: 1000G>A; Glu334Lys

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Using high-resolution variant frequencies to empower clinical genome interpretation.

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

Whiffin, Nicola N; Minikel, Eric E; Walsh, Roddy R; O'Donnell-Luria, Anne H AH; Karczewski, Konrad K; Ing, Alexander Y AY; Barton, Paul J R PJR; Funke, Birgit B; Cook, Stuart A SA; MacArthur, Daniel D; Ware, James S JS

Publication Date: 2017-10

Variant appearance in text: MYBPC3: 1000G>A

PubMed Link: 28518168

Variant Present in the following documents:

• gim201726x1.pdf

View BVdb publication page

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The clinical features, outcomes and genetic characteristics of hypertrophic cardiomyopathy patients with severe right ventricular hypertrophy.

Plos One

Guo, Xiying X; Fan, Chaomei C; Tian, Lei L; Liu, Yanling Y; Wang, Hongyue H; Zhao, Shihua S; Duan, Fujian F; Zhang, Xiuling X; Zhao, Xing X; Wang, Fengqi F; Zhu, Hongguang H; Lin, Aiqing A; Wu, Xia X; Li, Yishi Y

Publication Date: 2017

Variant appearance in text: MYBPC3: E334K

PubMed Link: 28323875

Variant Present in the following documents:

• Main text
• pone.0174118.pdf

View BVdb publication page

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Clinical features, spectrum of causal genetic mutations and outcome of hypertrophic cardiomyopathy in South Africans.

Cardiovascular Journal Of Africa

Ntusi, Ntobeko A NA; Shaboodien, Gasnat G; Badri, Motasim M; Gumedze, Freedom F; Mayosi, Bongani M BM

Publication Date: 2016

Variant appearance in text: MYBPC3: 1000G>A; E334K

PubMed Link: 27841901

Variant Present in the following documents:

• Main text
• cvja-27-152.pdf

View BVdb publication page

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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: MYBPC3: 1000G>A; E334K

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

View BVdb publication page

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Novel Phenotype-Genotype Correlations of Restrictive Cardiomyopathy With Myosin-Binding Protein C (MYBPC3) Gene Mutations Tested by Next-Generation Sequencing.

Journal Of The American Heart Association

Wu, Wei W; Lu, Chao-Xia CX; Wang, Yi-Ning YN; Liu, Fang F; Chen, Wei W; Liu, Yong-Tai YT; Han, Ye-Chen YC; Cao, Jian J; Zhang, Shu-Yang SY; Zhang, Xue X

Publication Date: 2015-07-10

Variant appearance in text: MYBPC3: 1000G>A; E334K

PubMed Link: 26163040

Variant Present in the following documents:

• Main text

View BVdb publication page

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Screening Mutations of MYBPC3 in 114 Unrelated Patients with Hypertrophic Cardiomyopathy by Targeted Capture and Next-generation Sequencing.

Scientific Reports

Liu, Xuxia X; Jiang, Tengyong T; Piao, Chunmei C; Li, Xiaoyan X; Guo, Jun J; Zheng, Shuai S; Zhang, Xiaoping X; Cai, Tao T; Du, Jie J

Publication Date: 2015-06-19

Variant appearance in text: MYBPC3: E334K

PubMed Link: 26090888

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genomic characterization of a large panel of patient-derived hepatocellular carcinoma xenograft tumor models for preclinical development.

Oncotarget

Gu, Qingyang Q; Zhang, Bin B; Sun, Hongye H; Xu, Qiang Q; Tan, Yexiong Y; Wang, Guan G; Luo, Qin Q; Xu, Weiguo W; Yang, Shuqun S; Li, Jian J; Fu, Jing J; Chen, Lei L; Yuan, Shengxian S; Liang, Guibai G; Ji, Qunsheng Q; Chen, Shu-Hui SH; Chan, Chi-Chung CC; Zhou, Weiping W; Xu, Xiaowei X; Wang, Hongyang H; Fang, Douglas D DD

Publication Date: 2015-08-21

Variant appearance in text: MYBPC3: E334K

PubMed Link: 26062443

Variant Present in the following documents:

• oncotarget-06-20160-s004.xlsx, sheet 1

View BVdb publication page

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Clinical phenotype and outcome of hypertrophic cardiomyopathy associated with thin-filament gene mutations.

Journal Of The American College Of Cardiology

Coppini, Raffaele R; Ho, Carolyn Y CY; Ashley, Euan E; Day, Sharlene S; Ferrantini, Cecilia C; Girolami, Francesca F; Tomberli, Benedetta B; Bardi, Sara S; Torricelli, Francesca F; Cecchi, Franco F; Mugelli, Alessandro A; Poggesi, Corrado C; Tardiff, Jil J; Olivotto, Iacopo I

Publication Date: 2014-12-23

Variant appearance in text: MYBPC3: 1000G>A; Glu334Lys

PubMed Link: 25524337

Variant Present in the following documents:

• mmc1.pdf

View BVdb publication page

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Rare variants in genes encoding MuRF1 and MuRF2 are modifiers of hypertrophic cardiomyopathy.

International Journal Of Molecular Sciences

Su, Ming M; Wang, Jizheng J; Kang, Lianming L; Wang, Yilu Y; Zou, Yubao Y; Feng, Xinxing X; Wang, Dong D; Ahmad, Ferhaan F; Zhou, Xianliang X; Hui, Rutai R; Song, Lei L

Publication Date: 2014-05-26

Variant appearance in text: MYBPC3: E334K

PubMed Link: 24865491

Variant Present in the following documents:

• ijms-15-09302.pdf

View BVdb publication page

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Bepridil Suppresses Apoptosis in HL-1 Cardiac Atrial Myocytes Expressing Mutant E334K cMyBPC.

Yonago Acta Medica

Endo, Ryo R; Notsu, Tomomi T; Mishima, Mutsuo M; Morikawa, Kumi K; Li, Peili P; Ikeda, Nobuhito N; Ninomiya, Haruaki H; Shirayoshi, Yasuaki Y; Hisatome, Ichiro I

Publication Date: 2013-12

Variant appearance in text: MYBPC3: E334K

PubMed Link: 24574578

Variant Present in the following documents:

• Main text

View BVdb publication page

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The motif of human cardiac myosin-binding protein C is required for its Ca2+-dependent interaction with calmodulin.

The Journal Of Biological Chemistry

Lu, Yanling Y; Kwan, Ann H AH; Jeffries, Cy M CM; Guss, J Mitchell JM; Trewhella, Jill J

Publication Date: 2012-09-07

Variant appearance in text: cMyBP-C: E334K

PubMed Link: 22801425

Variant Present in the following documents:

• Main text

View BVdb publication page

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Cardiac myosin binding protein-C: redefining its structure and function.

Biophysical Reviews

Sadayappan, Sakthivel S; de Tombe, Pieter P PP

Publication Date: 2012-06-01

Variant appearance in text: cMyBP-C: E334K

PubMed Link: 22707987

Variant Present in the following documents:

• Main text

View BVdb publication page

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Structural insight into unique cardiac myosin-binding protein-C motif: a partially folded domain.

The Journal Of Biological Chemistry

Howarth, Jack W JW; Ramisetti, Srinivas S; Nolan, Kristof K; Sadayappan, Sakthivel S; Rosevear, Paul R PR

Publication Date: 2012-03-09

Variant appearance in text: cMyBP-C: E334K

PubMed Link: 22235120

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Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1.

Human Molecular Genetics

Gurnett, Christina A CA; Desruisseau, David M DM; McCall, Kevin K; Choi, Ryan R; Meyer, Zachary I ZI; Talerico, Michael M; Miller, Sara E SE; Ju, Jeong-Sun JS; Pestronk, Alan A; Connolly, Anne M AM; Druley, Todd E TE; Weihl, Conrad C CC; Dobbs, Mathew B MB

Publication Date: 2010-04-01

Variant appearance in text: MYBPC3: E334K

PubMed Link: 20045868

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