Publications:

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Lineage-specific regulatory changes in hypertrophic cardiomyopathy unraveled by single-nucleus RNA-seq and spatial transcriptomics.

Cell Discovery

Liu, Xuanyu X; Yin, Kunlun K; Chen, Liang L; Chen, Wen W; Li, Wenke W; Zhang, Taojun T; Sun, Yang Y; Yuan, Meng M; Wang, Hongyue H; Song, Yunhu Y; Wang, Shuiyun S; Hu, Shengshou S; Zhou, Zhou Z

Publication Date: 2023-01-17

Variant appearance in text: MYBPC3: 2526C>G; Tyr842Ter

PubMed Link: 36646705

Variant Present in the following documents:

• 41421_2022_490_MOESM2_ESM.xlsx, sheet 1

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Genetic evaluation of cardiomyopathies in Qatar identifies enrichment of pathogenic sarcomere gene variants and possible founder disease mutations in the Arabs.

Molecular Genetics & Genomic Medicine

Al-Shafai, Kholoud N KN; Al-Hashemi, Mohammed M; Manickam, Chidambaram C; Musa, Rania R; Selvaraj, Senthil S; Syed, Najeeb N; Vempalli, Fazulur F; Ali, Muneera M; Yacoub, Magdi M; Estivill, Xavier X

Publication Date: 2021-07

Variant appearance in text: MYBPC3: 2526C>G

PubMed Link: 34137518

Variant Present in the following documents:

• MGG3-9-e1709-s001.xlsx, sheet 1
• MGG3-9-e1709-s003.xlsx, sheet 1

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Genetic evaluation of cardiomyopathies in Qatar identifies enrichment of pathogenic sarcomere gene variants and possible founder disease mutations in the Arabs.

Molecular Genetics & Genomic Medicine

Al-Shafai, Kholoud N KN; Al-Hashemi, Mohammed M; Manickam, Chidambaram C; Musa, Rania R; Selvaraj, Senthil S; Syed, Najeeb N; Vempalli, Fazulur F; Ali, Muneera M; Yacoub, Magdi M; Estivill, Xavier X

Publication Date: 2021-07

Variant appearance in text: MYBPC3: 2526C>G

PubMed Link: 34137518

Variant Present in the following documents:

• MGG3-9-e1709-s003.xlsx, sheet 1
• MGG3-9-e1709-s001.xlsx, sheet 1

View BVdb publication page

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Clinical characteristics and outcomes in childhood-onset hypertrophic cardiomyopathy.

European Heart Journal

Marston, Nicholas A NA; Han, Larry L; Olivotto, Iacopo I; Day, Sharlene M SM; Ashley, Euan A EA; Michels, Michelle M; Pereira, Alexandre C AC; Ingles, Jodie J; Semsarian, Christopher C; Jacoby, Daniel D; Colan, Steven D SD; Rossano, Joseph W JW; Wittekind, Samuel G SG; Ware, James S JS; Saberi, Sara S; Helms, Adam S AS; Ho, Carolyn Y CY

Publication Date: 2021-05-21

Variant appearance in text: MYBPC3: 2526C>G; Tyr842*

PubMed Link: 33769460

Variant Present in the following documents:

• ehab148_supplementary_appendix.pdf

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Variant Spectrum of Formin Homology 2 Domain-Containing 3 Gene in Chinese Patients With Hypertrophic Cardiomyopathy.

Journal Of The American Heart Association

Wu, Guixin G; Ruan, Jieyun J; Liu, Jie J; Zhang, Channa C; Kang, Lianming L; Wang, Jizheng J; Zou, Yubao Y; Song, Lei L

Publication Date: 2021-02

Variant appearance in text: MYBPC3: Tyr842Ter

PubMed Link: 33586461

Variant Present in the following documents:

• Main text
• JAH3-10-e018236.pdf

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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: 2526C>G; Tyr842*

PubMed Link: 32841044

Variant Present in the following documents:

• hcg-13-396-s001.pdf

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Genetic Dissection of Hypertrophic Cardiomyopathy with Myocardial RNA-Seq.

International Journal Of Molecular Sciences

Gao, Jun J; Collyer, John J; Wang, Maochun M; Sun, Fengping F; Xu, Fuyi F

Publication Date: 2020-04-25

Variant appearance in text: MYBPC3: Y842X

PubMed Link: 32344918

Variant Present in the following documents:

• Main text
• ijms-21-03040.pdf

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Genotype and Lifetime Burden of Disease in Hypertrophic Cardiomyopathy: Insights from the Sarcomeric Human Cardiomyopathy Registry (SHaRe).

Circulation

Ho, Carolyn Y CY; Day, Sharlene M SM; Ashley, Euan A EA; Michels, Michelle M; Pereira, Alexandre C AC; Jacoby, Daniel D; Cirino, Allison L AL; Fox, Jonathan C JC; Lakdawala, Neal K NK; Ware, James S JS; Caleshu, Colleen A CA; Helms, Adam S AS; Colan, Steven D SD; Girolami, Francesca F; Cecchi, Franco F; Seidman, Christine E CE; Sajeev, Gautam G; Signorovitch, James J; Green, Eric M EM; Olivotto, Iacopo I

Publication Date: 2018-10-02

Variant appearance in text: MYBPC3: 2526C>G; Tyr842*

PubMed Link: 30297972

Variant Present in the following documents:

• cir-138-1387-s001.pdf

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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: Y842X

PubMed Link: 26090888

Variant Present in the following documents:

• Main text
• srep11411.pdf

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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: 2526C>G; Tyr842X

PubMed Link: 25524337

Variant Present in the following documents:

• mmc1.pdf

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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: Y842X

PubMed Link: 24865491

Variant Present in the following documents:

• Main text
• ijms-15-09302.pdf

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