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Select item 100307811.

Late-onset and classic phenotypes of Fabry disease in males with the GLA-Thr410Ala mutation

Kati Valtola, Marja Hedman, Ilkka Kantola, Susanne Walls, Seppo Helisalmi, Maleeha Maria, Joose Raivo, Christiane Auray-Blais, Johanna Kuusisto

Open Heart. 2023; 10(1): e002251. Published online 2023 Mar 16. doi: 10.1136/openhrt-2023-002251

PMCID:: PMC10030781

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Select item 99078272.

Filamin C is Essential for mammalian myocardial integrity

Tongbin Wu, Yujun Xu, Lunfeng Zhang, Zhengyu Liang, Xiaohai Zhou, Sylvia M. Evans, Ju Chen

PLoS Genet. 2023 Jan; 19(1): e1010630. Published online 2023 Jan 27. doi: 10.1371/journal.pgen.1010630

PMCID:: PMC9907827

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Select item 95146233.

Genomic findings of hypertrophic and dilated cardiomyopathy characterized in a Thai clinical genetics service

Objoon Trachoo, Teerapat Yingchoncharoen, Tawai Ngernsritrakul, Nareenart Iemwimangsa, Bhakbhoom Panthan, Sommon Klumsathian, Sasima Srisukh, Anucha Mukdadilok, Sithakom Phusanti, Angkana Charoenyingwattana, Takol Chareonsirisuthigul, Wasun Chantratita, Tarinee Tangcharoen

PLoS One. 2022; 17(9): e0267770. Published online 2022 Sep 27. doi: 10.1371/journal.pone.0267770

PMCID:: PMC9514623

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Select item 94937564.

Drosophila CRISPR/Cas9 mutants as tools to analyse cardiac filamin function and pathogenicity of human FLNC variants

Flavie Ader, Maria Russi, Laura Tixier-Cardoso, Estelle Jullian, Elodie Martin, Pascale Richard, Eric Villard, Veronique Monnier

Biol Open. 2022 Sep 15; 11(9): bio059376. Published online 2022 Sep 16. doi: 10.1242/bio.059376

PMCID:: PMC9493756

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Select item 93666605.

Assessment of the Diagnostic Yield of Combined Cardiomyopathy and Arrhythmia Genetic Testing

Lisa M. Dellefave-Castillo, Allison L. Cirino, Thomas E. Callis, Edward D. Esplin, John Garcia, Kathryn E. Hatchell, Britt Johnson, Ana Morales, Ellen Regalado, Susan Rojahn, Matteo Vatta, Robert L. Nussbaum, Elizabeth M. McNally

JAMA Cardiol. 2022 Sep; 7(9): 966–974. Published online 2022 Aug 10. doi: 10.1001/jamacardio.2022.2455

PMCID:: PMC9366660

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Select item 92386126.

Establishment of a Dedicated Inherited Cardiomyopathy Clinic: From Challenges to Improved Patients’ Outcome

Emily Smith, Paul D. Thompson, Carolyn Burke‐Martindale, Adaya Weissler‐Snir

J Am Heart Assoc. 2022 May 3; 11(9): e024501. Published online 2022 Apr 26. doi: 10.1161/JAHA.121.024501

PMCID:: PMC9238612

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Select item 91180167.

Rare and Common Genetic Variation Underlying the Risk of Hypertrophic Cardiomyopathy in a National Biobank

Kiran J. Biddinger, Sean J. Jurgens, Dimitri Maamari, Liam Gaziano, Seung Hoan Choi, Valerie N. Morrill, Jennifer L. Halford, Amit V. Khera, Steven A. Lubitz, Patrick T. Ellinor, Krishna G. Aragam

JAMA Cardiol. 2022 Jul; 7(7): 715–722. Published online 2022 May 18. doi: 10.1001/jamacardio.2022.1061

PMCID:: PMC9118016

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Select item 90966928.

Association of Pathogenic DNA Variants Predisposing to Cardiomyopathy With Cardiovascular Disease Outcomes and All-Cause Mortality

Aniruddh P. Patel, Jacqueline S. Dron, Minxian Wang, James P. Pirruccello, Kenney Ng, Pradeep Natarajan, Matthew Lebo, Patrick T. Ellinor, Krishna G. Aragam, Amit V. Khera

JAMA Cardiol. 2022 Jul; 7(7): 723–732. Published online 2022 May 11. doi: 10.1001/jamacardio.2022.0901

PMCID:: PMC9096692

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Select item 89184099.

Construction of circRNA‐miRNA‐mRNA network in the pathogenesis of recurrent implantation failure using integrated bioinformatics study

Mohsen Ahmadi, Salar Pashangzadeh, Mahta Moraghebi, Soudabeh Sabetian, Mohammad Shekari, Fatemeh Eini, Ensieh Salehi, Pegah Mousavi

J Cell Mol Med. 2022 Mar; 26(6): 1853–1864. Published online 2021 May 7. doi: 10.1111/jcmm.16586

PMCID:: PMC8918409

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Select item 889573010.

A genome-first approach to rare variants in hypertrophic cardiomyopathy genes MYBPC3 and MYH7 in a medical biobank

Joseph Park, Elizabeth A Packard, Michael G Levin, Renae L Judy, Regeneron Genetics Center, Scott M Damrauer, Sharlene M Day, Marylyn D Ritchie, Daniel J Rader

Hum Mol Genet. 2022 Mar 1; 31(5): 827–837. Published online 2021 Sep 20. doi: 10.1093/hmg/ddab249

PMCID:: PMC8895730

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Select item 858196411.

Solid-Phase Primer Elongation Using Biotinylated dNTPs for the Detection of a Single Nucleotide Polymorphism from a Fingerprick Blood Sample

Miriam Jauset-Rubio, Mayreli Ortiz, Ciara K. O’Sullivan

Anal Chem. 2021 Nov 9; 93(44): 14578–14585. Published online 2021 Oct 27. doi: 10.1021/acs.analchem.1c03419

PMCID:: PMC8581964

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Select item 853596012.

Myocardial Deformation Analysis in MYBPC3 and MYH7 Related Sarcomeric Hypertrophic Cardiomyopathy—The Graz Hypertrophic Cardiomyopathy Registry

Viktoria Höller, Heidelis Seebacher, David Zach, Nora Schwegel, Klemens Ablasser, Ewald Kolesnik, Johannes Gollmer, Gert Waltl, Peter P. Rainer, Sarah Verheyen, Andreas Zirlik, Nicolas Verheyen

Genes (Basel) 2021 Oct; 12(10): 1469. Published online 2021 Sep 23. doi: 10.3390/genes12101469

PMCID:: PMC8535960

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Select item 847565913.

Myocardial Perfusion Defects in Hypertrophic Cardiomyopathy Mutation Carriers

Rebecca K. Hughes, Claudia Camaioni, João B. Augusto, Kristopher Knott, Ellie Quinn, Gabriella Captur, Andreas Seraphim, George Joy, Petros Syrris, Perry M. Elliott, Saidi Mohiddin, Peter Kellman, Hui Xue, Luis R. Lopes, James C. Moon

J Am Heart Assoc. 2021 Aug 3; 10(15): e020227. Published online 2021 Jul 26. doi: 10.1161/JAHA.120.020227

PMCID:: PMC8475659

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Select item 829361114.

Electrocardiogram in Friedreich's ataxia: A short‐term surrogate endpoint for treatment efficacy

Sandra Mastroianno, Michele Germano, Angela Maggio, Raimondo Massaro, Domenico Rosario Potenza, Aldo Russo, Massimo Carella, Giuseppe Di Stolfo

Ann Noninvasive Electrocardiol. 2021 Jul; 26(4): e12813. Published online 2020 Nov 5. doi: 10.1111/anec.12813

PMCID:: PMC8293611

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Select item 824754915.

Evidence-Based Assessment of Genes in Dilated Cardiomyopathy

Elizabeth Jordan, Laiken Peterson, Tomohiko Ai, Babken Asatryan, Lucas Bronicki, Emily Brown, Rudy Celeghin, Matthew Edwards, Judy Fan, Jodie Ingles, Cynthia A. James, Olga Jarinova, Renee Johnson, Daniel P. Judge, Najim Lahrouchi, Ronald H. Lekanne Deprez, R. Thomas Lumbers, Francesco Mazzarotto, Argelia Medeiros Domingo, Rebecca L. Miller, Ana Morales, Brittney Murray, Stacey Peters, Kalliopi Pilichou, Alexandros Protonotarios, Christopher Semsarian, Palak Shah, Petros Syrris, Courtney Thaxton, J. Peter van Tintelen, Roddy Walsh, Jessica Wang, James Ware, Ray E. Hershberger

Circulation. 2021 Jul 6; 144(1): 7–19. Published online 2021 May 5. doi: 10.1161/CIRCULATIONAHA.120.053033

PMCID:: PMC8247549

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Select item 821376116.

A homozygous nonsense mutation in DCBLD2 is a candidate cause of developmental delay, dysmorphic features and restrictive cardiomyopathy

Kheloud M. Alhamoudi, Tlili Barhoumi, Hamad Al-Eidi, Abdulaziz Asiri, Marwan Nashabat, Manal Alaamery, Masheal Alharbi, Yazeid Alhaidan, Brahim Tabarki, Muhammad Umair, Majid Alfadhel

Sci Rep. 2021; 11: 12861. Published online 2021 Jun 18. doi: 10.1038/s41598-021-92026-0

PMCID:: PMC8213761

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Select item 820371817.

Characteristics of left atrial remodeling in patients with atrial fibrillation and hypertrophic cardiomyopathy in comparison to patients without hypertrophy

Sotirios Nedios, Borislav Dinov, Timm Seewöster, Frank Lindemann, Sergio Richter, Arash Arya, Nikolaos Dagres, Daniela Husser, Andreas Bollmann, Gerhard Hindricks, Andreas Müssigbrodt

Sci Rep. 2021; 11: 12411. Published online 2021 Jun 14. doi: 10.1038/s41598-021-91892-y

PMCID:: PMC8203718

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Select item 816612118.

Cardiovascular magnetic resonance detects microvascular dysfunction in a mouse model of hypertrophic cardiomyopathy

Min-Chi Ku, Frank Kober, Yi-Ching Lai, Andreas Pohlmann, Fatimunnisa Qadri, Michael Bader, Lucie Carrier, Thoralf Niendorf

J Cardiovasc Magn Reson. 2021; 23: 63. Published online 2021 May 31. doi: 10.1186/s12968-021-00754-z

PMCID:: PMC8166121

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Select item 793422819.

Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients

Julie Hathaway, Krista Heliö, Inka Saarinen, Jonna Tallila, Eija H. Seppälä, Sari Tuupanen, Hannu Turpeinen, Tiia Kangas-Kontio, Jennifer Schleit, Johanna Tommiska, Ville Kytölä, Miko Valori, Mikko Muona, Johanna Sistonen, Massimiliano Gentile, Pertteli Salmenperä, Samuel Myllykangas, Jussi Paananen, Tero-Pekka Alastalo, Tiina Heliö, Juha Koskenvuo

BMC Cardiovasc Disord. 2021; 21: 126. Published online 2021 Mar 5. doi: 10.1186/s12872-021-01927-5

PMCID:: PMC7934228

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Select item 776469220.

Hereditary Hypertrophic Cardiomyopathy in Children and Young Adults—The Value of Reevaluating and Expanding Gene Panel Analyses

Eva Fernlund, Antheia Kissopoulou, Henrik Green, Jan-Erik Karlsson, Rada Ellegård, Hanna Klang Årstrand, Jon Jonasson, Cecilia Gunnarsson

Genes (Basel) 2020 Dec; 11(12): 1472. Published online 2020 Dec 8. doi: 10.3390/genes11121472

PMCID:: PMC7764692

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