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Select item 87580221.

Identification of a novel missense mutation in the TPM1 gene via exome sequencing in a Chinese family with dilated cardiomyopathy: A case report and literature review

Yilong Man, Changying Yi, Meili Fan, Tianyu Yang, Peng Liu, Shiguang Liu, Guangxin Wang

Medicine (Baltimore) 2022 Jan 14; 101(2): e28551. Published online 2022 Jan 14. doi: 10.1097/MD.0000000000028551

PMCID:: PMC8758022

Article PDF–387K

Select item 32715892.

Cleavage of serum response factor mediated by enteroviral protease 2A contributes to impaired cardiac function

Jerry Wong, Jingchun Zhang, Bobby Yanagawa, Zongshu Luo, Xiangsheng Yang, Jiang Chang, Bruce McManus, Honglin Luo

Cell Res. 2012 Feb; 22(2): 360–371. Published online 2011 Jul 19. doi: 10.1038/cr.2011.114

PMCID:: PMC3271589

Article PDF–1.2M

Select item 103372753.

A case of infantile Barth syndrome with severe heart failure: Importance of splicing variants in the TAZ gene

Atsuhito Takeda, Masahiro Ueki, Jiro Abe, Kazuhiro Maeta, Tomoko Horiguchi, Hirokuni Yamazawa, Gaku Izumi, Ayako Chida‐Nagai, Daisuke Sasaki, Takao Tsujioka, Itsumi Sato, Masahiro Shiraishi, Masafumi Matsuo

Mol Genet Genomic Med. 2023 Jul; 11(7): e2190. Published online 2023 Apr 25. doi: 10.1002/mgg3.2190

PMCID:: PMC10337275

Article PDF–1.1M

Select item 94623894.

Longitudinal Observational Study of Cardiac Outcome Risk Factor Prediction in Children, Adolescents, and Adults with Barth Syndrome

Shahryar Chowdhury, Lanier Jackson, Barry J. Byrne, Randall M. Bryant, W. Todd Cade, Tammy Lane Churchill, Julia Buchanan, Carolyn Taylor

Pediatr Cardiol. Author manuscript; available in PMC 2023 Aug 1.

Published in final edited form as: Pediatr Cardiol. 2022 Aug; 43(6): 1251–1263. Published online 2022 Mar 3. doi: 10.1007/s00246-022-02846-8

PMCID:: PMC9462389

Article PDF–1.3M

Select item 92386125.

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

Article PDF–668K

Select item 91027096.

Dilated-Left Ventricular Non-Compaction Cardiomyopathy in a Pediatric Case with SPEG Compound Heterozygous Variants

Hager Jaouadi, Fedoua El Louali, Chloé Wanert, Aline Cano, Caroline Ovaert, Stéphane Zaffran

Int J Mol Sci. 2022 May; 23(9): 5205. Published online 2022 May 6. doi: 10.3390/ijms23095205

PMCID:: PMC9102709

Article PDF–2.9M

Select item 84286287.

Genetic Testing in Pediatric Left Ventricular Noncompaction

Erin M. Miller, Robert B. Hinton, Richard Czosek, Angela Lorts, Ashley Parrott, Amy R. Shikany, Richard F. Ittenbach, Stephanie M. Ware

Circ Cardiovasc Genet. Author manuscript; available in PMC 2021 Sep 9.

Published in final edited form as: Circ Cardiovasc Genet. 2017 Dec; 10(6): e001735. doi: 10.1161/CIRCGENETICS.117.001735

PMCID:: PMC8428628

Article PDF–994K

Select item 81237288.

Co‐occurrence of orofacial clefts and clubfoot phenotypes in a sub‐Saharan African cohort: Whole‐exome sequencing implicates multiple syndromes and genes

Lord J. J. Gowans, Noura Al Dhaheri, Mary Li, Tamara Busch, Solomon Obiri‐Yeboah, Alexander A. Oti, Daniel K. Sabbah, Fareed K. N. Arthur, Waheed O. Awotoye, Azeez A. Alade, Peter Twumasi, Pius Agbenorku, Gyikua Plange‐Rhule, Thirona Naicker, Peter Donkor, Jeffrey C. Murray, Nara L. M. Sobreira, Azeez Butali

Mol Genet Genomic Med. 2021 Apr; 9(4): e1655. Published online 2021 Mar 14. doi: 10.1002/mgg3.1655

PMCID:: PMC8123728

Article PDF–1.1M

Select item 75074299.

Expanding the phenotype of STRA6‐related disorder to include left ventricular non‐compaction

Hairui Sun, Shaomei Yu, Xiaoxue Zhou, Lu Han, Hongjia Zhang, Yihua He

Mol Genet Genomic Med. 2020 Sep; 8(9): e1377. Published online 2020 Jun 29. doi: 10.1002/mgg3.1377

PMCID:: PMC7507429

Article PDF–515K

Select item 673234010.

Clinical implications of sarcomere and nonsarcomere gene variants in patients with left ventricular noncompaction cardiomyopathy

Shijie Li, Ce Zhang, Nana Liu, Hui Bai, Cuihong Hou, Jielin Pu

Mol Genet Genomic Med. 2019 Sep; 7(9): e874. Published online 2019 Aug 9. doi: 10.1002/mgg3.874

PMCID:: PMC6732340

Article PDF–550K

Select item 652300711.

Titin‐truncating variants are associated with heart failure events in patients with left ventricular non‐compaction cardiomyopathy

Shijie Li, Ce Zhang, Nana Liu, Hui Bai, Cuihong Hou, Lei Song, Jielin Pu

Clin Cardiol. 2019 May; 42(5): 530–535. Published online 2019 Apr 16. doi: 10.1002/clc.23172

PMCID:: PMC6523007

Article PDF–821K

Select item 623501012.

Isogenic Pairs of hiPSC-CMs with Hypertrophic Cardiomyopathy/LVNC-Associated ACTC1 E99K Mutation Unveil Differential Functional Deficits

James G.W. Smith, Thomas Owen, Jamie R. Bhagwan, Diogo Mosqueira, Elizabeth Scott, Ingra Mannhardt, Asha Patel, Roberto Barriales-Villa, Lorenzo Monserrat, Arne Hansen, Thomas Eschenhagen, Sian E. Harding, Steve Marston, Chris Denning

Stem Cell Reports. 2018 Nov 13; 11(5): 1226–1243. Published online 2018 Nov 1. doi: 10.1016/j.stemcr.2018.10.006

PMCID:: PMC6235010

Article PDF–4.6M

Select item 620155313.

Semi-automatic detection of myocardial trabeculation using cardiovascular magnetic resonance: correlation with histology and reproducibility in a mouse model of non-compaction

Julien Frandon, Stéphanie Bricq, Zakarya Bentatou, Laetitia Marcadet, Pierre Antoine Barral, Mathieu Finas, Daniel Fagret, Frank Kober, Gilbert Habib, Monique Bernard, Alain Lalande, Lucile Miquerol, Alexis Jacquier

J Cardiovasc Magn Reson. 2018; 20: 70. Published online 2018 Oct 25. doi: 10.1186/s12968-018-0489-0

PMCID:: PMC6201553

Article PDF–2.0M

Select item 614709014.

Diagnostic Yield of Genetic Testing in Young Athletes With T-Wave Inversion

Nabeel Sheikh, Michael Papadakis, Mathew Wilson, Aneil Malhotra, Carmen Adamuz, Tessa Homfray, Lorenzo Monserrat, Elijah R. Behr, Sanjay Sharma

Circulation. 2018 Sep 18; 138(12): 1184–1194. Published online 2018 Sep 17. doi: 10.1161/CIRCULATIONAHA.118.034208

PMCID:: PMC6147090

Article PDF–869K

Select item 578552115.

Endothelial deletion of Ino80 disrupts coronary angiogenesis and causes congenital heart disease

Siyeon Rhee, Jae I. Chung, Devin A. King, Gaetano D’amato, David T. Paik, Anna Duan, Andrew Chang, Danielle Nagelberg, Bikram Sharma, Youngtae Jeong, Maximilian Diehn, Joseph C. Wu, Ashby J. Morrison, Kristy Red-Horse

Nat Commun. 2018; 9: 368. Published online 2018 Jan 25. doi: 10.1038/s41467-017-02796-3

PMCID:: PMC5785521

Article PDF–7.7M

Select item 563427816.

A Wide and Specific Spectrum of Genetic Variants and Genotype–Phenotype Correlations Revealed by Next‐Generation Sequencing in Patients with Left Ventricular Noncompaction

Ce Wang, Yukiko Hata, Keiichi Hirono, Asami Takasaki, Sayaka Watanabe Ozawa, Hideyuki Nakaoka, Kazuyoshi Saito, Nariaki Miyao, Mako Okabe, Keijiro Ibuki, Naoki Nishida, Hideki Origasa, Xianyi Yu, Neil E. Bowles, Fukiko Ichida, for LVNC Study Collaborators

J Am Heart Assoc. 2017 Sep; 6(9): e006210. Published online 2017 Aug 30. doi: 10.1161/JAHA.117.006210

PMCID:: PMC5634278

Article PDF–1.4M

Select item 506818917.

Combination of Whole Genome Sequencing, Linkage, and Functional Studies Implicates a Missense Mutation in Titin as a Cause of Autosomal Dominant Cardiomyopathy With Features of Left Ventricular Noncompaction

Robert Hastings, Carin P. de Villiers, Charlotte Hooper, Liz Ormondroyd, Alistair Pagnamenta, Stefano Lise, Silvia Salatino, Samantha J.L. Knight, Jenny C. Taylor, Kate L. Thomson, Linda Arnold, Spyros D. Chatziefthimiou, Petr V. Konarev, Matthias Wilmanns, Elisabeth Ehler, Andrea Ghisleni, Mathias Gautel, Edward Blair, Hugh Watkins, Katja Gehmlich

Circ Cardiovasc Genet. 2016 Oct; 9(5): 426–435. Published online 2016 Oct 18. doi: 10.1161/CIRCGENETICS.116.001431

PMCID:: PMC5068189

Article PDF–800K

Select item 463011618.

Cardiomyopathy Phenotypes and Outcomes for Children with Left Ventricular Myocardial Noncompaction: Results from the Pediatric Cardiomyopathy Registry

John L. Jefferies, James D. Wilkinson, Lynn A. Sleeper, Steven D. Colan, Minmin Lu, Elfriede Pahl, Paul F. Kantor, Melanie D. Everitt, Steven A. Webber, Beth D. Kaufman, Jacqueline M. Lamour, Charles E. Canter, Daphne T. Hsu, Linda J. Addonizio, Steven E. Lipshultz, Jeffrey A. Towbin, the Pediatric Cardiomyopathy Registry Investigators

J Card Fail. Author manuscript; available in PMC 2016 Nov 1.

Published in final edited form as: J Card Fail. 2015 Nov; 21(11): 877–884. Published online 2015 Jul 9. doi: 10.1016/j.cardfail.2015.06.381

PMCID:: PMC4630116

Article PDF–1.5M

Select item 396023819.

ZASP Interacts with the Mechanosensing Protein Ankrd2 and p53 in the Signalling Network of Striated Muscle

Valentina C. Martinelli, W. Buck Kyle, Snezana Kojic, Nicola Vitulo, Zhaohui Li, Anna Belgrano, Paolo Maiuri, Lawrence Banks, Matteo Vatta, Giorgio Valle, Georgine Faulkner

PLoS One. 2014; 9(3): e92259. Published online 2014 Mar 19. doi: 10.1371/journal.pone.0092259

Retraction in:: PLoS One. 2024; 19(1): e0298249.

PMCID:: PMC3960238

Article

Select item 389325020.

Identification of Critical Regions and Candidate Genes for Cardiovascular Malformations and Cardiomyopathy Associated with Deletions of Chromosome 1p36

Hitisha P. Zaveri, Tyler F. Beck, Andrés Hernández-García, Katharine E. Shelly, Tara Montgomery, Arie van Haeringen, Britt-Marie Anderlid, Chirag Patel, Himanshu Goel, Gunnar Houge, Bernice E. Morrow, Sau Wai Cheung, Seema R. Lalani, Daryl A. Scott

PLoS One. 2014; 9(1): e85600. Published online 2014 Jan 15. doi: 10.1371/journal.pone.0085600

PMCID:: PMC3893250

Article PDF–501K

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