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Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases: the case of hypertrophic cardiomyopathy.
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- Genome Medicine, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13073-019-0616-z
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- Article
A comparative study of mutation screening of sarcomeric genes (MYBPC3, MYH7, TNNT2) using single gene approach versus targeted gene panel next generation sequencing in a cohort of HCM patients in Egypt.
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- Egyptian Journal of Medical Human Genetics, 2017, v. 18, n. 4, p. 381, doi. 10.1016/j.ejmhg.2017.05.002
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- Article
Endonuclease G is a novel determinant of cardiac hypertrophy and mitochondrial function.
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- Nature, 2011, v. 478, n. 7367, p. 114, doi. 10.1038/nature10490
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- Article
A trans-acting locus regulates an anti-viral expression network and type 1 diabetes risk.
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- Nature, 2010, v. 467, n. 7314, p. 460, doi. 10.1038/nature09386
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- Article
Ethnicity, consanguinity, and genetic architecture of hypertrophic cardiomyopathy.
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- European Heart Journal, 2023, v. 44, n. 48, p. 5146, doi. 10.1093/eurheartj/ehad372
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- Article
Assessing the association between genetic and phenotypic features of dilated cardiomyopathy and outcome in patients with coronary artery disease.
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- European Journal of Heart Failure, 2024, v. 26, n. 1, p. 46, doi. 10.1002/ejhf.3033
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- Article
Association of Titin-Truncating Genetic Variants With Life-threatening Cardiac Arrhythmias in Patients With Dilated Cardiomyopathy and Implanted Defibrillators.
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- JAMA Network Open, 2019, v. 2, n. 6, p. e196520, doi. 10.1001/jamanetworkopen.2019.6520
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- Article
Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease.
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- Science Translational Medicine, 2015, v. 7, n. 270, p. 1, doi. 10.1126/scitranslmed.3010134
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- Article
The Egyptian Collaborative Cardiac Genomics (ECCO-GEN) Project: defining a healthy volunteer cohort.
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- NPJ Genomic Medicine, 2020, v. 5, n. 1, p. N.PAG, doi. 10.1038/s41525-020-00153-w
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- Article
Three-dimensional cardiovascular imaging-genetics: a mass univariate framework.
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- Bioinformatics, 2018, v. 34, n. 1, p. 97, doi. 10.1093/bioinformatics/btx552
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- Article
Genetic modifiers to the PLN L39X mutation in a patient with DCM and sustained ventricular tachycardia?
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- Global Cardiology Science & Practice, 2015, v. 2015, n. 2, p. 1, doi. 10.5339/gcsp.2015.29
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- Article
MicroRNA-223 regulates Glut4 expression and cardiomyocyte glucose metabolism.
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- Cardiovascular Research, 2010, v. 86, n. 3, p. 410, doi. 10.1093/cvr/cvq010
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- Article
Defining the genetic architecture of hypertrophic cardiomyopathy: re-evaluating the role of non-sarcomeric genes.
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- European Heart Journal, 2017, v. 38, n. 46, p. 3461, doi. 10.1093/eurheartj/ehw603
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- Article