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Steven R. DePalma

Harvard University

61

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Discordant clinical features of identical hypertrophic cardiomyopathy twins.

2021 Proceedings of the National Academy of Sciences of the United States of America
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Genetic and Phenotypic Landscape of Peripartum Cardiomyopathy.

2021 Circulation
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Contribution of Noncanonical Splice Variants to TTN Truncating Variants Cardiomyopathy.

2021
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Whole Genome De Novo Variant Identification with FreeBayes and Neural Network Approaches

2020 bioRxiv
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SEQUENCE VARIANTS IN TITIN CAUSING SPLICING DEFECTS AND CARDIOMYOPATHY: INSIGHTS FOR GENE BASED DIAGNOSIS AND NORMAL PHYSIOLOGY

2020 Journal of the American College of Cardiology
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BET Bromodomain Proteins Regulate Transcriptional Reprogramming in Genetic Dilated Cardiomyopathy

2020 bioRxiv
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Rare genetic variation at transcription factor binding sites modulates local DNA methylation profiles.

2020 PLOS Genetics
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Abstract 202: The R21C Mutation in Troponin I Has a Founder Effect in South Lebanon and Causes Malignant Hypertrophic Cardiomyopathy

2019 Circulation Research
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Abstract 785: Modeling Congenital Heart Disease-Associated Variants in GATA6 Using CRISPR/Cas9 and Human Induced Pluripotent Stem Cells

2019 Circulation Research
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ORE identifies extreme expression effects enriched for rare variants

2019 Bioinformatics
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