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Martina Brueckner

Yale University

82

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6576

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Molecular Genetics and Complex Inheritance of Congenital Heart Disease.

2021 Genes
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Tissue-specific H2Bub1 is required for cardiomyocyte development

2021
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A change of heart: new roles for cilia in cardiac development and disease.

2021 Nature Reviews Cardiology
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De novo Damaging Variants, Clinical Phenotypes and Post-Operative Outcomes in Congenital Heart Disease

2020
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De novo damaging variants associated with congenital heart diseases contribute to the connectome.

2020 Scientific Reports
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Association of Damaging Variants in Genes With Increased Cancer Risk Among Patients With Congenital Heart Disease.

2020 JAMA Cardiology
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De novo and recessive forms of congenital heart disease have distinct genetic and phenotypic landscapes

2019 Nature Communications
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Histone H2B monoubiquitination regulates heart development via epigenetic control of cilia motility

2019 Proceedings of the National Academy of Sciences of the United States of America
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The Congenital Heart Disease Genetic Network Study: Cohort description

2018 PLOS ONE
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Robust identification of deletions in exome and genome sequence data based on clustering of Mendelian errors

2018 Human Mutation
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