Brueckner, Martina

De novo mutations in histone-modifying genes in congenital heart disease

Zaidi, S., Choi, M., Wakimoto, H., Ma, L., Jiang, J., Overton, J. D., Romano-Adesman, A., Bjornson, R. D., Breitbart, R. E., Brown, K. K., et al. (2013) · Nature

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Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands

Jin, S. C., Homsy, J., Zaidi, S., Lu, Q., Morton, S., DePalma, S. R., Zeng, X., Qi, H., Chang, W., Sierant, M. C., et al. (2017) · Nature Genetics

Congenital heart defects researchGenomics and Rare Diseases

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Genetic basis for congenital heart disease: Revisited: A scientific statement from the American Heart Association

Pierpont, M. E., Brueckner, M., Chung, W. K., Garg, V., Lacro, R. V., McGuire, A. L., Mital, S., Priest, J. R., Pu, W. T., Roberts, A., et al. (2018) · Circulation

Congenital heart defects researchCongenital Heart Disease Studies

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Increased Frequency of De Novo Copy Number Variants in Congenital Heart Disease by Integrative Analysis of Single Nucleotide Polymorphism Array and Exome Sequence Data

Glessner, J. T., Bick, A. G., Ito, K., Homsy, J. G., Rodriguez-Murillo, L., Fromer, M., Mazaika, E., Vardarajan, B., Italia, M., Leipzig, J., et al. (2014) · Circulation Research

Genomic variations and chromosomal abnormalitiesCongenital heart defects research

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Association of Damaging Variants in Genes With Increased Cancer Risk Among Patients With Congenital Heart Disease

Morton, S. U., Shimamura, A., Newburger, P. E., Opotowsky, A. R., Quiat, D., Pereira, A. C., Jin, S. C., Gurvitz, M., Brueckner, M., Chung, W. K., et al. (2021) · JAMA Cardiology

Congenital Heart Disease StudiesGenomics and Rare Diseases

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Systems Analysis Implicates WAVE2 Complex in the Pathogenesis of Developmental Left-Sided Obstructive Heart Defects

Edwards, J. J., Rouillard, A. D., Fernandez, N. F., Wang, Z., Lachmann, A., Shankaran, S. S., Bisgrove, B. W., Demarest, B., Turan, N., Srivastava, D., et al. (2020) · JACC: Basic to Translational Science

Congenital heart defects researchCardiomyopathy and Myosin Studies

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