Roberts, Amy E.

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

Congenital heart defects researchGenomics and Rare Diseases

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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

Cited by 875

Modeling the mitochondrial cardiomyopathy of Barth syndrome with induced pluripotent stem cell and heart-on-chip technologies

Wang, G., McCain, M. L., Yang, L., He, A., Pasqualini, F. S., Agarwal, A., Yuan, H., Jiang, D., Zhang, D., Zangi, L., et al. (2014) · Nature Medicine

Pluripotent Stem Cells ResearchMitochondrial Function and Pathology

Cited by 837

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

Cited by 654

Germline gain-of-function mutations in SOS1 cause Noonan syndrome

Roberts, A. E., Araki, T., Swanson, K. D., Montgomery, K. T., Schiripo, T. A., Joshi, V. A., Li, L., Yassin, Y., Tamburino, A. M., Neel, B. G., et al. (2007) · Nature Genetics

Protein Tyrosine PhosphatasesProtein Kinase Regulation and GTPase Signaling

Cited by 605

The cardiofaciocutaneous syndrome

Roberts, A., Allanson, J., Jadico, S. K., Kavamura, M. I., Noonan, J., Opitz, J. M., Young, T., & Neri, G. (2006) · Journal of Medical Genetics

Protein Tyrosine PhosphatasesGenomics and Rare Diseases

Cited by 271

Insights Into the Pathogenesis of Catecholaminergic Polymorphic Ventricular Tachycardia From Engineered Human Heart Tissue

Park, S.-J., Zhang, D., Qi, Y., Li, Y., Lee, K. Y., Bezzerides, V. J., Yang, P., Xia, S., Kim, S. L., Liu, X., et al. (2019) · Circulation

Cardiac electrophysiology and arrhythmiasPluripotent Stem Cells Research

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Phenotypic Manifestations of Arrhythmogenic Cardiomyopathy in Children and Adolescents

DeWitt, E. S., Chandler, S. F., Hylind, R. J., Beausejour Ladouceur, V., Blume, E. D., VanderPluym, C., Powell, A. J., Fynn-Thompson, F., Roberts, A. E., Sanders, S. P., et al. (2019) · Journal of the American College of Cardiology

Cardiovascular Effects of ExerciseCardiomyopathy and Myosin Studies

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Chromosome microarray testing for patients with congenital heart defects reveals novel disease causing loci and high diagnostic yield

Geng, J., Picker, J., Zheng, Z., Zhang, X., Wang, J., Hisama, F., Brown, D. W., Mullen, M. P., Harris, D., Stoler, J., et al. (2014) · BMC Genomics

Genomic variations and chromosomal abnormalitiesGenomics and Rare Diseases

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Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome

Mlynarski, E. E., Sheridan, M. B., Xie, M., Guo, T., Racedo, S. E., McDonald-McGinn, D. M., Gai, X., Chow, E. W. C., Vorstman, J., Swillen, A., et al. (2015) · The American Journal of Human Genetics

Genomic variations and chromosomal abnormalitiesCongenital heart defects research

Cited by 74

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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