DePalma, Steven R.

Truncations of titin causing dilated cardiomyopathy

Herman, D. S., Lam, L., Taylor, M. R. G., Wang, L., Teekakirikul, P., Christodoulou, D., Conner, L., DePalma, S. R., McDonough, B., Sparks, E., et al. (2012) · New England Journal of Medicine

Cardiomyopathy and Myosin StudiesGenomics and Rare Diseases

Cited by 1,485

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

Mutations in Sarcomere Protein Genes as a Cause of Dilated Cardiomyopathy

Kamisago, M., Sharma, S. D., DePalma, S. R., Solomon, S., Sharma, P., McDonough, B., Smoot, L., Mullen, M. P., Woolf, P. K., Wigle, E. D., et al. (2000) · New England Journal of Medicine

Cardiomyopathy and Myosin StudiesViral Infections and Immunology Research

Cited by 720

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

Cited by 268

A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders

Gensure, R. C., Mäkitie, O., Barclay, C., Chan, C., DePalma, S. R., Bastepe, M., Abuzahra, H., Couper, R., Mundlos, S., Sillence, D., et al. (2005) · Journal of Clinical Investigation

Connective tissue disorders researchDermatological and Skeletal Disorders

Cited by 172

BET bromodomain proteins regulate transcriptional reprogramming in genetic dilated cardiomyopathy

Antolic, A., Wakimoto, H., Jiao, Z., Gorham, J. M., DePalma, S. R., Lemieux, M. E., Conner, D. A., Lee, D. Y., Qi, J., Seidman, J. G., et al. (2020) · JCI Insight

Cardiac Fibrosis and RemodelingCardiomyopathy and Myosin Studies

Cited by 41