Ferreira, Carlos R.
National Institutes of Health
2 papers on CoChatORCID 0000-0002-2697-1046
Most cited papers
- Verified
Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation
Guo, L., Bertola, D. R., Takanohashi, A., Saito, A., Segawa, Y., Yokota, T., Ishibashi, S., Nishida, Y., Yamamoto, G. L., Franco, J. F. D. S., et al. (2019) · The American Journal of Human Genetics
Bone Metabolism and DiseasesConnective tissue disorders research
Cited by 133
- Verified
Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases
Kobren, S. N., Baldridge, D., Velinder, M., Krier, J. B., LeBlanc, K., Esteves, C., Pusey, B. N., Züchner, S., Blue, E., Lee, H., et al. (2021) · Genetics in Medicine
Genomics and Rare DiseasesGenomics and Phylogenetic Studies
Cited by 27
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