Escobar, Luis F.
St Vincent Hospital
3 papers on CoChatORCID 0000-0003-0392-8245
Most cited papers
- Verified
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay
Girirajan, S., Rosenfeld, J. A., Cooper, G. M., Antonacci, F., Siswara, P., Itsara, A., Vives, L., Walsh, T., McCarthy, S. E., Baker, C., et al. (2010) · Nature Genetics
Genomic variations and chromosomal abnormalitiesGenome Rearrangement Algorithms
Cited by 667
- Verified
Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants
Girirajan, S., Rosenfeld, J. A., Coe, B. P., Parikh, S., Friedman, N., Goldstein, A., Filipink, R. A., McConnell, J. S., Angle, B., Meschino, W. S., et al. (2012) · New England Journal of Medicine
Genomic variations and chromosomal abnormalitiesGenomics and Rare Diseases
Cited by 621
- Verified
Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies.
Fountain, M. D., Oleson, D. S., Rech, M. E., Segebrecht, L., Hunter, J. V., McCarthy, J. M., Lupo, P. J., Holtgrewe, M., Moran, R., Rosenfeld, J. A., et al. (2019) · Genetics in Medicine
Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases
Cited by 80
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