Smith, Wendy
Maine Medical Center · Barbara Bush Children’s Hospital
3 papers on CoChatORCID 0000-0003-2182-2823
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
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
- Verified
Natural history and genotype‐phenotype correlations in 72 individuals with SATB2 ‐associated syndrome
Zarate, Y. A., Smith‐Hicks, C. L., Greene, C., Abbott, M., Siu, V. M., Calhoun, A. R. U. L., Pandya, A., Li, C., Sellars, E. A., Kaylor, J., et al. (2018) · American Journal of Medical Genetics Part A
Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases
Cited by 71
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