Parikh, Aditi

Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder

Talkowski, M. E., Mullegama, S. V., Rosenfeld, J. A., van Bon, B. W. M., Shen, Y., Repnikova, E. A., Gastier-Foster, J., Thrush, D. L., Kathiresan, S., Ruderfer, D. M., et al. (2011) · The American Journal of Human Genetics

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

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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

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