Astbury, Caroline

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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Sustained alpha‐sarcoglycan gene expression after gene transfer in limb‐girdle muscular dystrophy, type 2D

Mendell, J. R., Rodino‐Klapac, L. R., Rosales, X. Q., Coley, B. D., Galloway, G., Lewis, S., Malik, V., Shilling, C., Byrne, B. J., Conlon, T., et al. (2010) · Annals of Neurology

Virus-based gene therapy researchMuscle Physiology and Disorders

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