Williams, Charles

A copy number variation morbidity map of developmental delay

Cooper, G. M., Coe, B. P., Girirajan, S., Rosenfeld, J. A., Vu, T. H., Baker, C., Williams, C., Stalker, H., Hamid, R., Hannig, V., et al. (2011) · Nature Genetics

Genomic variations and chromosomal abnormalitiesGenomics and Rare Diseases

Cited by 1,351

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

Cited by 249

Angelman syndrome: advancing the research frontier of neurodevelopmental disorders

Philpot, B. D., Thompson, C. E., Franco, L., & Williams, C. A. (2011) · Journal of Neurodevelopmental Disorders

Genetics and Neurodevelopmental DisordersGenetic Syndromes and Imprinting

Cited by 17

Congenital Arthrogryposis: An Extension of the 15q11.2 BP1-BP2 Microdeletion Syndrome?

Usrey, K. M., Williams, C. A., Dasouki, M., Fairbrother, L. C., & Butler, M. G. (2014) · Case Reports in Genetics

Genomic variations and chromosomal abnormalitiesCongenital limb and hand anomalies

Cited by 16