Elsea, Sarah H.

Mutations in RAI1 associated with Smith-Magenis syndrome

Slager, R. E., Newton, T. L., Vlangos, C. N., Finucane, B., & Elsea, S. H. (2003) · Nature Genetics

Genetics and Neurodevelopmental DisordersGenomic variations and chromosomal abnormalities

Cited by 362

Haploinsufficiency of HDAC4 Causes Brachydactyly Mental Retardation Syndrome, with Brachydactyly Type E, Developmental Delays, and Behavioral Problems

Williams, S. R., Aldred, M. A., Der Kaloustian, V. M., Halal, F., Gowans, G., McLeod, D. R., Zondag, S., Toriello, H. V., Magenis, R. E., & Elsea, S. H. (2010) · The American Journal of Human Genetics

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

Cited by 302

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

Smith–Magenis syndrome

Elsea, S. H., & Girirajan, S. (2008) · European Journal of Human Genetics

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

Cited by 241

Smith-Magenis Syndrome Results in Disruption of CLOCK Gene Transcription and Reveals an Integral Role for RAI1 in the Maintenance of Circadian Rhythmicity

Williams, S. R., Zies, D., Mullegama, S. V., Grotewiel, M. S., & Elsea, S. H. (2012) · The American Journal of Human Genetics

Circadian rhythm and melatoninSleep and Wakefulness Research

Cited by 115

New developments in Smith-Magenis syndrome (del 17p11.2)

Gropman, A. L., Elsea, S., Duncan, W. C., & Smith, A. C. (2007) · Current Opinion in Neurology

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

Cited by 75