November 11, 2016- We are incredibly excited to announce our Gene Therapy Project, which builds on the research we... Read More
Smith-Magenis Syndrome and its Circadian influence on development, behavior, and obesity. June 2015
SMS and Food-Related Behaviors Equivalent to Prader-Willi.
Copy number loss upstream of RAI1 uncovers gene expression regulatory region that may impact Potocki–Lupski syndrome diagnosis- July 2015
Structural Variation Mutagenesis of the Human Genome: Impact on Disease and Evolution -June 2015
Cognitive Phenotypes and Genomic Copy Number Variations in Journal of the American Medical Association - May 2015
Retinoic acid induced-1 (RAI1) is an important yet understudied histone code reader that when mutated in humans results in Smith–Magenis syndrome (SMS), a neurobehavioral disorder accompanied by signature craniofacial abnormalities.
Article: MBD5 haploinsufficiency is associated with sleep disturbance and disrupts circadian pathways common to Smith–Magenis and fragile X syndromes
Individuals with autism spectrum disorders (ASD) who have an identifiable single-gene neurodevelopmental disorder (NDD), such as fragile X syndrome (FXS, FMR1), Smith–Magenis syndrome (SMS, RAI1), or 2q23.1 deletion syndrome (del 2q23.1, MBD5) share phenotypic features, including a high prevalence of sleep disturbance.
A new article detailing the effect of RAI1 and obesity in mice.