Article: Environmental and Molecular Mutagens
Structural Variation Mutagenesis of the Human Genome: Impact on Disease and Evolution -June 2015
SMSRF Research Publications
Article: Cognitive Phenotypes and Genomic Copy Number Variations in JAMA
Cognitive Phenotypes and Genomic Copy Number Variations in Journal of the American Medical Association - May 2015
Article: Retinoic acid induced-1 (Rai1) regulates craniofacial and brain development in Xenopus
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.
Article: Dietary Regimens Modify Early Onset of Obesity in Mice Haploinsufficient for Rai1
A new article detailing the effect of RAI1 and obesity in mice.
