MECP2 Duplication Syndrome is a progressive neurological disorder due to a chromosomal anomaly. The chromosomal disorder was first reported in 2005 and involves duplication of the methyl CpG binding ...

Autism spectrum disorders are heterogeneous in nature with idiopathic and genetic origins. We present a 7-year-old boy with a long history of multiple behavioral concerns, poor school performance, ...

Single nucleotide polymorphism microarrays have introduced the possibility of unbiased association screens, or GWAS, but can also be utilized for very-high-density linkage analysis. The first use of ...

Researchers have uncovered how specific DNA rearrangements called inverted triplications contribute to the development of various genetic diseases. The study reveals that during DNA repair, segments ...

Lysine demethylase 6A (KDM6A) is a demethylase that plays a key role at regulating developmental gene expression signatures in several tissues, including neuronal cells. The KDM6A gene is located in ...