Angelman syndrome (AS) is a neurogenetic disorder caused by deletion of the maternally
inherited UBE3A allele and is characterized by developmental delay, intellectual disability, …

Background Duplications of the chromosome 15q11-q13.1 region are associated with an
estimated 1 to 3% of all autism cases, making this copy number variation (CNV) one of the …

Advances in genome sequencing have greatly facilitated the identification of genomic variants
underlying rare neurodevelopmental and neurodegenerative disorders. Understanding …

Gamma aminobutyric acid (GABA)-expressing interneurons are the major inhibitory cells of
the cerebral cortex and hippocampus. These interneurons originate in the medial ganglionic …

Angelman syndrome (AS) is a severe neurodevelopmental disorder caused by the loss of
function from the maternal allele of UBE3A, a gene encoding an E3 ubiquitin ligase. UBE3A is …

Loss of UBE3A expression, a gene regulated by genomic imprinting, causes Angelman
syndrome (AS), a rare neurodevelopmental disorder. The UBE3A gene encodes an E3 ubiquitin …

Embryonic stem cells (ESCs) hold great therapeutic potential due to their ability to differentiate
into cells of the three primary germ layers, which can be used to repopulate disease-…

Angelman syndrome (AS) is a rare neurodevelopmental disorder caused by loss of function
of the maternally inherited UBE3A allele. In neurons, the paternal allele of UBE3A is …

The chromosome 15q11-q13 region of the human genome is regulated by genomic imprinting,
an epigenetic phenomenon in which genes are expressed exclusively from one parental …

Induced pluripotent stem cell (iPSC) technology has allowed for the invaluable modeling of
many genetic disorders including disorders associated with genomic imprinting. Genomic …