Genome editing has attracted wide interest for the generation of cellular models of disease
using human pluripotent stem cells and other cell types. CRISPR-Cas systems and TALENs …

Truncating mutations of chromodomain helicase DNA-binding protein 8 (CHD8), and of
many other genes with diverse functions, are strong-effect risk factors for autism spectrum …

X-linked Dystonia-Parkinsonism (XDP) is a Mendelian neurodegenerative disease that is
endemic to the Philippines and is associated with a founder haplotype. We integrated multiple …

Background Structural variation (SV) influences genome organization and contributes to
human disease. However, the complete mutational spectrum of SV has not been routinely …

Reciprocal copy-number variation (CNV) of a 593 kb region of 16p11.2 is a common
genetic cause of autism spectrum disorder (ASD), yet it is not completely penetrant and can …

Recurrent, reciprocal genomic disorders resulting from non-allelic homologous recombination
(NAHR) between near-identical segmental duplications (SDs) are a major cause of …

Pre-mRNA splicing is a key controller of human gene expression. Disturbances in splicing
due to mutation lead to dysregulated protein expression and contribute to a substantial …

The CAG repeat expansion in the Huntington's disease gene HTT extends a polyglutamine
tract in mutant huntingtin that enhances its ability to facilitate polycomb repressive complex 2 (…

Chromosome 16p11.2 reciprocal genomic disorder, resulting from recurrent copy-number
variants (CNVs), involves intellectual disability, autism spectrum disorder (ASD), and …

Disaccord between the supply and demand of energy (carbon, C) and certain material
elements (eg phosphorus, P) across trophic levels is common in most ecosystems and impacts …