Long runs of homozygosity (ROH) arise when identical haplotypes are inherited from each
parent and thus a long tract of genotypes is homozygous. Cousin marriage or inbreeding …

Neuronal activity induces the post-translational modification of synaptic molecules, promotes
localized protein synthesis within dendrites and activates gene transcription, thereby …

Neuronal activity is crucial for adaptive circuit remodelling but poses an inherent risk to the
stability of the genome across the long lifespan of postmitotic neurons,,,–. Whether neurons …

Autism Spectrum Disorder (ASD) demonstrates high heritability and familial clustering, yet
the genetic causes remain only partially understood as a result of extensive clinical and …

Shank family proteins (Shank1, Shank2, and Shank3) are synaptic scaffolding proteins that
organize an extensive protein complex at the postsynaptic density (PSD) of excitatory …

Despite significant heritability of autism spectrum disorders (ASDs), their extreme genetic
heterogeneity has proven challenging for gene discovery. Studies of primarily simplex …

Background To facilitate the clinical implementation of genomic medicine by next-generation
sequencing, it will be critically important to obtain accurate and consistent variant calls on …

Autism spectrum disorder (ASD) is a severe neuropsychiatric disease with strong genetic
underpinnings. However, genetic contributions to autism are extremely heterogeneous, with …

Autism spectrum disorder (ASD) affects up to 1 in 59 individuals. Genome-wide association
and large-scale sequencing studies strongly implicate both common variants,–and rare de …

De novo mutations affect risk for many diseases and disorders, especially those with early-
onset. An example is autism spectrum disorders (ASD). Four recent whole-exome …