Insufficient evidence for “autism-specific” genes.
Genetics
Clinical impact of splicing in neurodevelopmental disorders.
VariCarta: A comprehensive database of harmonized genomic variants found in autism spectrum disorder sequencing studies.
Loss of the neural-specific BAF subunit ACTL6B relieves repression of early response genes and causes recessive autism.
Large mosaic copy number variations confer autism risk.
Co-localization between sequence constraint and epigenomic information improves interpretation of whole-genome sequencing data.
Whole-genome and RNA sequencing reveal variation and transcriptomic coordination in the developing human prefrontal cortex.
A computational tool (H-MAGMA) for improved prediction of brain-disorder risk genes by incorporating brain chromatin interaction profiles.
Forecasting risk gene discovery in autism with machine learning and genome-scale data.
Autism risk in offspring can be assessed through quantification of male sperm mosaicism.
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