Shan Dong

The paper identifies transcriptional and epigenomic differences in Brodmann Area 22 in autism, linking them to RFX3-dependent networks and verbal ability.

This study examines common and rare variant genetic contributions to autism in African Americans, highlighting differences in genetic effects and polygenic score transferability between European and African ancestries.

The paper identifies cell-type-specific molecular and regulatory changes in D1 striosome medium spiny neurons and astrocytes in ASD using single-nucleus multiomic profiling in human putamen.

Mostly de novo variants in an 18 bp constrained region of U4 snRNA gene RNU4-2 cause a syndromic neurodevelopmental disorder, estimated to explain 0.41% of cases.

AlphaMissense shows strong correlation with functional assays of missense variants but has modest improvement over other predictors.

The paper investigates the functional consequences of SLC6A1 variants, finding haploinsufficiency underlies neurodevelopmental phenotypes and identifying missense residues sensitive to substitution.

This study evaluates genome sequencing as a single diagnostic approach for fetal structural anomalies, showing it detects nearly all variants from standard tests and provides higher diagnostic yield than individual tests.

The paper uses whole-genome and RNA sequencing from the human prefrontal cortex to identify genetic variants and transcriptomic changes associated with neurodevelopment and neuropsychiatric disorders.

This study examines the role of noncoding variation in autism spectrum disorder using whole genome sequencing of 2,076 genomes, finding no significant association after correction for multiple testing.

This study identifies 99 genes associated with autism spectrum disorder through large-scale exome sequencing, showing differences in mutation frequencies between ASD and severe neurodevelopmental delay groups.

The paper discusses the role of whole genome sequencing in psychiatric disorders through the WGSPD consortium, aiming to assess its utility compared to other genotyping methods.