Tianyun Wang

This study benchmarks saliva-derived DNA against blood for long-read sequencing in autism, showing comparable variant detection despite nonhuman DNA contamination.

The paper identifies noncoding MECP2 variants that cause male-biased autism by disrupting CRE activity and reducing MECP2 expression.

The paper evaluates estradiol's effects on ASD/NDD genes using human neurons and zebrafish, finding both convergent transcriptomic effects and gene-specific cellular and behavioral rescue.

The paper investigates sex-specific penetrance in PILBOS, showing male overrepresentation and androgen-mediated sexual dimorphism through genetic and mouse model studies.

The paper identifies genetic variants associated with autistic traits in adults aged 40 and above using UK Biobank and SPARK cohorts, linking them to brain structure and function.

This study shows parental educational attainment polygenic scores influence offspring autism symptoms through indirect genetic effects and are linked to later diagnosis age.

The paper uses long-read sequencing to identify pathogenic variants in autism cases, finding three pathogenic mutations and nine candidate structural variants missed by short-read sequencing.

The paper identifies PSMC5 variants causing neurodevelopmental disorders and shows their impact on neuronal function and immune signaling, suggesting therapeutic targets.

The paper identifies sex-biased molecular vulnerabilities in the developing human cortex linked to neurodevelopmental disorders by integrating transcriptomic and epigenomic data with mutation analysis.

This study identifies MARK2 variants as a cause of autism spectrum disorder by showing they disrupt the WNT/β-catenin signaling pathway and impair neural development.

The paper reports a cohort of 35 individuals with CUL3 variants causing a syndromic neurodevelopmental disorder, showing loss-of-function variants disrupt protein homeostasis by impairing proteasomal degradation of CUL3 substrates.

The paper identifies 60 new moderate risk genes for autism by integrating de novo and inherited variants across 42,607 cases and 236,000 controls.

The paper analyzes de novo mutations in autism and developmental disorder trios to identify candidate genes and functional networks associated with neurodevelopmental disorders.

The paper reports exome sequencing of 457 ASD families, identifying 10.4% with known ASD genes and 3.4% with possibly associated variants, and provides statistical support for 34 ASD risk genes using the TADA framework.