Derek J.C. Tai

The paper investigates how POGZ loss-of-function affects transcription factor binding and gene expression in neurons, revealing shared molecular changes with other NDD-related genes.

This study evaluates the diagnostic yield of short-read and long-read sequencing in rare diseases, finding limited added value from long-read sequencing despite increased variant discovery.

This study identifies MAGEL2-driven defects in human corticogenesis shared between Prader-Willi and Schaaf-Yang syndromes using multi-omics profiling of induced neurons.

The paper investigates the functional role of recursive splicing in CADM2, showing that its deletion leads to altered gene expression and behavioral changes in neurodevelopmental disorders.

The paper uses CRISPR-based epigenome editing to activate the silenced maternal SNRPN gene in PWS iPSCs, showing that DNA demethylation can lead to stable expression.

The paper investigates the effects of MEF2C mutations and chromatin structural variants on transcriptional and functional outcomes in neuronal models, revealing differential impacts based on mutation type and chromatin topology.

This study identifies molecular and functional changes in mouse and human models of 16p11.2 reciprocal genomic disorder, revealing context-specific disruptions in energy metabolism, RNA processing, and neuronal development.

The paper identifies cell type specific driver genes in autism-associated copy number loci using cerebral organoids and validates findings with CRISPR/Cas9-edited mosaic organoids.

This paper develops a piggyBac transposon system for CRISPR library delivery to human iPSCs, enabling scalable mutational modeling of genes and variants.