Nicholas D. Burt

Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder

The paper identifies WAPL as a novel cohesinopathy gene and driver of a genomic disorder, showing its role in developmental delay and other anomalies through clinical, in vitro, and in vivo analyses.

Convergent coexpression of autism associated genes suggests some novel risk genes may not be detectable in large-scale genetic studies

The paper identifies novel autism risk genes by analyzing convergent coexpression patterns in brain samples, showing these genes may not be detected by sequencing studies.

Transcriptional and functional consequences of alterations to MEF2C and its topological organization in neuronal models

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.

Tissue and cell-type specific molecular and functional signatures of 16p11.2 reciprocal genomic disorder across mouse brain and human neuronal models

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.

Parallelized engineering of mutational models using piggyBac transposon delivery of CRISPR libraries

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