Celine E. de Esch

Multi-omics profiling reveals MAGEL2-driven defects in human corticogenesis shared across Prader-Willi and Schaaf-Yang syndromes.

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

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.

Activation of the imprinted Prader-Willi Syndrome locus by CRISPR-based epigenome editing

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.

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.

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.