Rebecca Meyer‐Schuman

Druggable CSNK2A1-MeCP2 regulatory axis links Okur-Chung neurodevelopmental syndrome with MECP2-related disorders

The paper identifies a druggable CSNK2A1-MeCP2 regulatory axis linking Okur-Chung neurodevelopmental syndrome with MECP2-related disorders through CRISPR screens and mouse models.

A massively parallel reporter assay of MECP2 cis-regulatory elements reveals genetic candidates for male-biased autism

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

Pangenome discovery of missing autism variants

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.

Sex differences in the developing human cortex intersect with genetic risk of neurodevelopmental disorders

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.

Predictive modeling provides insight into the clinical heterogeneity associated with TARS1 loss-of-function mutations

The paper investigates TARS1 loss-of-function mutations using engineered variants in yeast and mouse models, revealing new clinical phenotypes and heterogeneity.

A humanized yeast model reveals dominant-negative properties of neuropathy-associated alanyl-tRNA synthetase mutations

The paper demonstrates that neuropathy-associated AARS1 mutations exhibit dominant-negative effects by reducing yeast growth when co-expressed with wild-type AARS1.