Dana E. Layo-Carris

This paper describes a novel mouse model of Bryant-Li-Bhoj Syndrome that recapitulates key developmental and behavioral phenotypes, providing a platform for therapeutic testing.

This study creates a mouse model of TBCK Syndrome by knocking out the Tbck gene, revealing early neurodevelopmental phenotypes and systemic alterations consistent with the human disorder.

This paper uses an iPSC model of BLBS to show that the H3.3 L48R variant disrupts chromatin dynamics, neuronal differentiation, and electrophysiological function.

This study uses multi-omics analyses to show that TBCK deficiency disrupts ribosomal function, RNA splicing, and miRNA networks in TBCK-/- cells, providing insights into the molecular mechanisms of the disorder.

NeuroTri2-VISDOT provides a web-based tool to explore second trimester human single-cell RNA sequencing data for Mendelian neurodevelopmental disorders, aiding in model system selection.

The paper identifies age-dependent changes in MECP2 expression and associated behavioral and cellular phenotypes in a female mouse model of Rett syndrome.

The paper shows maternal experience induces lateralized changes in perineuronal net density in adult female mice, dependent on MECP2.