Elizabeth M. Gonzalez

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 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.

CloneRetriever identifies and retrieves rare clones from heterogeneous populations to study clonal fitness and selection mechanisms.