Annabel K. Sangree

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 paper identifies key factors regulating H2BE incorporation, localization, and eviction in neuronal chromatin, revealing chaperones and complexes involved in its dynamics.

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 shows that H2BE is required for activity-dependent gene expression and homeostatic scaling in neurons.

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 introduces the in4mer CRISPR/Cas12a platform for efficient multiplex gene knockout, demonstrating improved sensitivity and reduced clone numbers compared to CRISPR/Cas9.

The paper benchmarks SpCas9 variants to improve base editor screens for BRCA1 and BCL2, identifying new insights into their genetic variants.

This paper uses CRISPR-Cas9 base editors in pooled screens to assess the functional impact of human variants, identifying loss-of-function mutations and drug sensitivity/resistance mutations.

This paper optimizes AsCas12a for combinatorial genetic screens in human cells by improving on-target and off-target activity and enabling higher-order multiplexing.

The paper presents a method to generate isogenic cell pairs and screen them with CRISPR-Cas9 libraries to identify genetic interactions, demonstrating applications for BCL2L1, MCL1, and PARP1.