Kurt Z. Haas

SCADR assesses PTEN missense variants' effects on signaling pathways through single-cell phospho-antibody analysis, revealing variant-specific dysfunction profiles.

The paper curates RNA-seq data of palmitoylating and de-palmitoylating enzymes in the mouse brain and identifies region and cell-type specific expression patterns.

The paper shows sensory input directs dendritic growth and synapse clustering in developing neurons through activity-dependent pruning and new synaptogenesis.

The paper analyzes 58 SYNGAP1 variants using multiple assays to assess their impact on GTPase signaling, localization, and protein stability, revealing functional differences and pathogenicity classifications.

The paper introduces a method to assess the functional impact of human disease gene variants using yeast-based assays.

The paper evaluates 106 PTEN variants using 18 assays across 5 models to identify molecular mechanisms of dysfunction, finding that stability and domain-specific assays are critical for accurate impact assessment.

This study systematically analyzes ASD-associated genes in C. elegans, identifying phenotypic relationships and reversible impairments in habituation learning.