Jill R. Murrell

Novel tau filament folds in individuals with MAPT mutations P301L and P301T

The paper reports cryo-EM structures of tau filaments from individuals with P301L and P301T MAPT mutations, revealing distinct filament folds associated with FTDP-17.

Tau filaments with the Alzheimer fold in cases with MAPT mutations V337M and R406W

The paper determines the structures of tau filaments in individuals with MAPT mutations V337M and R406W using cryo-EM, finding the Alzheimer fold in all cases and a new triple filament assembly.

Human Germline Heterozygous Gain-of-Function STAT6 Variants Cause Severe Allergic Disease

This study identifies heterozygous gain-of-function STAT6 variants in two patients with severe allergic disease and shows JAK inhibitors reduce the enhanced STAT6 responses.

Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior

The paper identifies RFX3, RFX4, and RFX7 mutations as causes of neurodevelopmental disorders including autism, ADHD, and intellectual disability, and links these genes to ASD risk genes through bioinformatic analysis.

Systematic and comprehensive benchmarking of an exome sequencing based germline copy-number variant detection pipeline to detect clinically relevant CNVs

This study benchmarks an exome sequencing-based CNV detection pipeline, showing improved sensitivity and reduced false discovery rate for clinically relevant variants.