David R. Beier

The paper uses single-nucleus transcriptomics to study precystic kidney dysfunction in PKD, identifying a signaling pathway and gene (Creb5) involved in early cystogenesis.

The paper identifies four spontaneous mutations that confer survival in a thrombosis model by reducing platelet aggregation and altering gene expression.

This study identifies proteasome factors as contributors to heart development and congenital heart defects using a systems genetics approach combining transcriptomics, PPI networks, and CRISPR screening in zebrafish.

The paper presents an improved chromosome-scale genome assembly for the African spiny mouse using long Nanopore reads and validates it with RNA-seq data.

The paper uses single-cell RNA sequencing to systematically phenotype mouse genetic models, identifying molecular and cellular changes across multiple mutants and wildtypes.

This study shows that Reelin is essential for Cajal-Retzius cell positioning and fimbriodentate junction formation in the hippocampus, affecting dentate gyrus morphology.

The paper investigates the differential requirements of tubulin genes in mouse forebrain development, showing that some are essential while others are not.

The paper assesses the applicability of the mutation-selection balance model to human protein-truncating variants using simulations and data from exome datasets.

This study shows African Spiny mice can repair kidney injury without fibrosis, unlike mice, suggesting evolutionary adaptations for organ regeneration.

The paper estimates genome-wide selection coefficients for heterozygous protein truncating variants using exome data from 60,706 individuals and identifies genes under strong selection.