Jeffrey M. Verboon

Spatiotemporal Dynamics of Protein Recruitment During Cell Wound Repair

This study identifies 129 proteins recruited to cell wounds during repair using a genetic screen in Drosophila, revealing Rab GTPases' roles in actin dynamics and repair steps.

Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis

This study evaluates genome sequencing's diagnostic yield in a cohort of undiagnosed rare disease patients, finding it solves 29.3% of cases with specific variant types not detectable by exome sequencing.

Single-cell multi-omics reveals dynamics of purifying selection of pathogenic mitochondrial DNA across human immune cells

The paper uses single-cell multi-omics to study how pathogenic mtDNA mutations are subject to purifying selection in immune cells from Pearson syndrome patients.

Autocrine insulin pathway signaling regulates actin dynamics in cell wound repair

The paper identifies the role of the insulin signaling pathway in regulating actin dynamics during cell wound repair in Drosophila.

Genetic Analyses of Blood Cell Structure for Biological and Pharmacological Inference

This study performs GWAS on blood cell flow-cytometry phenotypes, identifies variant-trait associations, and links them to cellular structures and disease mechanisms.

The Genetic Landscape of Diamond-Blackfan Anemia

This study identifies genetic mutations in 78% of Diamond-Blackfan anemia patients using whole exome sequencing, finds new RP genes, and reports genotype-phenotype associations.