Benjamin W. Darbro

This study shows that PHB complex ablation in cardiomyocytes leads to mTORC1 activation and metabolic reprogramming, causing dilated cardiomyopathy and mortality in mice.

The paper uses genome sequencing data and machine learning to identify genetic factors associated with anosmia and ageusia in COVID-19 patients.

This study shows that intratumoral plasma cells are essential for CD8+ T cell activation and response to immune checkpoint blockade therapy in MPNSTs.

The paper identifies a heterozygous KRT32 variant causing autosomal dominant loose anagen hair syndrome and shows it reduces binding affinity to KRT82, impairing hair shaft anchoring.

The paper identifies lineage-specific mutability patterns in SARS-CoV-2 spike protein to predict future mutations and guide vaccine/therapeutic design.

The paper identifies rare mutations in SIX1, PDGFRA, and KDR/VEGFR2 associated with OAVS phenotypes through whole genome sequencing and statistical analysis of a family.

Benign-Ex identifies genome regions tolerant to copy number variation by integrating CNV databases, finding 41.1% and 37.6% of the genome benign using DGV and ClinGen respectively.

DISCRIMINATOR assigns provisional pathogenicity classifications to CNVs in a cohort, identifying common benign and primary CNVs and improving classification consistency.

The paper introduces VarCount for variant calling and identifies enrichment of compound heterozygous variants in epilepsy-related genes using Epi4k and 1000 Genomes data.

This study characterizes pain and sleep behaviors in a porcine model of NF1, identifying sex-dependent differences and potential therapeutic targets.