Camille Alba

A spatial gene expression signature of the mouse brain post-injury at the focal point of contusion

This study examines spatial gene expression changes in the mouse brain after focal TBI, identifying region-specific transcriptional responses and the role of immune cells in modulating post-injury gene activity.

Missense and Loss of Function Variants at GWAS Loci in Familial Alzheimer's Disease

The paper examines rare missense and loss of function variants in GWAS loci for Alzheimer's disease across families, finding that many families lack identifiable variants beyond APOE-e4.

Rare genetic variation in Fibronectin 1 (FN1) protects against APOEe4 in Alzheimer's disease

The paper identifies rare FN1 variants that protect APOEε4 carriers from Alzheimer's disease by modulating extracellular matrix deposition and gliosis.

A modified dual preparatory method for improved isolation of nucleic acids from laser microdissected fresh-frozen human cancer tissue specimens

The paper describes a modified dual preparatory method to improve RNA yield from laser microdissected human cancer tissue samples.

ImmunoTyper-SR: A Novel Computational Approach for Genotyping Immunoglobulin Heavy Chain Variable Genes using Short Read Data

ImmunoTyper-SR genotypes IGHV alleles from short read data and identifies associations between IGHV alleles and anti-type I IFN autoantibodies in COVID-19 patients.

Pathway analysis identifies novel non-synonymous variants contributing to extreme vascular outcomes in Williams-Beuren syndrome

The paper identifies novel non-synonymous variants associated with extreme vascular outcomes in Williams-Beuren syndrome through whole-genome sequencing and pathway analysis.