Glenda M. Beaman

Deletion of CH25H and LIPA Genes in Human Abolishes Biosynthesis of 25-Hydroxycholesterol but not of 7alpha,25-Dihydroxysterols and Enhances Non-enzymatic Cholesterol Oxidation: Metabolic Changes are Partially Reversed by Hematopoietic Stem Cell Transplant

This study shows that deleting CH25H and LIPA genes in humans eliminates 25-hydroxycholesterol but not 7alpha,25-dihydroxysterols, and increases cholesterol oxidation, which is partially reversed by hematopoietic stem cell transplant.

Genetic Risk of Axonal Neuropathy Following Infection

The paper identifies biallelic RCC1 variants causing an acute axonal neuropathy triggered by infection, with mechanistic overlap with ALS and GBS.

Mixed ancestry analysis of whole-genome sequencing identifies TBX5 and PTK7 as susceptibility genes for posterior urethral valves

Germline intergenic duplications at Xq26.1 underlie Bazex-Dupre-Christol syndrome, an inherited basal cell carcinoma susceptibility condition

The paper identifies intergenic duplications at Xq26.1 as the genetic cause of Bazex-Dupre-Christol syndrome, linking them to ARHGAP36 dysregulation and BCC susceptibility.

Functional and in-silico interrogation of rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders

This paper develops an in-silico and functional analysis framework to identify splicing mutations in rare genomic disorders, finding that SpliceAI prioritization improves diagnostic clarity and yield.

Whole genome sequencing enables definitive diagnosis of Cystic Fibrosis and Primary Ciliary Dyskinesia

The paper uses whole genome sequencing to identify disease-causing variants in non-coding regions of genes, confirming diagnoses of Cystic Fibrosis and Primary Ciliary Dyskinesia.

Inherited BRCA1 epimutation as a novel cause of breast and ovarian cancer

The paper identifies inherited BRCA1 promoter hypermethylation as a novel cause of breast and ovarian cancer in two families without germline BRCA1/2 pathogenic variants.