Hayk Barseghyan

The paper develops rat models with modified sex chromosomes to study sex differences in physiology and disease by comparing XX vs. XY and varying X/Y chromosome numbers.

This paper uses long-read sequencing to comprehensively identify pathogenic variants in the CYP21A2 locus for Congenital Adrenal Hyperplasia, including phasing and module counts, improving diagnostic accuracy.

The paper develops criteria for identifying, sharing, and reporting novel candidate genes in clinical genomic testing to improve diagnostic yield for Mendelian conditions.

The paper identifies a frameshift mutation in Pkhd1 causing a cystic liver phenotype in mice and shows alternative splicing leads to reduced Pkhd1 protein levels and attenuated renal cystic disease.

This study compares optical genome mapping (OGM) and chromosomal microarray (CMA) for detecting copy number variants and structural variants, finding high concordance and additional structural insights from OGM.

The paper develops a method to deconvolve cell-type mixtures using enhancer-promoter methylation profiles from long-read data, achieving higher accuracy than promoter-based approaches.

nanotatoR annotates structural variants using OGM data, providing comprehensive information for pathogenicity assessment and variant prioritization.

This study identifies DHX37 variants as a novel molecular cause of 46,XY gonadal dysgenesis, particularly in embryonic testicular regression syndrome.

This study identifies damaging variants in IRF2BPL associated with neurological phenotypes in humans and shows functional conservation in fruit flies.