Mariya Shadrina

The paper identifies new tandem repeat expansion associations with neurodegenerative diseases using large-scale genomic data from diverse populations.

The paper genotypes CNVs from genome sequencing read depth in the UK Biobank and identifies 501 CNVs associated with 1,537 traits.

This study identifies IgG's pro-atherogenic role through noncanonical activation of macrophages, independent of its classical function, by acting as a TLR4 ligand and promoting inflammation.

This study identifies 25 cellular subsets in thoracic aortic aneurysm tissue and links FGF-23 as a plasma biomarker associated with aortic diameter and disease.

This study identifies 47 tandem repeat variants associated with 73 traits in 168,554 UK Biobank individuals, highlighting their role in missing heritability.

This paper presents an informatic method to identify germline de novo mutations in family trios using consensus across variant callers, achieving high precision and recall.

The paper identifies a GCC repeat expansion in AFF3 as a significant cause of intellectual disability through a phenome-wide association study using DNA methylation profiling and UK Biobank data.