Linnaeus Bundalian

SyMetrics evaluates the pathogenicity of synonymous variants using a machine learning model that integrates multiple predictors, achieving high accuracy in distinguishing deleterious from benign variants.

This study evaluates the diagnostic yield of monogenic obesity in 521 patients using exome-wide data, finding 5.8% with monogenic obesity and 7.1% with potentially obesogenic variants.

This study shows that overexpression of the Drosophila Bchs gene, an ortholog of human WDFY3, causes neural developmental issues in both neurons and glial cells, mirroring human neurodevelopmental disorders.

The paper identifies rare genetic variants associated with different epilepsy types, finding the most enrichment in non-acquired focal epilepsy.

The paper identifies altered gene expression patterns in 15q13.3 microdeletion carriers, showing dysregulation of genes involved in brain development and contributing to phenotypic variability.