Diana Le Duc

The paper constructs a transcriptomic BMI model to identify molecular differences between metabolically healthy and unhealthy obesity in humans and validates it in mice.

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.

The paper describes the prenatal phenotype of PNKP-related primary microcephaly and characterizes the effects of variants using RNA analysis and structural modeling.

The paper evaluates negative exome sequencing in neurodevelopmental disorders by systematically scoring candidate genes to improve prioritization and validation.