Julia Hentschel

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.

The paper assesses parental mosaicism in families with de novo variants, finding 4.4% parental mosaicism and proposing amplicon-based sequencing for improved recurrence risk assessment.

This study identifies de novo KDM2A variants as a cause of a syndromic neurodevelopmental disorder with specific clinical features and functional consequences.

This study identifies optimal tissues for germline genetic testing post-stem cell transplantation, finding buccal swabs and nails have higher donor DNA than eyebrow hair.

altAFplotter detects uniparental disomies in NGS data by analyzing runs of homozygosity and variant inheritance ratios, providing a web tool for reliable UPD analysis.

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 re-analyzes 152 exomes from developmental disorder families five years later, finding 20% clinically relevant changes and reclassifying variants.

The paper identifies a novel syndrome caused by the gain-of-function variant p.Glu1099Lys in NSD2, leading to distinct clinical features compared to loss-of-function variants.

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