Christopher Schröder

Advancing molecular, phenotypic and mechanistic insights of FGF14 pathogenic expansions (SCA27B)

This study identifies the complete sequences of pathogenic and non-pathogenic FGF14 repeat expansions in patients with cerebellar ataxia, revealing a lower pathogenic threshold and providing mechanistic insights into disease causation.

Insane in the vembrane: filtering and transforming VCF/BCF files

The paper introduces vembrane, a VCF/BCF filtering tool that consolidates and extends filtering functionality using Python expressions.

Systematic analysis and prediction of genes associated with disorders on chromosome X

The paper systematically analyzes chrX genes to predict disease associations, identifying 235 genes likely involved in disorders and reporting damaging variants in CDK16 and TRPC5 in patients with intellectual disability or autism.

wg-blimp: an end-to-end analysis pipeline for whole genome bisulfite sequencing data

wg-blimp is an end-to-end pipeline for whole genome bisulfite sequencing data analysis that improves upon existing tools by offering a comprehensive workflow and interactive interface, validated on public datasets.