Johannes Zschocke

HiFi sequencing accurately identifies clinically relevant variants in paralogous genes

This study shows that PacBio HiFi long-read sequencing with Paraphase variant caller detects all clinically relevant variants in paralogous regions, improving variant calling accuracy.

TXNIP mediates LAT1/SLC7A5 endocytosis to reduce amino acid uptake in cells entering quiescence

The paper identifies TXNIP as a regulator of amino acid uptake during cellular quiescence by mediating endocytosis of the LAT1/SLC7A5 transporter.

Biochemical signatures from dried blood spots in untargeted metabolics are influenced by matrix effects

The paper investigates matrix effects on metabolite recovery from dried blood spots (DBS) and shows that despite these effects, DBS can be used for diagnostics with proper validation.

Mitochondrial cardiolipin metabolism controlled by tafazzin enables ferroptosis

The paper shows that tafazzin deficiency in Barth Syndrome protects against ferroptosis by altering mitochondrial cardiolipin metabolism, affecting VDAC function and reducing ROS availability for ferroptosis.

PEDIA: Prioritization of Exome Data by Image Analysis

The paper introduces an AI-driven method that uses facial images to prioritize exome data, achieving 99% top-10 accuracy in identifying disease-causing genes.

A homozygous variant in mitochondrial RNase P subunit PRORP is associated with Perrault syndrome characterized by hearing loss and primary ovarian insufficiency

The paper identifies a homozygous variant in KIAA0391 (PRORP) as a cause of Perrault syndrome, showing reduced mitochondrial RNase P activity and impaired tRNA processing.