Markus Schuelke

The paper introduces circVDJ-seq for efficient T cell receptor profiling from single-cell and spatial multi-omics data, revealing distinct immune microenvironments and T cell clonality patterns in various clinical contexts.

The paper quantifies how single nucleotide variants affect NKX2.1 transcription factor binding and uses neural networks to predict disease-causing variants in regulatory regions.

The paper identifies repurposable drugs for mitochondrial disease by using deep learning to screen for compounds that improve neuronal commitment and neurogenesis in Leigh syndrome organoids.

The paper uses RNA-sequencing to show that THRA2 is predominantly expressed in human brain development and adult central nervous system tissues.

MoleMap provides a fast, alignment-free molecule mapping tool for long-read and linked-read sequencing data, outperforming existing methods in speed and memory usage.

This study analyzes 2,023 pediatric exomes to diagnose mitochondrial disease, identifying 1,109 molecular diagnoses and 62 novel disease genes through exome sequencing and functional studies.

This study shows SURF1 mutations impair human neurogenesis by generating patient-derived iPS cells and demonstrating defects in neuronal differentiation and bioenergetics.

The paper presents the hybrid genome assembly and annotation of Danionella translucida, a small transparent vertebrate with a rich behavioral repertoire.

Phenotero integrates ontology annotation into writing workflows by leveraging Zotero to reference ontology classes in clinical reports and manuscripts.

The paper identifies a PRG1 mutation that modifies SCN1A-related epilepsy in humans by exacerbating seizure susceptibility in a mouse model.