Hanns Lochmüller

The paper presents a standardized RNA-seq analysis framework for rare disease diagnosis, identifying molecular diagnoses in 7.7% of previously undiagnosed cases.

This study identifies cell-type-specific adaptations to mitochondrial stress in MTRFR mutations, showing cortical neurons activate survival programs while motor neurons undergo apoptosis.

This study shows that acute AMPK activation fails to improve insulin signaling in DM1 mouse and human models, indicating impaired insulin resistance mechanisms.

This study tests a MuSK agonist antibody in Agrn-CMS and ColQ-CMS mouse models, showing benefit in Agrn-CMS but not ColQ-CMS, highlighting gene-specific treatment responses.

The paper develops and validates SMA Finder, a tool to diagnose spinal muscular atrophy in genome, exome, and panel sequencing data, identifying known and novel cases with high accuracy.

The paper identifies biallelic RCC1 variants causing an acute axonal neuropathy triggered by infection, with mechanistic overlap with ALS and GBS.

The paper uses HiFi long-read sequencing to identify genetic variants in undiagnosed rare disease families, finding novel diagnoses in 13% of cases and candidate variants in 4.3%.

This paper uses multilayer network analysis to identify molecular determinants of severity in Congenital Myasthenic Syndromes by integrating protein-protein interactions, pathways, and metabolomics data.

The paper identifies six rare de novo missense variants in WDR5 associated with neurodevelopmental disorders and highlights their impact on COMPASS family protein interactions.

The paper introduces the GA4GH Phenopacket schema to standardize the exchange of phenotypic data for precision medicine applications.

This study identifies a synaptic mechanism linking collagen VI to motor control through cannabinoid receptor interaction and shows that CB1R agonists can improve motor performance in a dystonia mouse model.

The paper identifies a metabolic shift involving amino acid availability and mitochondrial biogenesis as the mechanism underlying recovery in reversible infantile respiratory chain deficiency.