Maja Hempel

The paper identifies two distinct FBXO31 variants causing different neurodevelopmental disorders: a dominant gain-of-function variant and a recessive loss-of-function deletion.

The paper identifies a new genotypic configuration in twins with neurodevelopmental disorder, suggesting a previously unrecognized mutagenesis pathway.

EAGER establishes a registry of autistic individuals and those with rare genetic conditions for genomic and phenotypic research, aiming to improve clinical trials and health outcomes through data sharing.

The paper evaluates a structured diagnostic framework for ultra-rare diseases, showing improved genetic diagnoses and novel gene-disease associations using exome sequencing and AI tools.

The paper implements RNA-seq in diagnostics for Mendelian diseases, achieving a 16% diagnosis rate in WES-inconclusive cases by detecting aberrant expression, splicing, and mono-allelic expression.

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 identifies 25 individuals with DHX30 mutations, showing two clinical subtypes based on variant type and severity of developmental and neurological symptoms.

Adding tandem mass tag proteomics to genome and transcriptome data resolved 22% of 121 unsolved suspected mitochondrial disease cases and surfaced two new disease genes.

The paper reports two individuals with GLE1 mutations surviving beyond the perinatal period, expanding the phenotype of LAAHD to include childhood survival.