Rebecca Schüle

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 uses long-read RNA sequencing to analyze transcript diversity and regulation in human fibroblasts, induced pluripotent stem cells, and cortical neurons, revealing transcript-specific changes in disease-related genes.

The paper reanalyzes exome sequencing data from rare disease cases to identify previously undetected copy number variants, resulting in diagnoses for 51 families and partial explanations for 34 individuals.

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 study uses microfluidic RNA-seq to analyze axonal transcriptomes from iPSC-derived neurons, revealing unique transcriptional features and highlighting the role of KIF1C in axonal health and neurodegeneration.

This study identifies KIF1C as a neuronal transporter of the exon junction complex, showing its interaction with EJC components and RNA, and links its dysfunction to motoneuron degeneration.

The paper identifies an enrichment of rare protein-truncating variants in ALS patients, highlighting novel genes like DNAJC7 and known ALS genes such as SOD1, NEK1, and FUS.