Stanley F. Nelson

This study develops 3D-bridge antisense oligonucleotides that enhance exon 44 skipping in dystrophin mRNA, showing improved binding affinity and efficacy compared to conventional ASOs.

The paper presents a joint genomic analysis of UDN patients using whole genome sequencing and new statistical methods to prioritize disease genes, revealing new disease associations and releasing a software tool for cohort analysis.

The paper reports 37 new cases of RBM10 variants, identifies two phenotypic groups, and establishes a genotype-phenotype correlation based on functional studies.

The paper identifies DDX53 genetic variants in individuals with ASD, showing a link between DDX53 and ASD, and highlights implications for genetic testing and mouse modeling.

The paper identifies de novo RBBP5 variants in individuals with neurodevelopmental disorders and shows they cause loss of function through structural and Drosophila model analyses.

The paper uses full-length isoform sequencing to identify a splicing defect in MFN2 causing CMT2A in a patient with undiagnosed neuropathy.

The paper identifies de novo MRTFB variants in humans linked to a neurodevelopmental disorder and shows their gain of function activity in Drosophila with specific phenotypes.

The paper develops a method to isolate nuclei from frozen muscle samples and uses single nuclei transcriptomics to study dystrophin loss and rescue in human DMD and mdx mouse muscle.

This study identifies two RBSN missense variants causing a Mendelian disorder with muscle weakness and intellectual disability by disrupting endosomal recycling and lysosomal degradation.

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

The paper identifies de novo PRKAR1B variants in six individuals with neurodevelopmental disorder, autism, apraxia, and reduced pain sensitivity.

This paper identifies pathogenic structural variants in rare disease patients using whole genome sequencing and reports their clinical relevance.

This study identifies damaging variants in IRF2BPL associated with neurological phenotypes in humans and shows functional conservation in fruit flies.

The paper develops a method to assess the statistical significance of rare variants in Mendelian and complex disorders using genome-wide control data and applies it to multiple sequencing studies.