Michael D. Stone

A novel splice site variant in DEGS1 leads to aberrant splicing and loss of DEGS1 enzyme activity, a VUS resolved

The paper identifies a pathogenic splice site variant in DEGS1 causing aberrant splicing and loss of enzyme activity in individuals with HLD18.

OpenASO: RNA Rescue--designing splice-modulating antisense oligonucleotides through community science

This study uses community science and RNA structure prediction to design splice-modulating ASOs that enhance exon 16 splicing in a hemophilia A model.

Chemotherapeutic 6-thio-2-deoxyguanosine selectively targets and inhibits telomerase by inducing a non-productive telomere-bound telomerase complex

This study shows 6-thio-dG inhibits telomerase by forming a non-productive complex, affecting telomere maintenance in cancer cells.

Rescue of blood coagulation Factor VIII exon-16 mis-splicing by antisense oligonucleotides

The paper identifies a three-way junction structure in intron 15 that affects F8 pre-mRNA splicing and shows that antisense oligonucleotides targeting this structure can rescue splicing defects in Hemophilia A.

A new SARS-CoV-2 lineage that shares mutations with known Variants of Concern is rejected by automated sequence repository quality control

The paper reports a SARS-CoV-2 lineage with mutations from known variants of concern that is rejected by sequence repositories due to a deletion, suggesting underestimation of its frequency.

Splicing factor SRSF1 expands the regulatory logic of microRNA expression

The paper shows SRSF1 regulates microRNA biogenesis by interacting with pre-miRNAs and modulating cis-regulatory elements.