Jeremy R. Sanford

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

This paper identifies I3IN-002, a small molecule inhibitor of IGF2BP3, which shows anti-leukemic activity in cell lines and a mouse model.

This study identifies IGF2BP3's role in modulating miRNA targeting in MLL-AF4 leukemia by competing with AGO2 for 3'-UTR binding, thereby reducing miR-181a-mediated repression of oncogenic mRNAs.

This study shows IGF2BP3 regulates RNA methylation by altering cellular metabolism to increase SAM production, enhancing m6A modifications and gene expression in leukemia.

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

This paper develops tools to analyze alternative splicing dynamics during primate neuronal differentiation and identifies conserved and species-specific splicing patterns.

The paper uses long-read sequencing to study mRNA isoform-specific ribosome association during neuronal differentiation, finding that alternative splicing in coding and untranslated regions affects translational control.

The paper identifies cis-acting elements linking alternative splicing to translational control across primate species and shows sequence variation affects polyribosome association.

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.

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.

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

The paper investigates how HNRNPA1 influences U2AF2 RNA binding in vivo, showing it shifts U2AF2 to decoy splice site sequences and affects exon skipping.