Matthew J. Walter

This study identifies SRSF2 and U2AF1 mutations as biomarkers of sensitivity to ATR-CHK1 pathway inhibitors and RUNX1 mutations as a mechanism of resistance in MDS/AML.

This paper uses long-read cDNA sequencing to identify novel transcripts and spliceosome-mutant-enriched isoforms in AML and MDS, providing a resource for improving short-read RNA-seq analyses.

The paper identifies a GRCh38 reference sequence change that prevents detection of U2AF1 mutations and provides a modified reference to address this issue.