Thomas Malachowski

The paper identifies H3K9me3 variation at BREACHes in FXS patients and shows it improves prediction of cognitive metrics when combined with FMRP and BREACH gene mRNA levels.

MASTR-seq enables cost-effective, high-throughput, and accurate measurement of STR length and DNA methylation at single-allele resolution using nanopore sequencing.

The paper shows that in fragile X syndrome, long-range heterochromatinization of distal synaptic genes with STR instability is reversible by overexpression of a pre-mutation-length CGG tract.