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Graph genotyping of structural variation in diverse human populations reveals functional associations and signatures of local adaptation within poorly resolved regions of the genome.

Silencers and enhancers targeted by a common transcription factor in photoreceptors are distinguished by the number and diversity of binding transcription factor binding sites they contain.

Larger evoked responses during initial cortical processing may reflect states of lower excitability.

Spatial variations of transcription factor expression regulate the choice of progenitors to stay in their niche or to migrate into neural and mesodermal tissues.

GTPBP7, NSUN4, and MTERF4 facilitate maturation of the peptidyl transferase center of the mitochondrial ribosome.

RNAseq and ATACseq are utilized to identify transcription factors participating in striatal compartmentation into striosome and matrix, and roles for Stat1, Olig2, and Foxf2 are validated in vitro and in vivo.

Stress-induced alternative translation of an otherwise common gap junction protein generates an isoform that orchestrates protective mitochondrial fission and organ protection during anticipated ischemia.

The mammalian Y chromosome has become specialised for male fertility, but exact functions of individual Y genes remain poorly understood, a knowledge gap that new approaches can bridge.

The endoplasmic reticulum (ER) uses ER tubules and specific ER autophagy machinery to prevent toxic, dominant-interfering, disease-causing, mutant proteins from entering the secretory pathway.

The identification of SMA-miR supports the pathogenic role of skeletal muscle in spinal muscular atrophy and, integrated in the SMA-score, may help to improve the phenotypic prediction for patients.