Karen Sermon

This study shows that loss of chromosome 18q in hESCs impairs differentiation into retinal progenitor cells by disrupting TGFβ signaling and anteroposterior neuroectodermal fate commitment.

The paper investigates the cellular consequences of aneuploidy in human blastocysts, finding p53-mediated apoptosis and impaired lineage segregation.

This study tracks genetic changes in human pluripotent stem cells over time, finding that recurrent chromosomal gains drive the accumulation of other mutations.

The paper investigates the role of YAP1 and TEAD1 in lineage segregation during human pre-implantation embryos, showing their involvement in trophectoderm and primitive endoderm formation independent of polarity.

The paper identifies mtDNA variants in ART and spontaneously conceived individuals linked to lower birth weight, showing sex-dependent effects and maternal aging influences.

The paper shows that mtDNA mosaicism arises early in human preimplantation development and persists into adulthood through asymmetric mitochondrial distribution.

This study shows that MSH2 knock-down stabilizes CTG repeats and reduces upstream CpG methylation in DM1 hESCs, suggesting a link between DNA repair and epigenetic changes in DM1.