Dieter M. Egli

This study shows that DNA double-strand breaks in human embryos lead to chromosome loss through sister chromatid tethering and centromere-mediated separation.

This study shows that base editing in human embryos produces efficient on-target changes without chromosomal abnormalities or large deletions, unlike CRISPR/Cas9-induced DSBs.

The paper presents a high-resolution atlas of transcriptional regulatory elements in human tissues and disease states using PRO-cap and deep learning models to prioritize noncoding variants.

This study shows that a low nucleus-to-cytoplasmic ratio in haploid embryonic cells leads to cytokinesis failure, genome instability, and reduced development.

This study shows that CRISPR-Cas9 editing in human embryos is limited by slow DSB repair kinetics, leading to mosaicism and chromosomal abnormalities.

The paper shows that DNA replication patterns in early mammalian embryos are established early, with late replicating regions near the nuclear lamina showing fragility and predisposing long genes to genetic changes.

The paper examines DNA replication timing in iPSCs, finding that some exhibit delayed replication at heterochromatic regions, which persists through differentiation and may affect their quality.

The paper profiles DNA replication timing in haploid and diploid human ESCs, identifying delayed replication in autosomal regions and linking it to X chromosome dosage and polyploid cell underreplication.

This study identifies genetic regulators of DNA replication timing in human pluripotent stem cells, revealing a histone code and combinatorial regulatory mechanisms.

The paper evaluates Cas9-induced repair outcomes at the EYS locus in human embryos, showing microhomology-mediated end joining restores reading frames without mosaicism, while unrepaired breaks lead to chromosome loss.

This paper demonstrates the use of nanopore sequencing to detect thymidine analogs incorporated during DNA replication, enabling high-resolution analysis of replication fork dynamics.

NanoMod detects DNA modifications from Nanopore sequencing data by comparing signal distributions between modified and unmodified samples.