Eva R. Hoffmann

Pulsed-SILAC in single mouse embryos reveals early embryonic protein synthesis dynamics and phosphosite regulation

The paper uses pulsed-SILAC in single mouse embryos to study protein synthesis dynamics and phosphosite regulation during early embryogenesis, revealing active maternal proteome synthesis and post-translational regulation.

Loss of FANCM impairs primordial germ cell differentiation in vitro

This study shows that FANCM loss in a mouse in vitro primordial germ cell model reduces PGCLC formation, indicating its critical role in early germline development.

Maternal age and genome-wide failure of meiotic recombination are associated with triploid conceptions in humans

The paper investigates the association between maternal age and meiotic recombination failure with triploid/haploid conceptions in humans, identifying a maternal age effect and new types of genome-wide maternal isodiploidy.

PARP1 regulates establishment of the ovarian reserve and age at natural menopause

This study identifies a variant in PARP1 associated with earlier menopause by affecting primordial germ cell fate through altered DNA binding and transcriptional regulation.

Common variation in meiosis genes shapes human recombination phenotypes and aneuploidy risk

The paper identifies genetic variants in meiosis genes associated with recombination phenotypes and aneuploidy risk using preimplantation genetic testing data.

Sex-Specific DNA-Replication In The Early Mammalian Embryo

The paper investigates DNA replication timing in mouse zygotes and 2-cell embryos, revealing an asynchronous replication program in 2-cell embryos that differs from embryonic stem cells.

Pan-cancer association of DNA repair deficiencies with whole-genome mutational patterns

The paper identifies DNA repair deficiency genes using mutational patterns and develops predictive models for their loss-of-function variants across cancers.

Genome-wide analysis identifies genetic effects on reproductive success and ongoing natural selection at the FADS locus.

This study identifies 43 genomic loci associated with reproductive success in 785,604 individuals, showing ongoing natural selection at the FADS locus.

CHK1-CDC25A-CDK1 regulate cell cycle progression in early mouse embryos to protect genome integrity

This study identifies CHK1's role in regulating cell cycle progression in early mouse embryos to maintain genome integrity and prevent aneuploidy.

Genetic susceptibility to earlier ovarian ageing increases de novo mutation rate in offspring

The paper identifies genetic variants linked to ovarian ageing and shows they increase offspring de novo mutation rates, demonstrating heritability of female mutation rate.

Fancm regulates meiotic double-strand break repair pathway choice in mammals

This study shows Fancm deficiency increases crossover frequencies and disrupts gametogenesis in mice, with potential implications for human genomic instability disorders.

A standardized approach for case selection and genomic data analysis of maternal exomes for the diagnosis of oocyte maturation and early embryonic developmental arrest in IVF

The paper develops a methodology for selecting IVF cases with oocyte maturation defects and preimplantation embryo lethality, using whole-exome sequencing and bioinformatics to identify causative genetic variants.

SureTypeSC - A Random Forest and Gaussian Mixture predictor of high confidence genotypes in single cell data

SureTypeSC is a machine learning tool that improves genotype calling in single-cell data by filtering noise from whole genome amplification.

Genetic predisposition to mosaic Y chromosome loss in blood is associated with genomic instability in other tissues and susceptibility to non-haematological cancers

The paper identifies genetic determinants of mosaic Y chromosome loss in blood and links it to genomic instability and non-haematological cancer risk.

Tripolar mitosis drives the association between maternal genotypes of PLK4 and aneuploidy in human preimplantation embryos

The paper identifies tripolar mitosis as a mechanism causing aneuploidy in human embryos and links it to maternal PLK4 genetic variants.