Marijke P. A. Baltissen

Roles of Neuromedin-U and Endothelin-1 in human cardiac organoid differentiation

This study identifies Neuromedin-U (NMU) and Endothelin-1 (ET-1) as key signaling factors influencing cardiomyocyte differentiation and electrophysiology in human cardiac organoids.

Insights into the FOXE3 Transcriptional Network and Disease Mechanisms from the Investigation of a Regulatory Variant Driving Complex Microphthalmia

The paper identifies a regulatory variant driving microphthalmia by analyzing its effects in mouse models and linking it to FOXE3 expression and ocular development.

Targeted p63 isoform switch corrects dominant mutations in AEC syndrome without disrupting epidermal homeostasis

This study shows that switching to the p63{beta} isoform can correct AEC syndrome mutations in human keratinocytes without disrupting skin homeostasis.

Cardiac differentiation roadmap for analysis of plasticity and balanced lineage commitment

The paper compares cardiac differentiation trajectories in different culture conditions and identifies ZNF711 as a regulator of cardiomyocyte commitment and lineage balance.

Chromatin regulates genome-wide transcription factor binding affinities

The paper quantifies how chromatin context affects transcription factor binding affinities genome-wide and shows DNA accessibility is the main determinant.

Chromosomal instability by mutations in a novel specificity factor of the minor spliceosome

The paper identifies biallelic mutations in CENATAC as a cause of constitutional aneuploidy by disrupting minor intron splicing and causing chromosome segregation errors.

Systematic identification of human SNPs affecting regulatory element activity

The paper identifies over 30,000 SNPs affecting regulatory element activity using SuRE reporter technology, linking them to gene regulation and potential human traits.