Inês Cebola

This study identifies KLF6 as a key driver of endothelial dysfunction in pulmonary arterial hypertension, showing its role in promoting vascular remodelling and angioproliferative lesions.

The paper identifies BX-912 as a compound that rescues SOX17 gene targets and prevents pulmonary hypertension in mice.

The paper conducts a large-scale rare variant GWAS meta-analysis of type 2 diabetes, identifying novel variants in monogenic diabetes genes and assessing their pathogenicity.

This study shows that LKB1 deletion in mouse pancreatic beta cells causes widespread chromatin accessibility changes and affects gene expression, including neuronal genes.

This study identifies DNA methylation changes associated with extreme obesity and finds causal effects on obesity and metabolic disturbances using Mendelian Randomisation.

This study identifies regulatory de novo mutations in fetal brain-specific enhancers as a significant contributor to intellectual disability.

The paper identifies de novo variants in fetal brain enhancers linked to intellectual disability by analyzing genomic data from affected individuals and their parents.

The paper links diabetes-associated enhancers with their target genes using 3D chromatin architecture in human pancreatic islets, revealing genetic variants that impact insulin secretion heritability.

This study identifies common genetic variants associated with pulmonary arterial hypertension risk and survival, focusing on HLA-DPA1/DPB1 and a SOX17 enhancer locus.