Giuseppe Merla

This study identifies regulatory sequences of the Tbx1 gene and shows their deletion disrupts cardiopharyngeal lineage specification and embryonic patterning, leading to pharyngeal defects.

This study identifies an epigenetic signature at the FOXP3 distal enhancer in Kabuki syndrome patients that impairs Treg development, linking KMT2D loss to immune dysregulation.

The paper reports seven individuals with PLCG1 variants causing hearing, vision, cardiac, and immune issues, and shows these variants have gain-of-function effects in Drosophila models.

This study identifies TRIM8 as a multifunctional protein involved in mitotic regulation through multi-omics analysis, showing its role in transcription, translation, and ciliary function.

This study identifies T-UCstem1 as a key lncRNA regulating gastruloid development through DKK1-dependent modulation of WNT signaling, affecting anteroposterior axis extension and cellular identity.

The paper develops polygenic risk scores for surgical supravalvar aortic stenosis using variants from Williams syndrome patients, achieving high AUC and low misclassification rates.

The paper identifies novel non-synonymous variants associated with extreme vascular outcomes in Williams-Beuren syndrome through whole-genome sequencing and pathway analysis.

This study investigates how KMT2D mutations in Kabuki Syndrome disrupt neuronal function through chromatin and transcriptional changes, independent of H3K4me1.