Gabriella Maria Squeo

Novel ciliary protein TRIM8 is a multifunctional workhorse during mitosis

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.

Identifying individuals at risk for surgical supravalvar aortic stenosis by polygenic risk score with graded phenotyping

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

Pathway analysis identifies novel non-synonymous variants contributing to extreme vascular outcomes in Williams-Beuren syndrome

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

KMT2D haploinsufficiency in Kabuki Syndrome disrupts neuronal function through transcriptional and chromatin rewiring independent of H3K4-monomethylation

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