Maria Cristina Digilio

Loss-of-function of the Zinc Finger Homeobox 4 (ZFHX4) gene underlies a neurodevelopmental disorder

This study identifies ZFHX4 loss-of-function variants as a cause of a neurodevelopmental disorder with distinctive facial features and brain abnormalities, supported by zebrafish models.

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.

Chromatin regulators in the TBX1 network confer risk for conotruncal heart defects in 22q11.2DS and sporadic congenital heart disease

The paper identifies chromatin regulatory genes as genetic modifiers of conotruncal heart defects in 22q11.2 deletion syndrome and links them to sporadic congenital heart disease.

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.

Left Pulmonary Artery in 22q11.2 deletion syndrome. Echocardiographic evaluation in patients without cardiac defects and role of Tbx1 in mice.

The paper evaluates left pulmonary artery dimensions in 22q11.2DS patients without cardiac defects and finds reduced LPA/RPA ratios, supported by Tbx1 mutant mouse studies showing similar anomalies.

Analysis of DICER1 in familial and sporadic cases of Transposition of the Great Arteries

The paper screens for DICER1 mutations in TGA patients and finds no apparent pathological mutations.