Angela Peron

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.

BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations

This study defines the clinical spectrum and genotype-phenotype correlations of BCL11A-IDD by analyzing 75 patients with molecular and clinical data.

GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases

The paper introduces the GestaltMatcher Database (GMDB), a global facial phenotypic reference for rare diseases, showing improved NGP performance with diverse ancestry data.

SETBP1 variants outside the degron disrupt DNA-binding and transcription independent of protein abundance to cause a heterogeneous neurodevelopmental disorder

The paper investigates SETBP1 variants outside the degron, showing they cause a heterogeneous neurodevelopmental disorder through loss-of-function mechanisms independent of protein abundance.

Characterization of Intellectual disability and Autism comorbidity through gene panel sequencing

The paper develops a low-cost NGS gene panel for diagnosing intellectual disability and autism spectrum disorder, achieving a 27% diagnostic yield in 150 patients.