Athina Ververi

The paper develops a machine learning model to prioritize genes for newborn sequencing programs based on factors like evidence of disease natural history and treatment efficacy.

This paper identifies loss-of-function variants in ZFHX3 as a cause of syndromic intellectual disability and describes its role in chromatin remodeling and DNA methylation.

The paper identifies novel truncating mutations in CTNND1 associated with craniofacial and cardiac anomalies, expanding the known phenotypic spectrum of the gene.