Andrea Hilary Nemeth

Neuropathy target esterase activity predicts retinopathy among PNPLA6 disorders

The paper identifies NTE activity as a biomarker for retinopathy and endocrinopathy in PNPLA6 disorders, using clinical and preclinical data to establish a genotype-activity-phenotype relationship.

The PREGCARE study: Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation

The paper presents a method to assess recurrence risk of de novo mutations in families using deep-sequencing and haplotyping, finding that 59% of DNMs had reduced risk below 0.1%.

Inhibition of the SUV4-20 H1 histone methyltransferase increases frataxin expression in Friedreich's ataxia patient cells

This study shows that inhibiting SUV4-20 H1 increases frataxin expression in FRDA cells and patient-derived cells, suggesting it as a therapeutic target.

Pheno4J: A Gene To Phenotype Graph Database

Pheno4J stores and queries genetic and phenotypic data in a graph database to improve efficiency for clinical genetic research.

Phenopolis: an open platform for harmonization and analysis of sequencing and phenotype data

Phenopolis provides an open platform for integrating and analyzing sequencing and phenotype data to aid in clinical diagnosis and gene discovery.