Melissa Wasserstein

The paper develops a comprehensive list of genetic conditions for genomic newborn screening, including 777 conditions associated with 743 genes, for implementation across multiple U.S. states and territories.

The paper evaluates the impact of GUIA, a digital genetic counseling tool, on understanding of genetic test results in diverse families, finding improved understanding in the intervention group.

This study compares the diagnostic yield of genome sequencing and targeted gene panel testing in diverse pediatric patients, finding higher yields with genome sequencing in most groups but not all.

GenomeDiver improves genomic diagnosis by enabling clinicians to input structured phenotypic data to guide gene prioritization and enhance collaboration with diagnostic labs.

GUIA is a web-based platform designed to improve the delivery of genomic results to patients and families, showing positive feedback from pilot users.

The NYCKidSeq project evaluates the clinical utility and communication of genomic testing in diverse children through a randomized controlled trial.