George A. Díaz

The NYCKidSeq randomized controlled trial: Impact of GUIA digitally enhanced genetic counseling in racially and ethnically diverse families

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.

Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients

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: A platform for phenotype-guided medical genomic diagnosis.

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

GUIA: a digital platform to facilitate result disclosure in genetic counseling

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: study protocol for a randomized controlled trial incorporating genomics into the clinical care of diverse New York City children

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