Educational Resource Hub

GeneDx offers more than a test. We’re dedicated to advancing the field of genomics—so more patients get answers.

Clinical Practice Guidelines

Conferences & Events

Thank you! Your submission has been received!

Oops! Something went wrong while submitting the form.

Publications

Peer-reviewed publications

GeneDx collaborates with top researchers, clinicians and institutions to advance the understanding of how genomics informs health. To-date, we’ve helped identify more than 500 new disease-gene relationships, developed novel tools for genomic data analysis, and more.

Newborn

2025

Nat Med

Nat Med

Feasibility and clinical utility of expanded genomic newborn screening in the Early Check program

Learn how rapid genomic sequencing is shaping clinical decision-making and improving outcomes in the NICU.

Exome

JAMA Neurology

Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria

Learn how rapid genomic sequencing is shaping clinical decision-making and improving outcomes in the NICU.

Neuromuscular

Annals of Neurology

Expert Panel Curation of 113 Primary Mitochondrial Disease Genes for the Leigh Syndrome Spectrum

Learn how rapid genomic sequencing is shaping clinical decision-making and improving outcomes in the NICU.

Developmental

Neurology

Nature Medicine

Multiomic analyses implicate a neurodevelopmental program in the pathogenesis of cerebral arachnoid cysts

Learn how rapid genomic sequencing is shaping clinical decision-making and improving outcomes in the NICU.

Variant

2023

Genome Biol

Genomic variant benchmark: if you cannot measure it, you cannot improve it

Learn how rapid genomic sequencing is shaping clinical decision-making and improving outcomes in the NICU.

Variant

2023

Genet Med

Recommendations for Risk Allele Evidence Curation, Classification, and Reporting from the ClinGen Low Penetrance/Risk Allele Working Group.

Learn how rapid genomic sequencing is shaping clinical decision-making and improving outcomes in the NICU.

Counseling

2023

Journal of Genetic Counseling

Shifts in the Genetic Counseling Workforce Highlight a Need for Standardized Laboratory Fieldwork Requirements

Learn how rapid genomic sequencing is shaping clinical decision-making and improving outcomes in the NICU.

Other

2023

Am J Med Genet A

The 8th International RASopathies Symposium: Expanding research and care practice through global collaboration and advocacy.

Learn how rapid genomic sequencing is shaping clinical decision-making and improving outcomes in the NICU.

Genome

2023

Nature Communications

Long-read whole genome analysis of human single cells

Learn how rapid genomic sequencing is shaping clinical decision-making and improving outcomes in the NICU.

Ready to bring genetic testing into your practice?

We’re here to support every step.