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

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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.

Guidelines

2023

Genet Med

Points to consider in the practice of postmortem genetic testing: A statement of the American College of Medical Genetics and Genomics (ACMG)

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

Counseling

2023

J Genet Couns

Elective genomic testing: Practice resource of the National Society of Genetic Counselors

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

Education

Genetics in Medicine

Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants

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

Discovery

Human Mutation

Discovery of over 200 new and expanded genetic conditions using GeneMatcher

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

Exome

JAMA

Molecular Diagnostic Yield of Exome Sequencing in Patients With Cerebral Palsy

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

NICU

Exome

Genetics In Medicine

Uniparental disomy in a population of 32,067 clinical exome trios

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

Discovery

Nature

Evidence for 28 genetic disorders discovered by combining healthcare and research data

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

Exome

Genetics in Medicine

Clinical application of whole-exome sequencing across clinical indications

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.