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.

Variant

2023

Genet Med

The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change.

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

Genome

2023

Nature

The complete sequence of a human Y chromosome.

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

Cardiomyopathy

2023

Am J Hum Genet

The penetrance of rare variants in cardiomyopathy-associated genes: A cross-sectional approach to estimate penetrance for secondary findings.

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

Prenatal

2023

GIM

Noninvasive prenatal screening (NIPS) for fetal chromosome abnormalities in a general-risk population: An evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG) (THIS IS AN ERRATUM)

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

Genome

2023

Nat Methods

Multiscale analysis of pangenomes enables improved representation of genomic diversity for repetitive and clinically relevant genes

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

Metabolic

2023

Mol Genet Metab

Evaluating the strength of evidence for genes implicated in peroxisomal disorders using the ClinGen clinical validity framework and providing updates to the peroxisomal disease nomenclature.

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

Discovery

2023

Am J Hum Genet

De novo variants implicate chromatin modification, transcriptional regulation, and retinoic acid signaling in syndromic craniosynostosis.

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

Guidelines

2023

Genet Med

Laboratory perspectives in the development of polygenic risk scores for disease: A points to consider 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.

Ready to bring genetic testing into your practice?

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