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.

Other

2026

Cancer Discov

A tumor-promoting inflammatory SPP1+ macrophage-IL-6-CRP axis drives immune dysfunction in bladder cancer

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

Genome

2026

HGG Adv

Scaling Genomic Reanalysis to Unlock Diagnoses and Transform Rare Disease Care

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

AI

2026

Hum Genet

Multiscore, a gene ranker powered by artificial intelligence and real-world clinical data, shows high sensitivity for the molecular diagnosis of Mendelian disorders in nearly 10,000 exomes and genomes

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

Newborn

2025

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.

Other

2026

Kidney Med

Mitochondrial DNA Analysis Should Be Considered in the Genetic Assessment of Focal Segmental Glomerulosclerosis or Unexplained Chronic Kidney Disease: A Case Report

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

Metabolic

2026

Mol Genet Metab

Navigating the complexity of managing coexisting inborn errors of metabolism and gender incongruence

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

AI

2025

Clin Epigenetics

DNA methylation and machine learning: challenges and perspective toward enhanced clinical diagnostics

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

Other

2026

J Med Genet

Clinical manifestations of chromosome 19p13.11 duplication

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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