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.

Neuromuscular

2025

Neurology

Pearls and Oy-sters: Chronic Progressive External Ophthalmoplegia With Electrical Myotonia and Negative Initial Genetic Testing

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

Genome

2026

Am J Med Genet A

Implementation of First-Line Rapid Genome Sequencing for Children in Pediatric and Cardiac Intensive Care Units

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

Genome

2025

HGG Adv

Expanding implementation of pediatric whole genome sequencing: insights from SeqFirst providers to inform equitable access to a precise genetic diagnosis

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

Other

2025

Case Rep Genetics

Paternal UPD (15) With Disease-Causing Mutation and Small Supernumerary Ring Chromosome 15: A Case Report

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

Other

2025

iScience

Epigenomic analysis identifies DTP subpopulation using HOPX to develop targeted therapy resistance in lung adenocarcinoma

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

Neuromuscular

2025

J Neuromuscul Dis

Clinical validity of congenital myopathy genes determined by the ClinGen Congenital Myopathies Expert Panel

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

AI

2025

JCO Clin Cancer Inform

Decoding Recurrence in Early-Stage and Locoregionally Advanced Non-Small Cell Lung Cancer: Insights From Electronic Health Records and Natural Language Processing

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

Variant

2025

Genet Med Open

Updated ACMG/AMP specifications for variant interpretation and gene curations from the ClinGen RASopathy expert panels

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

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