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

2024

Mol Psychiatry

Heparin treatment is associated with a delayed diagnosis of Alzheimer's dementia in electronic health records from two large United States health systems

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

AI

2024

JMIR AI

Optimizing Clinical Trial Eligibility Design Using Natural Language Processing Models and Real-World Data: Algorithm Development and Validation

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

Discovery

2024

Genetics in Medicine

A multi-center analysis of individuals with a 47,XXY/46,XX karyotype.

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

Variant

2024

Am J Hum Genet

Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel

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

AI

2024

Orphanet J Rare Dis

An algorithm to identify patients aged 0-3 with rare genetic disorders

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

Variant

2024

Hum Genet

Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification

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

Counseling

2024

J Genet Couns

Risk assessment and genetic counseling for hematologic malignancies-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.

Prenatal

2024

Genet Med

Laboratory testing for preconception/prenatal carrier screening: A technical standard 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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