Educational Resource Hub

GeneDx offers more than a test. We’re dedicated to advancing the field of genomics—so more patients get answers.

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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.

J Interferon Cytokine Res
Suppression of miR-155 Attenuates Lung Cytokine Storm Induced by SARS-CoV-2 Infection

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

Nature Genetics
Federated analysis of autosomal recessive coding variants in 29,745 developmental disorder patients from diverse populations

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

American Journal of Human Genetics
Systematic analysis of variants escaping nonsense-mediated decay uncovers candidate Mendelian diseases

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

Blood Cancer Discov
Multiple Myeloma Risk and Outcomes Are Associated with Pathogenic Germline Variants in DNA Repair Genes

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

Nat Genet
Federated analysis of autosomal recessive coding variants in 29,745 developmental disorder patients from diverse populations.

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

Sci Rep
CriteriaMapper: establishing the automatic identification of clinical trial cohorts from electronic health records by matching normalized eligibility criteria and patient clinical characteristics

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

JAMA Netw Open
Clinical Variant Reclassification in Hereditary Disease Genetic Testing.

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

Genet Med
A systematic framework for selecting gene-condition pairs for inclusion in newborn sequencing panels: Early Check implementation

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

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