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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.

Pediatric Neurology
June 2026
Pediatric Neurology
Pediatric Neurology
Feasibility pilot to expand exome sequencing access for children with non-syndromic neurodevelopmental disorders
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Variant
2025
PLoS Genet
Leveraging cancer mutation data to inform the pathogenicity classification of germline missense variants
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Other
2025
Journal of Interferon & Cytokine Research
Suppression of miR-155 Attenuates Lung Cytokine Storm Induced by SARS-CoV-2 Infection
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Developmental
Nature Genetics
Federated analysis of autosomal recessive coding variants in 29,745 developmental disorder patients from diverse populations
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Discovery
American Journal of Human Genetics
Systematic analysis of variants escaping nonsense-mediated decay uncovers candidate Mendelian diseases
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Variant
2024
Blood Cancer Discov
Multiple Myeloma Risk and Outcomes Are Associated with Pathogenic Germline Variants in DNA Repair Genes
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Developmental
2024
Nat Genet
Federated analysis of autosomal recessive coding variants in 29,745 developmental disorder patients from diverse populations.
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AI
2024
Sci Rep
CriteriaMapper: establishing the automatic identification of clinical trial cohorts from electronic health records by matching normalized eligibility criteria and patient clinical characteristics
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Variant
2024
JAMA Netw Open
Clinical Variant Reclassification in Hereditary Disease Genetic Testing.
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