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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.

Cancer
2026
Cancer Discovery
Cancer Discovery
A tumor-promoting inflammatory SPP1+ macrophage-IL-6-CRP axis drives immune dysfunction in bladder cancer
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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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Newborn
2024
Genet Med
A systematic framework for selecting gene-condition pairs for inclusion in newborn sequencing panels: Early Check implementation
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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
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