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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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Rare Disease Diagnostics
Genomics
2026
HGG Advances
Scaling Genomic Reanalysis to Unlock Diagnoses and Transform Rare Disease Care
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AI
2026
Human Genetics
Multiscore, a gene ranker powered by artificial intelligence and real-world clinical data, shows high sensitivity for the molecular diagnosis of Mendelian disorders in nearly 10,000 exomes and genomes
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Newborn
2025
Nature Medicine
Feasibility and clinical utility of expanded genomic newborn screening in the Early Check program
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Kidney Disease
Mitochondrial Disorders
2026
Kidney Medicine Journal
Mitochondrial DNA Analysis Should Be Considered in the Genetic Assessment of Focal Segmental Glomerulosclerosis or Unexplained Chronic Kidney Disease: A Case Report
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Metabolic
2026
Molecular Genetics and Metabolism
Navigating the complexity of managing coexisting inborn errors of metabolism and gender incongruence
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AI
2025
BMC Journals
DNA methylation and machine learning: challenges and perspective toward enhanced clinical diagnostics
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Other
2026
Journal of Medical Genetics
Clinical manifestations of chromosome 19p13.11 duplication
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Neuromuscular
2025
Neurology
Pearls and Oy-sters: Chronic Progressive External Ophthalmoplegia With Electrical Myotonia and Negative Initial Genetic Testing
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