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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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AI
2025
Am J Med Genet A
Perspectives on the Current and Future State of Artificial Intelligence in Medical Genetics
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Newborn
2025
Am J Hum Genet
SeqFirst: Building equity access to a precise genetic diagnosis in critically ill newborns
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Developmental
2025
Med Genet
Neurodevelopmental delay, musculoskeletal disorders and dysmorphia associated with a novel pathogenic interstitial deletion of chromosome 10q21.1q21.3
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Genome
2025
Nat Commun
Genome-wide profiling of highly similar paralogous genes using HiFi sequencing
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AI
2025
Springer Nature
Harnessing genotype and phenotype data for population-scale variant classification using large language models and bayesian inference
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Exome
2025
Genet Med
Monogenic disorders associated with motor speech phenotypes in children and adolescents undergoing clinical exome sequencing
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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
J Interferon Cytokine Res
Suppression of miR-155 Attenuates Lung Cytokine Storm Induced by SARS-CoV-2 Infection
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