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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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Genome
2023
Nature
The complete sequence of a human Y chromosome.
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Cardiomyopathy
2023
Am J Hum Genet
The penetrance of rare variants in cardiomyopathy-associated genes: A cross-sectional approach to estimate penetrance for secondary findings.
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Prenatal
2023
GIM
Noninvasive prenatal screening (NIPS) for fetal chromosome abnormalities in a general-risk population: An evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG) (THIS IS AN ERRATUM)
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Genome
2023
Nat Methods
Multiscale analysis of pangenomes enables improved representation of genomic diversity for repetitive and clinically relevant genes
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Metabolic
2023
Mol Genet Metab
Evaluating the strength of evidence for genes implicated in peroxisomal disorders using the ClinGen clinical validity framework and providing updates to the peroxisomal disease nomenclature.
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Discovery
2023
Am J Hum Genet
De novo variants implicate chromatin modification, transcriptional regulation, and retinoic acid signaling in syndromic craniosynostosis.
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Guidelines
2023
Genet Med
Laboratory perspectives in the development of polygenic risk scores for disease: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG).
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Guidelines
2023
Genet Med
Points to consider in the practice of postmortem genetic testing: A statement of the American College of Medical Genetics and Genomics (ACMG)
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