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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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Counseling
2023
J Genet Couns
Elective genomic testing: Practice resource of the National Society of Genetic Counselors
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Education
Genetics in Medicine
Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants
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Discovery
Human Mutation
Discovery of over 200 new and expanded genetic conditions using GeneMatcher
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Exome
JAMA
Molecular Diagnostic Yield of Exome Sequencing in Patients With Cerebral Palsy
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NICU
Exome
Genetics In Medicine
Uniparental disomy in a population of 32,067 clinical exome trios
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Discovery
Nature
Evidence for 28 genetic disorders discovered by combining healthcare and research data
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Exome
Genetics in Medicine
Clinical application of whole-exome sequencing across clinical indications
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Guidelines
2025
Am J Med Genet C Semin Med Genet
Spreading the Word: Communicating Evidence-Based Guidelines About Turner Syndrome to Patients, Parents, Providers, and Payors
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