For Providers
For Families
Provider sign in
Webinars
Publications
Case Studies
Clinical Practice Guidelines
Conferences & Events
Thank you! Your submission has been received!
Oops! Something went wrong while submitting the form.
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
Read more
Other
2024
Cell Rep Med
Immunomodulatory effects and improved outcomes with cisplatin- versus carboplatin-based chemotherapy plus atezolizumab in urothelial cancer.
Read more
Variant
2024
Hum Mol Genet
Challenges and approaches to calibrating patient phenotype as evidence for cancer gene variant classification under ACMG/AMP guidelines.
Read more
Other
2024
Cancer Res
ASCL1 Drives Tolerance to Osimertinib in EGFR Mutant Lung Cancer in Permissive Cellular Contexts
Read more
Neuromuscular
2024
Sci Adv
Molecular profiling of human substantia nigra identifies diverse neuron types associated with vulnerability in Parkinson's disease.
Read more
Counseling
Journal of Genetic Counseling
Shifts in the genetic counseling workforce highlight a need for laboratory fieldwork experience for genetic counseling trainees
Read more
Other
American Journal of Medical Genetics A
The 8th International RASopathies Symposium: Expanding research and care practice through global collaboration and advocacy
Read more
Variant
Genetics in Medicine
The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change
Read more
Exome
JAMA Neurology
Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria
Read more

Ready to bring genetic testing into your practice?

We’re here to support every step.

View tests
Contact a rep