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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.

Pediatric Neurology
June 2026
Pediatric Neurology
Pediatric Neurology
Feasibility pilot to expand exome sequencing access for children with non-syndromic neurodevelopmental disorders
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Prenatal
2024
Genet Med
Laboratory testing for preconception/prenatal carrier screening: A technical standard of the American College of Medical Genetics and Genomics (ACMG)
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Discovery
2024
J Med Genet
A comparative medical genomics approach may facilitate the interpretation of rare missense variation.
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Other
2024
Cell Rep Med
Immunomodulatory effects and improved outcomes with cisplatin- versus carboplatin-based chemotherapy plus atezolizumab in urothelial cancer.
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Variant
2024
Hum Mol Genet
Challenges and approaches to calibrating patient phenotype as evidence for cancer gene variant classification under ACMG/AMP guidelines.
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Other
2024
Cancer Res
ASCL1 Drives Tolerance to Osimertinib in EGFR Mutant Lung Cancer in Permissive Cellular Contexts
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Neuromuscular
2024
Sci Adv
Molecular profiling of human substantia nigra identifies diverse neuron types associated with vulnerability in Parkinson's disease.
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Counseling
Journal of Genetic Counseling
Shifts in the genetic counseling workforce highlight a need for laboratory fieldwork experience for genetic counseling trainees
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Other
American Journal of Medical Genetics A
The 8th International RASopathies Symposium: Expanding research and care practice through global collaboration and advocacy
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