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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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Variant
Genetics in Medicine
The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change
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Exome
JAMA Neurology
Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria
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Neuromuscular
Annals of Neurology
Expert Panel Curation of 113 Primary Mitochondrial Disease Genes for the Leigh Syndrome Spectrum
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Developmental
Neurology
Nature Medicine
Multiomic analyses implicate a neurodevelopmental program in the pathogenesis of cerebral arachnoid cysts
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Variant
2023
Genome Biol
Genomic variant benchmark: if you cannot measure it, you cannot improve it
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Variant
2023
Genet Med
Recommendations for Risk Allele Evidence Curation, Classification, and Reporting from the ClinGen Low Penetrance/Risk Allele Working Group.
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Counseling
2023
Journal of Genetic Counseling
Shifts in the Genetic Counseling Workforce Highlight a Need for Standardized Laboratory Fieldwork Requirements
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Other
2023
Am J Med Genet A
The 8th International RASopathies Symposium: Expanding research and care practice through global collaboration and advocacy.
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