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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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Newborn
2024
Genet Med
A systematic framework for selecting gene-condition pairs for inclusion in newborn sequencing panels: Early Check implementation
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Neuromuscular
2024
Mol Psychiatry
Heparin treatment is associated with a delayed diagnosis of Alzheimer's dementia in electronic health records from two large United States health systems
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AI
2024
JMIR AI
Optimizing Clinical Trial Eligibility Design Using Natural Language Processing Models and Real-World Data: Algorithm Development and Validation
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Discovery
2024
Genetics in Medicine
A multi-center analysis of individuals with a 47,XXY/46,XX karyotype.
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Variant
2024
Am J Hum Genet
Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel
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AI
2024
Orphanet J Rare Dis
An algorithm to identify patients aged 0-3 with rare genetic disorders
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Variant
2024
Hum Genet
Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification
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Counseling
2024
J Genet Couns
Risk assessment and genetic counseling for hematologic malignancies-Practice resource of the National Society of Genetic Counselors
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