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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
2025
Genetics in Medicine Open
Updated ACMG/AMP specifications for variant interpretation and gene curations from the ClinGen RASopathy expert panels
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Genome
2025
The Journal of Pediatrics
Implementation of First-Tier Rapid Genome Sequencing in Non-Critical Care Pediatric Wards
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AI
2025
American Journal of Medical Genetics
Perspectives on the Current and Future State of Artificial Intelligence in Medical Genetics
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Newborn
2025
The American Journal Human Genetics
SeqFirst: Building equity access to a precise genetic diagnosis in critically ill newborns
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Developmental
2025
Journal of Medical Genetics
Neurodevelopmental delay, musculoskeletal disorders and dysmorphia associated with a novel pathogenic interstitial deletion of chromosome 10q21.1q21.3
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Genome
2025
Nature Communications
Genome-wide profiling of highly similar paralogous genes using HiFi sequencing
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AI
2025
Springer Nature
Harnessing genotype and phenotype data for population-scale variant classification using large language models and bayesian inference
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Exome
2025
Genetics in Medicine
Monogenic disorders associated with motor speech phenotypes in children and adolescents undergoing clinical exome sequencing
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