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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.

Long-read Sequencing
May 2026
The American Journal of Human Genetics 2026
The American Journal of Human Genetics 2026
Sensitivity of HiFi long-read genome sequencing for difficult-to-detect pathogenic variants when applied to real-world clinical laboratory samples
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Neuromuscular
2025
Neurology
Pearls and Oy-sters: Chronic Progressive External Ophthalmoplegia With Electrical Myotonia and Negative Initial Genetic Testing
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Genome
2026
Am J Med Genet A
Implementation of First-Line Rapid Genome Sequencing for Children in Pediatric and Cardiac Intensive Care Units
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Genome
2025
HGG Adv
Expanding implementation of pediatric whole genome sequencing: insights from SeqFirst providers to inform equitable access to a precise genetic diagnosis
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Other
2025
Case Rep Genetics
Paternal UPD (15) With Disease-Causing Mutation and Small Supernumerary Ring Chromosome 15: A Case Report
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Other
2025
iScience
Epigenomic analysis identifies DTP subpopulation using HOPX to develop targeted therapy resistance in lung adenocarcinoma
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Neuromuscular
2025
Journal of Neuromuscular Diseases
Clinical validity of congenital myopathy genes determined by the ClinGen Congenital Myopathies Expert Panel
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AI
2025
JCO Clinical Cancer Informatics
Decoding Recurrence in Early-Stage and Locoregionally Advanced Non-Small Cell Lung Cancer: Insights From Electronic Health Records and Natural Language Processing
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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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