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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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Genome
2023
Nature Communications
Long-read whole genome analysis of human single cells
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Variant
2023
Genet Med
The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change.
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Genome
2023
Nature
The complete sequence of a human Y chromosome.
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Cardiomyopathy
2023
Am J Hum Genet
The penetrance of rare variants in cardiomyopathy-associated genes: A cross-sectional approach to estimate penetrance for secondary findings.
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Prenatal
2023
GIM
Noninvasive prenatal screening (NIPS) for fetal chromosome abnormalities in a general-risk population: An evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG) (THIS IS AN ERRATUM)
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Genome
2023
Nat Methods
Multiscale analysis of pangenomes enables improved representation of genomic diversity for repetitive and clinically relevant genes
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Metabolic
2023
Mol Genet Metab
Evaluating the strength of evidence for genes implicated in peroxisomal disorders using the ClinGen clinical validity framework and providing updates to the peroxisomal disease nomenclature.
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Discovery
2023
Am J Hum Genet
De novo variants implicate chromatin modification, transcriptional regulation, and retinoic acid signaling in syndromic craniosynostosis.
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