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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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Exome
Genetics in Medicine
Clinical application of whole-exome sequencing across clinical indications
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Guidelines
2025
Am J Med Genet C Semin Med Genet
Spreading the Word: Communicating Evidence-Based Guidelines About Turner Syndrome to Patients, Parents, Providers, and Payors
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Prenatal
2023
Genet Med
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)
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Guidelines
2022
Genet Med
The designated record set for clinical genetic and genomic testing: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)
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Discovery
2022
Cell
A cross-disorder dosage sensitivity map of the human genome
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Genome
2021
PLoS Genet
Deciphering the genetic architecture and ethnographic distribution of IRD in three ethnic populations by whole genome sequence analysis
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Variant
2021
Hum Mutat
Recommendations by the ClinGen Rett/Angelman-like Expert Panel for Gene-specific Variant Interpretation Methods
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Variant
2022
Genome Med
ClinGen Variant Curation Interface: a variant classification platform for the application of evidence criteria from ACMG/AMP guidelines
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