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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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Guidelines
2023
Genet Med
Laboratory perspectives in the development of polygenic risk scores for disease: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG).
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Guidelines
2023
Genet Med
Points to consider in the practice of postmortem genetic testing: A statement of the American College of Medical Genetics and Genomics (ACMG)
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Counseling
2023
J Genet Couns
Elective genomic testing: Practice resource of the National Society of Genetic Counselors
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Education
Genetics in Medicine
Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants
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Discovery
Human Mutation
Discovery of over 200 new and expanded genetic conditions using GeneMatcher
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Exome
JAMA
Molecular Diagnostic Yield of Exome Sequencing in Patients With Cerebral Palsy
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NICU
Exome
Genetics In Medicine
Uniparental disomy in a population of 32,067 clinical exome trios
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Discovery
Nature
Evidence for 28 genetic disorders discovered by combining healthcare and research data
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