Educational Resource Hub

GeneDx offers more than a test. We’re dedicated to advancing the field of genomics—so more patients get answers.

Clinical Practice Guidelines

Conferences & Events

Thank you! Your submission has been received!

Oops! Something went wrong while submitting the form.

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.

Newborn

2025

Nat Med

Nat Med

Feasibility and clinical utility of expanded genomic newborn screening in the Early Check program

Learn how rapid genomic sequencing is shaping clinical decision-making and improving outcomes in the NICU.

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

Learn how rapid genomic sequencing is shaping clinical decision-making and improving outcomes in the NICU.

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)

Learn how rapid genomic sequencing is shaping clinical decision-making and improving outcomes in the NICU.

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)

Learn how rapid genomic sequencing is shaping clinical decision-making and improving outcomes in the NICU.

Discovery

2022

Cell

A cross-disorder dosage sensitivity map of the human genome

Learn how rapid genomic sequencing is shaping clinical decision-making and improving outcomes in the NICU.

Genome

2021

PLoS Genet

Deciphering the genetic architecture and ethnographic distribution of IRD in three ethnic populations by whole genome sequence analysis

Learn how rapid genomic sequencing is shaping clinical decision-making and improving outcomes in the NICU.

Variant

2021

Hum Mutat

Recommendations by the ClinGen Rett/Angelman-like Expert Panel for Gene-specific Variant Interpretation Methods

Learn how rapid genomic sequencing is shaping clinical decision-making and improving outcomes in the NICU.

Variant

2022

Genome Med

ClinGen Variant Curation Interface: a variant classification platform for the application of evidence criteria from ACMG/AMP guidelines

Learn how rapid genomic sequencing is shaping clinical decision-making and improving outcomes in the NICU.

Cardiomyopathy

2021

J Mol Diagn.

Harmonizing the Collection of Clinical Data on Genetic Testing Requisition Forms to Enhance Variant Interpretation in Hypertrophic Cardiomyopathy (HCM): A Study from the ClinGen Cardiomyopathy Variant Curation Expert Panel

Learn how rapid genomic sequencing is shaping clinical decision-making and improving outcomes in the NICU.

Ready to bring genetic testing into your practice?

We’re here to support every step.