Skip to the content
Provider Portal
Test catalog
Icon for Contact
  • Providers
    Back
    Icon for Exome Sequencing
    Exome Sequencing
    Icon for Genome Sequencing
    Genome Sequencing
    Icon for Educational resource hub
    Educational resource hub
    Icon for Targeted Variant Testing
    Targeted Variant Testing
  • Patients
    Back
    Icon for What's an exome or genome?
    What's an exome or genome?
    Icon for How does it work?
    How does it work?
    Icon for What are my billing options?
    What are my billing options?
    Icon for How has testing helped others?
    How has testing helped others?
    Icon for Can you help me access testing?
    Can you help me access testing?
    Icon for Where do I pay my bill?
    Where do I pay my bill?
    Icon for What if I still have questions?
    What if I still have questions?
    Icon for How do I get support?
    How do I get support?
  • How to order
    Back
    Icon for Test catalog
    Test catalog
    Icon for Forms
    Forms
    Icon for Billing
    Billing
    Icon for Specimen requirements
    Specimen requirements
    Icon for Ordering
    Ordering
    Icon for Results
    Results
    Icon for Genetic counseling services
    Genetic counseling services
    Icon for Request supplies
    Request supplies
    Icon for Provider FAQs
    Provider FAQs
  • Partnerships
    Back
    Icon for Biopharma
    Biopharma
    Icon for Epic Aura
    Epic Aura
    Icon for Newborn screening
    Newborn screening
    Icon for Patient advocacy organizations
    Patient advocacy organizations
  • About us
    Back
    Icon for Our story
    Our story
    Icon for Our research
    Our research
    Icon for Blog
    Blog
    Icon for Leadership
    Leadership
    Icon for GeneDx careers
    GeneDx careers
    Icon for Contact
    Contact
  • Rare. Yet Everywhere.
Provider Portal
Contact
  • Providers
    Back
    Icon for Exome Sequencing
    Exome Sequencing
    Icon for Genome Sequencing
    Genome Sequencing
    Icon for Educational resource hub
    Educational resource hub
    Icon for Targeted Variant Testing
    Targeted Variant Testing
  • Patients
    Back
    Icon for What's an exome or genome?
    What's an exome or genome?
    Icon for How does it work?
    How does it work?
    Icon for What are my billing options?
    What are my billing options?
    Icon for How has testing helped others?
    How has testing helped others?
    Icon for Can you help me access testing?
    Can you help me access testing?
    Icon for Where do I pay my bill?
    Where do I pay my bill?
    Icon for What if I still have questions?
    What if I still have questions?
    Icon for How do I get support?
    How do I get support?
  • How to order
    Back
    Icon for Test catalog
    Test catalog
    Icon for Forms
    Forms
    Icon for Billing
    Billing
    Icon for Specimen requirements
    Specimen requirements
    Icon for Ordering
    Ordering
    Icon for Results
    Results
    Icon for Genetic counseling services
    Genetic counseling services
    Icon for Request supplies
    Request supplies
    Icon for Provider FAQs
    Provider FAQs
  • Partnerships
    Back
    Icon for Biopharma
    Biopharma
    Icon for Epic Aura
    Epic Aura
    Icon for Newborn screening
    Newborn screening
    Icon for Patient advocacy organizations
    Patient advocacy organizations
  • About us
    Back
    Icon for Our story
    Our story
    Icon for Our research
    Our research
    Icon for Blog
    Blog
    Icon for Leadership
    Leadership
    Icon for GeneDx careers
    GeneDx careers
    Icon for Contact
    Contact
  • Rare. Yet Everywhere.

Systematic analysis of variants escaping nonsense-mediated decay uncovers candidate Mendelian diseases

Ray Jubela | January 4, 2024

Analysis of over 29,000 neurodevelopmental disorder parent-offspring trios for de novo protein-truncating variants in the nonsense mediated decay escape regions (PTVesc), resulting in identification of 22 candidate Mendelian genes and 22 known Mendelian genes that were not previously known to have PTVesc-associated disease.

Categories:

Post navigation

← Shifts in the genetic counseling workforce highlight a need for laboratory fieldwork experience for genetic counseling trainees
Federated analysis of autosomal recessive coding variants in 29,745 developmental disorder patients from diverse populations →
Company
  • About us
  • Leadership team
  • IR/Media
  • Blog
  • Contact us
  • GeneDx careers
  • Licenses & certifications
Privacy
  • Privacy policy
  • Notice of privacy practices
  • Terms of service
  • Compliance
  • Social media guidelines
  • No surprise billing disclosure
  • Annual physician notice
Follow
  • LinkedIn
  • IG
  • FB
  • Twitter
  • YouTube
Fast Company Innovation Award

© 2025 GeneDx® , LLC