Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

ClinGen's RASopathy Expert Panel consensus methods for variant interpretation.

Bruce D Gelb1, Hélène Cavé2, Mitchell W Dillon3

  • 1Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, New York, USA.

Genetics in Medicine : Official Journal of the American College of Medical Genetics
|March 2, 2018
PubMed
Summary

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Identifying Genes Associated with Obstructive Congenital Heart Defects Using a Family-Based Genetic Random Field Method: Results from the National Birth Defects Prevention Study.

HGG advances·2026
Same author

Pediatric Genomic Medicine-rapid progress, but not too fast: American Pediatric Society's 2026 John Howland Award Lecture.

Pediatric research·2026
Same author

Sociodemographic Variability in Pediatric Emergency Decisions by AI.

Pediatrics·2026
Same author

Rare <i>KDR</i> Variants Define a Distinct Genetic Contribution to Congenital Heart Disease.

Circulation. Genomic and precision medicine·2026
Same author

Operationalising readiness for practice in final OSCEs: insights from a mixed-methods study across five Australian medical schools.

BMC medical education·2026
Same author

Whose Role Is It, Anyway? Ensuring Correct Genomic Variant Nomenclature in Published Literature.

Clinical chemistry·2026
This summary is machine-generated.

Standardized variant classification for RASopathies improves accuracy. Gene-specific guidelines for the American College of Medical Genetics and Genomics-Association for Molecular Pathology (ACMG-AMP) framework enhance variant assessment, aiding medical care.

Area of Science:

  • Genetics
  • Molecular Biology
  • Medical Diagnostics

Background:

  • Accurate variant classification is crucial for patient care.
  • Clinical Genome Resource (ClinGen) working groups develop gene-specific guidelines.
  • Standardizing variant assessment ensures reliable genetic diagnoses.
Keywords:
ClinGenNoonanRASopathyRas/MAPKvariant interpretation

Related Experiment Videos