Edgar A Rivera-Muñoz
4PUBLICATIONS
21CO-AUTHORS
Get your video featured.
Publish with JoVEGet your video featured.
Publish with JoVE
Publications (4)
Sort by Publication Date:
|Sep 05, 2025
Clinical exome sequencing efficacy and phenotypic expansions involving non-isolated congenital anomalies of kidney and urinary tract (CAKUT+).E Andres Rivera-Munoz, Xiaonan E Zhao, Jill A Rosenfeld
|Feb 19, 2024
Considerations for reporting variants in novel candidate genes identified during clinical genomic testing.Jessica X Chong, Seth I Berger, Samantha Baxter
|Oct 13, 2018
ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene-level specification of the ACMG/AMP guidelines for sequence variant interpretation.Edgar A Rivera-Muñoz, Laura V Milko, Steven M Harrison
|Aug 11, 2018
Quantifying the potential of functional evidence to reclassify variants of uncertain significance in the categorical and Bayesian interpretation frameworks.Sarah E Brnich, Edgar A Rivera-Muñoz, Jonathan S Berg
Pageof 1
Frequent Collaborators
2 joint publications
Heidi L Rehm
2 joint publications
Jonathan S Berg
1 joint publications
Jessica X Chong
1 joint publications
Seth I Berger
1 joint publications
Samantha Baxter
1 joint publications
Erica Smith
1 joint publications
Changrui Xiao
1 joint publications
Daniel G Calame
1 joint publications
Megan H Hawley
1 joint publications
Stephanie DiTroia
