Title |
Primary Author |
Type |
Date / Time / Location |
Detecting Mitochondrial Electron Transport Chain Enzyme Defects in Low-Heteroplasmy Single Large-Scale mtDNA Deletion Syndromes (SLSMDs) |
Platform Session 5 // |
March 21 // 1:30 pm – 3:30 pm (PT) // Petree Hall C |
ACMG 2025
ACMG 2025
Conference Location
Los Angeles Convention Center
1201 S Figueroa St.
Los Angeles, CA 90015
Conference Dates
Mar. 18 – Mar. 22
Booth Number
217
Conference WebsiteACMG 2025
Title |
Primary Author |
Type |
Date / Time / Location |
Reflex RNA Sequencing for Enhanced Variant Classification on ES/GS Improves Patient Outcomes |
Mei Ling Chong, PhD |
Poster Presentations // |
Exhibit Hall |
Clinical Significance of mRNA Nonstop Decay in Rare Disease Diagnosis |
Yue Zhou, PhD |
Poster Presentations // |
Exhibit Hall |
Identification of a Novel Variant in the MAD1L1 Gene in an Individual with Mosaic Variegated Aneuploidy Syndrome |
Veronica Ortiz, PhD |
Poster Presentations // |
Exhibit Hall |