Venue
American College of Medical Genetics and Genomics 2025
Los Angeles Convention Center
1201 S Figueroa St.
Los Angeles, CA 90015
Dates
Mar. 18 – Mar. 22
Booth
217
| Title | Primary Author | Type | Date / Time / Location |
| Detecting Mitochondrial Electron Transport Chain Enzyme Defects in Low-Heteroplasmy Single Large-Scale mtDNA Deletion Syndromes (SLSMDs) | Xueyang Pan, PhD | Platform Session 5 / Neurodevelopmental & Biochemical Genes | March 21 / 1:30 pm – 3:30 pm (PT) / Petree Hall C |
| 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 / P645 | Exhibit Hall |
| Clinical Significance of mRNA Nonstop Decay in Rare Disease Diagnosis | Yue Zhou, PhD | Poster Presentations / P731 | Exhibit Hall |
| Identification of a Novel Variant in the MAD1L1 Gene in an Individual with Mosaic Variegated Aneuploidy Syndrome | Veronica Ortiz, PhD | Poster Presentations / P783 | Exhibit Hall |