Venue
American Society of Human Genetics Annual Meeting 2025
Thomas M. Menino Convention & Exhibition Center
415 Summer St.
Boston, MA
Dates
Oct. 14 – 18
Booth
556
| Title | Presenting Author | Category | Date / Time / Location |
| SNP Array and Genome Sequencing Demonstrated Revertant Mosaicism via Postzygotic Rescue as the Main Mechanism of Mosaic Chromosomal Terminal Duplications | Weimin Bi, PhD | Molecular and Cytogenetic Diagnostics | October 15 // 2:30 pm – 4:30 pm // Halls A & B |
| Damaging Variants in HNRNPUL2 Result in a Novel HNRNP-Related Neurodevelopmental Disorder | Maddie Gillentine, PhD | Mendelian Phenotypes | October 15 // 2:30 pm – 4:30 pm // Halls A & B |
| Autosomal Dominant FAR1-Related Disorder Phenotypic Expansion | Darwin Argueta, MS, CGC | Mendelian Phenotypes | October 16 // 2:30 pm – 4:30 pm // Halls A & B |
| Clinical Utility of Transcriptome RNA-Sequencing in Diagnosing Rare Genetic Disorders: Initial Experiences | Mei Ling Chong, PhD | Omics Technologies | October 16 // 2:30 pm – 4:30 pm // Halls A & B |
| Multi-omics Framework for Diagnosing NAXE Deficiency | Nikhita Gogate, MS | Omics Technologies | October 16 // 2:30 pm – 4:30 pm // Halls A & B |
| Reassessment of Rare TUBA4A Variants in Patients with Myopathy and Neurodevelopmental Features | Keri Callegari, PhD | Mendelian Phenotypes | October 17 // 2:30 pm – 4:30 pm // Halls A & B |
| Elucidating the Diagnostic Yield and Allelic Characteristics of FGF14 Repeat Expansion for Adult Ataxia Through Whole Genome Sequencing | Haowei Du, MSc, PhD | Molecular Effects of Genetic Variation | October 17 // 2:30 pm – 4:30 pm // Halls A & B |
| Diagnostic Utility of RNA Sequencing for Reclassification of Rare Disease Variants by Exome and Genome Sequencing | Robert Rigobello, MS, CGC | Omics Technologies | October 17 // 2:30 pm – 4:30 pm // Halls A & B |