SUNY Upstate Medical University at ASHG 2026
Oct 20–24, 2026 Montréal, Canada ~7.5k attendees Website
SUNY Upstate Medical University brings 6 presentations to ASHG 2026 in Montréal. Its program at this meeting centres on rare disease diagnosis and clinical genetics. Its presentations examine an FBXW11-related syndrome, whole-exome sequencing for SEMD-IT, and a rare supernumerary ring X chromosome.
| Organization | ASHG 2026 Attendance |
|---|---|
SUNY Upstate Medical University Syracuse, New York | 6 presenters |
Poster Wed Oct 21 2:30 pm Inherited FBXW11-related neurodevelopmental, jaw, eye, and digital syndrome with axial skeletal involvement: A case report Characterization of disordersInheritance patternsMendelian disorderNeurodevelopmental Poster Thu Oct 22 4:15 pm Phenotypic report of rare copy number variant: 3.4Mb deletion of 5q33.1q33.2 including GRIA1 gene. BehaviorChromosomal deletionsClinical geneticsGenetic testing Poster Thu Oct 22 4:15 pm Intermediate Phenotype in DNM2-Related Autosomal Dominant Centronuclear Myopathy Clinical geneticsGenotype-phenotype correlationsMuscular abnormalitiesPhenotype Poster Thu Oct 22 4:15 pm A de novo NFATC4 variant links calcium-dependent transcription to autism regression and skeletal dysmorphology AutismBone/joint abnormalitiesClinical geneticsDevelopment Poster Thu Oct 22 4:15 pm Whole exome sequencing (WES) as opposed to targeted panel testing in Spondyloepimetaphyseal Dysplasia, Isidor-Toutain type (SEMD-IT): a case report Clinical geneticsExome/genome sequencingTargeted sequencingRare variants Poster Fri Oct 23 2:30 pm Rare supernumerary ring X chromosome: a case report AneuploidyChromosomal abnormalitiesGenotype-phenotype correlationsNeurodevelopmental |
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