ASHG 2026 · Tier 2–3 Academic

SUNY Upstate Medical University at ASHG 2026

Syracuse, New York

SUNY Upstate Medical University at ASHG 2026 in Montréal: 6 presentations (6 posters).

6
presentations on the program

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OrganizationASHG 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
Mendelian Phenotypes
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.
Mendelian Phenotypes
BehaviorChromosomal deletionsClinical geneticsGenetic testing
Poster
Thu Oct 22
4:15 pm
Intermediate Phenotype in DNM2-Related Autosomal Dominant Centronuclear Myopathy
Complex Traits and Polygenic Disorders
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
Mendelian Phenotypes
Collaborators: University of California, San Francisco
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
Laboratory Genetics and Genomics
Clinical geneticsExome/genome sequencingTargeted sequencingRare variants
Poster
Fri Oct 23
2:30 pm
Rare supernumerary ring X chromosome: a case report
Mendelian Phenotypes
AneuploidyChromosomal abnormalitiesGenotype-phenotype correlationsNeurodevelopmental

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