ASHG 2026 · Hospital & health system

Cincinnati Children's Hospital Medical Center at ASHG 2026

Name: ASHG 2026 Annual Meeting
Start: 2026-10-20
End: 2026-10-24
Location: Montréal

Cincinnati, Ohio

Cincinnati Children's Hospital Medical Center at ASHG 2026 in Montréal: 11 presentations (11 posters); 6 research groups.

presentations on the program

research groups identified

sessions invited to or moderated

Reviewers’ Choice abstracts

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Organization	ASHG 2026 Attendance
Cincinnati Children's Hospital Medical Center Cincinnati, Ohio	3 PIs · 2 Staff Scientists · 2 Clinicians
Slavotinek Labcincinnatichildrens.org/research/divisions/h/genetics/labs/slavotinek Wet lab~2 people Uses whole-genome, exome, bulk RNA-Seq, single-cell RNA-Seq and CRISPR/Cas9 zebrafish. Focuses on developmental eye and birth defects. 40 papers since 2024 › Guidance on Use of Race, Ethnicity, and Geographic Origin as Proxies for Genetic Ancestry Groups in Biomedical Publications JAMA, 2024 Genetic ancestry and diagnostic yield of exome sequencing in a diverse population npj Genomic Medicine, 2024 BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations European Journal of Human Genetics, 2024 Source: OpenAlex author A5021830355 Funded by National Eye Institute, National Institutes of Health, National Human Genome Research Institute, National Institutes of Health › National Eye Institute, National Institutes of Health · active “This work is funded by the National Eye Institute, National Institutes of Health.” National Human Genome Research Institute, National Institutes of Health “This work was funded by the National Human Genome Research Institute and National Institutes of Health.” Source: lab pages 9 platforms and techniques › Analyzes Whole-genome sequencing (WGS), Exome sequencing (ES), Bulk RNA-Seq, Single-cell RNA-Seq Techniques CRISPR/Cas9 gene editing, Zebrafish models, In vitro functional studies, In vivo functional studies, Phenotyping generated fish Source: lab pages No openings posted	Poster Thu Oct 22 4:15 pm Eight new patients with DIP2C variants and characterization of a zebrafish dip2ca-/-/dip2cb-/- loss-of-function model Molecular Effects of Genetic Variation Collaborators: University of California, San Francisco, University of Bonn +9 more NeurodevelopmentalBehaviorModel organismsGenome editing/CRISPR Poster Thu Oct 22 4:15 pm ★ Reviewers’ Choice Redefining Access and Interpretation in Genomic Medicine with a Focus on Variant Resolution Mendelian Phenotypes Collaborators: University of Cincinnati Exome/genome sequencing Poster Fri Oct 23 2:30 pm Two case reports of NUBPL-related mitochondrial disease, one with a dual diagnosis due to maternal uniparental disomy of chromosome 14 Mendelian Phenotypes Collaborators: University of California, Irvine, University of Cincinnati Mendelian disorderMitochondriaInheritance patternsNeurodevelopmental Moderator Sat Oct 24 9:45 am Decoding Sensory Diseases: Germline, Somatic, and Regulatory Mechanisms
Division of Human Geneticscincinnatichildrens.org/service/h/human-genetics/team Wet + dry lab~80 people Uses targeted panels, exome and genome testing, gene sequencing, cell and animal models. Supports rare-disease diagnosis, gene therapies and pediatric genomic research. Funded by National Institutes of Health, U.S. Air Force +2 more › National Institutes of Health · active “With funding from the National Institutes of Health, the U.S. Air Force, the Bill & Melinda Gates Foundation, and more” U.S. Air Force · active “With funding from the National Institutes of Health, the U.S. Air Force, the Bill & Melinda Gates Foundation, and more” Bill & Melinda Gates Foundation · active “With funding from the National Institutes of Health, the U.S. Air Force, the Bill & Melinda Gates Foundation, and more” +1 more on the lab page Source: lab pages 8 platforms and techniques › Runs targeted panels, exome testing, genome testing, gene sequencing Techniques data analysis, cell models, animal models, gene therapy Source: lab pages Currently hiring › “ACTIVELY RECRUITING Barske Lab” Source: lab positions page	Poster Thu Oct 22 4:15 pm Case Report: Extremely early onset Juvenile Huntington Disease with CAG repeat expansion >700 Mendelian Phenotypes Brain/nervous systemClinical geneticsGenotype-phenotype correlationsNeurodegeneration Poster Fri Oct 23 2:30 pm Molecular characterization of inherited bone marrow failure syndromes using targeted next-generation sequencing in 966 patients Laboratory Genetics and Genomics Collaborators: University of Cincinnati Genetic testingHematopoietic systemSomatic variantsTargeted sequencing
Genetic and Genomic Diagnostic Labcincinnatichildrens.org/clinical-labs/our-labs/genetic-genomic-diagnostic/team Wet lab~36 people Provides cytogenetic and genetic testing using exome sequencing, gene panels, Optical Genome Mapping and methylation analysis. Supports diagnosis, prognosis and treatment planning for healthcare providers. 3 papers since 2024 › P793: Segregation of a nonsense variant in TP63 in a five-generation family with non-syndromic cleft lip and palate Genetics in Medicine Open, 2025 Genetic Testing in Patients with Autoimmune Lymphoproliferative Syndrome: Experience of 802 Patients at Cincinnati Children’s Hospital Medical Center Journal of Clinical Immunology, 2024 P764: RNA sequencing improves assessment of variants of uncertain significance from fetal genome and exome sequencing* Genetics in Medicine Open, 2024 Source: OpenAlex author A5039036717 14 platforms and techniques › Runs Optical Genome Mapping (OGM), Exome sequencing, Gene sequencing panels, MLPA, aCGH, FISH, Methylation array, Microarray analysis Techniques Cytogenetics, Molecular genetics, DNA and RNA-based testing, Pharmacogenetic testing, Methylation analysis, Cell culture Source: lab pages No funding stated · No openings posted	Moderator Wed Oct 21 1:30 pm Advances in Clinical Genomics in the Era of AI, Long-Read Sequencing, Precision Medicine, and Genomic Care Delivery Poster Thu Oct 22 4:15 pm Comparing Diagnostic Yield of a Comprehensive ASD/ID/DD Gene Panel and Exome Sequencing in 600+ Pediatric NDD Patients Laboratory Genetics and Genomics Collaborators: University of Cincinnati Exome/genome sequencingGenetic testingIntellectual and developmental disabilityNeurodevelopmental Poster Fri Oct 23 2:30 pm ★ Reviewers’ Choice Clinical Experience with a 288-Gene Panel in Pediatric Cleft and Craniofacial Disorders Laboratory Genetics and Genomics Collaborators: University of Cincinnati Genetic testingMendelian disorderPhenotypeGenomics
Neurobehavioral Treatment Discovery Teamcincinnatichildrens.org/research/divisions/p/psychiatry/labs/erickson-wink/team Wet lab~36 people Studies autism and Fragile X using mouse models, expressive-language sampling and social-preference eye tracking. Targets behavioral biomarkers and drug treatments for developmental disabilities. 43 papers since 2024 › Hyper-extralemniscal model of Fragile X syndrome Cerebral Cortex, 2025 Validating brain activity measures as reliable indicators of individual diagnostic group and genetically mediated sub-group membership in Fragile X Syndrome Scientific Reports, 2024 A near normal distribution of IQ in Fragile X Syndrome Scientific Reports, 2024 Source: OpenAlex author A5012860439 Funded by Cincinnati Children’s Research Foundation, University of Cincinnati Center for Clinical and Translational Science and Training +8 more › Cincinnati Children’s Research Foundation · active “Cincinnati Children’s Research Foundation” University of Cincinnati Center for Clinical and Translational Science and Training · active “University of Cincinnati Center for Clinical and Translational Science and Training” Autism Speaks · active “Autism Speaks” +7 more on the lab page Source: lab pages 6 platforms and techniques › Runs Expressive language sampling, Social preference eye tracking Techniques Mouse models, Compound testing, Repurposed-drug testing, Resting-state EEG Source: lab pages No openings posted	Poster Fri Oct 23 2:30 pm Expanding the Phenotypic Spectrum of IMPDH2-Related Neurodevelopmental Disorder: A Case with the p.Gly207Arg Variant  Complex Traits and Polygenic Disorders Collaborators: University of Cincinnati NeurodevelopmentalClinical geneticsRare variantsGenotype-phenotype correlations
Shaffer Labcincinnatichildrens.org/research/divisions/b/psychology/labs/shaffer/team ~12 people Studies autism and emotion dysregulation through group-intervention trials and SPARK saliva samples. Partners with families, schools and community organizations to improve daily life. 21 papers since 2024 › Frontal cortex hyperactivation and gamma desynchrony in Fragile X syndrome: Correlates of auditory hypersensitivity PLoS ONE, 2025 Examining the feasibility and utility of heart rate variability on intervention outcomes targeting emotion regulation in autism: a brief report Scientific Reports, 2024 A near normal distribution of IQ in Fragile X Syndrome Scientific Reports, 2024 Source: OpenAlex author A5013134939 Funded by Department of Defense, Simons Foundation +2 more › Department of Defense, Regulating Together · active “Regulating Together, Funded by the Department of Defense” Simons Foundation, Outreach and Engagement: Reaching the African American Community · active “Outreach and Engagement: Reaching the African American Community, Funded by Simons Foundation” Simons Foundation, SPARK · active “SPARK, Funded by Simons Foundation” +1 more on the lab page Source: lab pages 3 platforms and techniques › Techniques Group intervention, Saliva sample collection, Canine-assisted therapy Source: lab pages No openings posted	Poster Thu Oct 22 4:15 pm When Guidelines Outpace Capacity: A Systems Analysis of Genome-First Testing for Neurodevelopmental Disorders Health Services Research and Implementation Science AutismClinical geneticsElectronic health recordsExome/genome sequencing
CincyKidsSeq Team Works in rare disease.	Poster Thu Oct 22 4:15 pm Expanding the phenotypic and genotypic spectrum of PBX1 Loss-of-Function: A case report with complex pulmonary manifestations. Mendelian Phenotypes Collaborators: University of Cincinnati Respiratory systemRare variantsNeurodevelopmentalMalformation
1 more presenter — research group not yet identified

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