ASHG 2026 · Hospital & health system
Children's Mercy Hospital at ASHG 2026
Kansas City, Missouri
Children's Mercy Hospital at ASHG 2026 in Montréal: 8 presentations (7 posters, 1 platform talk); 7 research groups.
8
presentations on the program
7
research groups identified
| Organization | ASHG 2026 Attendance |
|---|---|
Children's Mercy Hospital Kansas City, Missouri | 4 Clinicians · 3 Staff Scientists · 1 PI |
Genomic Medicine Centerchildrensmercy.org/childrens-mercy-research-institute/research-areas/genomic-medicine-center Runs HiFi, 5-base, whole-genome and exome sequencing; analyzes methylation and expressed RNA. GA4K supports pediatric rare-disease diagnosis and treatment discovery.
| Poster Fri Oct 23 2:30 pm Direct-to-provider genomic testing model to help reach more rare disease patients DiagnosticsEducationExome/genome sequencingGenetic testing Poster Fri Oct 23 2:30 pm High-Resolution Genomics Analysis of Chromosome 22q11.2 Deletion Syndrome BioinformaticsEpigeneticsImmune systemMulti-omics |
Division of Clinical Geneticschildrensmercy.org/departments-and-clinics/genetics-clinic/genetics-clinic-team Provides biochemical testing, chromosome analysis, microarray comparative genomic hybridization and molecular DNA studies. Evaluates inherited conditions, chromosome disorders and genetic birth defects in children.
| Poster Thu Oct 22 4:15 pm Germline RRAS Pathogenic Variant in Neonate with Clinical Features of Noonan Syndrome Rare variantsPhenotypeGenotype-phenotype correlationsGenetic testing |
Genetics Clinicchildrensmercy.org/departments-and-clinics/genetics-clinic/genetics-clinic-team Provides biochemical testing, chromosome analysis, microarray comparative genomic hybridization and molecular DNA studies. Evaluates inherited conditions, chromosome disorders and genetic birth defects in children.
| Poster Fri Oct 23 2:30 pm Expanding the reported clinical severity of a recurrent variant in FLNC Cardiovascular systemCharacterization of syndromesClinical geneticsClinical testing |
Polyposis Centerchildrensmercy.org/departments-and-clinics/gastroenterology/gastrointestinal-polyposis Uses genetic testing, double-balloon enteroscopy and video capsule endoscopy for pediatric hereditary polyposis. Works with the Genome Center on cancer-risk and treatment questions.
| Poster Thu Oct 22 4:15 pm Discovery of gastric adenocarcinoma in a 17 year-old patient with a germline pathogenic variant in CTNNA1 Genetic counselingGastrointestinal systemCancerCancer syndromes |
Smail Lab at Children's Mercy Hospitalsites.google.com/view/smail-lab/home Uses PacBio HiFi long-read WGS, short- and long-read genomic data and single-cell RNA-sequencing. Maps rare DNA variation and uncovers pathogenic variants in undiagnosed rare diseases.
| Poster Fri Oct 23 2:30 pm Population-Specific Structural Variant Landscape in a Puerto Rican Rare Disease Cohort Population geneticsLong-read sequencingGenetic variationCopy number/structural variation |
Younger Laboratoryyoungerlab.org Generates patient-derived iPSCs and organoids for high-throughput phenotypic and patient-specific drug screening. Supports clinical implementation of patient-specific drug-response prediction.
| Talk Fri Oct 23 1:30 pm Rapid individualized drug repurposing for the treatment of rare genetic diseases using patient-derived organoids Precision medicineTranslational studies and preclinical trialsEpilepsyStem cell |
Laboratory of Immunogenomics (Bradley Lab) Works in clinical genetics. | Poster Thu Oct 22 4:15 pm Unraveling Clinical Variability in Children with Down Syndrome: A Single-Immune Cell Genomics Approach AneuploidyAutoimmune disorderImmune systemMulti-omics |
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