Amelle L. Shillington, DO
- Attending Physician, Division of Human Genetics
- Associate Program Director, Medical Genetics and Genomics Residencies
- Assistant Professor, UC Department of Pediatrics
- amelle.shillington@cchmc.org
- Board Certified
About
Biography
I am a board certified clinical geneticist, and am an attending physician and assistant professor in the division of human genetics. My interests include the clinical evaluation and diagnosis of genetic syndromes and risk variants in children and adults with neurodevelopmental disorders including autism spectrum disorder, intellectual disability and psychiatric disease burden. The focus of my research is on increasing accessibility to genetic testing for patients with neurodevelopmental disorders. I have an interest in emerging technologies for clinical diagnosis of neurodevelopmental disorders and have active collaborations to explore long read genomic sequencing techniques. I am the site clinical geneticist for the SPARK Simon’s foundation research genomic sequencing for patients with autism and for the Autism Care Network PATH to Discovery Project.
Residency: Combined Pediatric Medical Genetics, Cincinnati Children’s, Cincinnati, OH, 2017-2021
DO: University of North Texas, Fort Worth, TX, 2017
BA: Psychology with Honors, University of Waterloo, Canada, 1996-2000
Interests
Autism spectrum disorder; intellectual disability; neurodevelopmental disorders; psychiatric genetics
Services and Specialties
Interests
Mendelian neurodevelopmental disorders; neurodevelopmental new gene discovery; psychiatric genetics; catatonia; autism; intellectual disability
Insurance Information
Cincinnati Children's strives to accept a wide variety of health plans. Please contact your health insurance carrier to verify coverage for your specific benefit plan.
Publications
CMIP as a novel candidate gene for neurodevelopmental and neuropsychiatric disorders. European Journal of Human Genetics. 2026.
Delineating the clinical and molecular spectrum of the neurodevelopmental disorder associated with SET. Genetics in Medicine. 2026; 102637.
Conferring a Genetic Diagnosis for Children with Neurodevelopmental Disorders in the Inpatient Psychiatry Setting May Reduce Hospital Stays and Improve Behavior. Advances in Neurodevelopmental Disorders. 2026; 10(2):241-255.
Management of Gastrointestinal Comorbidities Improves Behavioral Symptoms in a Patient with Kleefstra Syndrome. Journal of Developmental and Physical Disabilities. 2026; 1-11.
A Novel De Novo KDM3B Variant in the Youngest Reported Male Patient With Diets-Jongmans Syndrome and Facial Asymmetry. Clinical Genetics. 2026; 109(5):926-930.
Long-Term Renal Transplant Success Is Possible in Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia Syndrome: A Case Report. Molecular Syndromology. 2026; 17(2):154-159.
Expanding Access to Genome Sequencing: Higher Diagnostic Yield in Self-Referred Participants From the CincyKidsSeq Study and Implications for Hybrid Models of Genetic Service Delivery. Clinical Genetics. 2026; 109(4):717-724.
Differential negative dominance by KCNA2 variants associated with global developmental delay suggests KCNA2 haploinsufficiency in humans. Journal of Physiology. 2026; 604(8):3413-3430.
P112: Diagnostic utility of validated episignatures for recurrent constellations of embryonic malformations in inpatient settings: A retrospective cohort analysis* Genetics in Medicine Open. 2026; 4:103606.
Further phenotypical delineation of DLG3-related neurodevelopmental disorders. European Journal of Human Genetics. 2025; 33(12):1585-1595.
From the Blog
‘Medical Mystery’: Cincinnati Children’s Diagnoses Child With Tango2
Amelle L. Shillington, DO3/24/2022
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