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 Hospital, 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
Further phenotypical delineation of DLG3-related neurodevelopmental disorders. European Journal of Human Genetics. 2025; 33(12):1585-1595.
A Novel De Novo KDM3B Variant in the Youngest Reported Male Patient With Diets-Jongmans Syndrome and Facial Asymmetry. Clinical Genetics. 2025.
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. 2025.
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. 2025; 1-15.
ZMYND11 functions in bimodal regulation of latent genes and brain-like splicing to safeguard corticogenesis. Nature Communications. 2025; 16(1):9010.
Discovery and validation of small molecule stabilizers of mutant triose phosphate isomerase (TPI) as potential lead candidates for TPI deficiency. SLAS Discovery. 2025; 36:100278.
Long-Term Renal Transplant Success Is Possible in Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia Syndrome: A Case Report. Molecular Syndromology. 2025.
A Case Study of a Female Infant With Primary Hypertrophic Osteoarthropathy Demonstrates That Early Initiation of Celecoxib Slows but Does Not Prevent Symptom Progression. American Journal of Medical Genetics, Part A. 2025; 197(5):e64000.
The phenotypic spectrum of the Cornelia de Lange-like "Alazami-Yuan syndrome": A case report of the 7th diagnosed individual and review of the literature. Clinical Case Reports. 2025; 13(5):e9208.
RORA-neurodevelopmental disorder: A unique triad of developmental disabilities, cerebellar anomalies, and myoclonic seizures. Genetics in Medicine. 2025; 27(4):101347.
From the Blog
‘Medical Mystery’: Cincinnati Children’s Diagnoses Child With Tango2
Amelle L. Shillington, DO3/24/2022
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