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
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:e9208.
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:e64000.
RORA-neurodevelopmental disorder: A unique triad of developmental disabilities, cerebellar anomalies, and myoclonic seizures. Genetics in Medicine. 2025; 27:101347.
A Dual Diagnosis of Okur-Chung Neurodevelopmental Syndrome and Becker Muscular Dystrophy: Inquiry Into the Lower Limits of Neurodevelopmental Functioning Attributable to Muscular Dystrophy. Brain and Behavior. 2025; 15:e70276.
Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability. The American Journal of Human Genetics. 2025; 112:75-86.
P189: Endocrinopathies in TAOK1-related neurodevelopmental disorders: An expanded case series on the evolution of symptoms in adolescents and young adults. Genetics in Medicine Open. 2025; 3:102154.
Dual Diagnosis of Fragile X Syndrome and DEPDC5-Related Disorder Emphasizes DEPDC5's Role Beyond Familial Epilepsy: A Case Report and Literature Review. Case Reports in Genetics. 2025; 2025:4501466.
P262: Transformative care through genome sequencing: Insights from the first 100 patients in the CincyKidsSeq Study. Genetics in Medicine Open. 2025; 3:102227.
O32: ANKRD17-related neurodevelopmental syndrome (Chopra-Amiel-Gordon syndrome): Further characterization and emerging genotype-phenotype correlations. Genetics in Medicine Open. 2025; 3:102108.
Refining the phenotype of SINO syndrome: A comprehensive cohort report of 14 novel cases. Genetics in Medicine. 2024; 26:101219.
From the Blog
‘Medical Mystery’: Cincinnati Children’s Diagnoses Child With Tango2
Amelle L. Shillington, DO3/24/2022
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