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
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.
Refining the phenotype of SINO syndrome: A comprehensive cohort report of 14 novel cases. Genetics in Medicine. 2024; 26:101219.
Return of genetic research results in 21,532 individuals with autism. Genetics in Medicine. 2024; 26:101202.
A Case of Lateral Meningocele Syndrome without Lateral Meningoceles. Molecular Syndromology. 2024; 15:328-332.
Arginine, glycine, and creatine supplementation improves symptoms in a female with creatine transporter deficiency. Psychiatric Genetics. 2024; 34:86-90.
Evidence-based recruitment strategies for clinical research: Study personnel's and research participants' perceptions about successful methods of outreach for a U.S. Autism-Research Cohort. Journal of Clinical and Translational Science. 2024; 8:e65.
Neurodevelopmental Disorders Including Autism Spectrum Disorder and Intellectual Disability as a Risk Factor for Delayed Diagnosis of Catatonia. Journal of Developmental and Behavioral Pediatrics. 2024; 45:e137-e142.
Neurodevelopmental and other phenotypes recurrently associated with heterozygous BAZ2B loss-of-function variants. American Journal of Medical Genetics, Part A. 2024; 194:e63445.
P351: Genetic testing for patients with neurodevelopmental disorders in the inpatient psychiatry setting may reduce hospital stays and improve behavioral outcomes. 2024; 2:101245.
Non-canonical C-terminal variant of MeCP2 R344W exhibits enhanced degradation rate. IBRO Neuroscience Reports. 2023; 15:218-224.
From the Blog
‘Medical Mystery’: Cincinnati Children’s Diagnoses Child With Tango2
Amelle L. Shillington, DO3/24/2022
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