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Amelle Shillington

Amelle Shillington

Clinical Geneticist, Cincinnati Children's Hospital Medical Center
I am an attending physician and assistant professor of Pediatric Genetics. My interests as an early career clinical researcher 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. As part of a growing collaboration of clinical physicians and researchers interested in molecular neuroscience (The Mind Brain Behavior consortium at Cincinnati Children's Hospital) we have identified a growing need for molecular diagnosis and personalized medicine in patients with neurodevelopmental disorders. We continue to identify patients with rare genetic diagnoses in genes known to play an important role in neuronal development, which has warranted further collaborations with colleagues in our institution's division of Developmental Biology to characterize these findings using parallel translational modules. I am involved in genotype/phenotype projects of gene-specific syndromes including ZMYND11 and CDKL5. I have a keen interest in understanding the genetic and molecular drivers of pediatric catatonia, and am working collaboratively with my colleagues in the Division of Psychiatry to create a multidisciplinary clinic for evaluation and treatment of catatonia. I have an interest in emerging technologies for clinical diagnosis of neurodevelopmental disorders and have active collaborations to explore long read genomic sequencing techniques. Finally I am the site Clinical Geneticist for the SPARK Simon's foundation research whole genome sequencing for patients with autism. I mentor medical students, residents and fellows in a teaching hospital, and am the Associate Residency Director for the Pediatric Genetics residency program at Cincinnati Children's.