A photo of Amelle Shillington.

Amelle L. Shillington, DO


  • Attending Physician, Division of Human Genetics
  • Associate Program Director, Medical Genetics and Genomics Residencies
  • Assistant Professor, UC Department of Pediatrics

About

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

Genetics

Interests

Mendelian neurodevelopmental disorders; neurodevelopmental new gene discovery; psychiatric genetics; catatonia; autism; intellectual disability

Insurance Information

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Publications

Non-canonical C-terminal variant of MeCP2 R344W exhibits enhanced degradation rate. Chai, Y; Lee, SS Y; Shillington, A; Du, X; Fok, CK M; Yeung, KC; Siu, GK Y; Yuan, S; Zheng, Z; Tsang, HW S; et al. IBRO Neuroscience Reports. 2023; 15:218-224.

Genetic syndromes are prevalent in patients with comorbid neurodevelopmental disorders and catatonia. Shillington, A; Zappia, KJ; White, L; Fosdick, C; Erickson, CA; Lamy, M; Dominick, KC. American Journal of Medical Genetics, Part A. 2023; 191:2716-2722.

Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals. Bosch, E; Popp, B; Güse, E; Skinner, C; van der Sluijs, PJ; Maystadt, I; Pinto, AM; Renieri, A; Bruno, LP; Granata, S; et al. Genetics in Medicine. 2023; 25:100950.

27.4 Catatonia in Neurodevelopmental Disorders and the Creation of a Neurobehavioral Catatonia Specialty Clinic. Dominick, KC; Zappia, K; Shillington, A; Fosdick, CM; Lamy, M; Erickson, CA. Journal of the American Academy of Child and Adolescent Psychiatry. 2023; 62:s366-s367.

Novel Pathogenic DNAH5 Variants in Primary Ciliary Dyskinesia: Association with Visceral Heterotaxia and Neonatal Cholestasis. Lin, HT; Gupta, A; Bove, KE; Szabo, S; Xu, F; Krentz, A; Shillington, AL. Journal of Pediatric Genetics. 2023; 12:246-253.

A novel RYR1 variant in an infant with a unique fetal presentation of central core disease. Baker, EK; Al Gharaibeh, FN; Bove, K; Calvo-Garcia, MA; Shillington, A; VandenHeuvel, K; Cortezzo, DM E. American Journal of Medical Genetics, Part A. 2023; 191:1646-1651.

Consolidation of the clinical and genetic definition of a SOX4-related neurodevelopmental syndrome. Angelozzi, M; Karvande, A; Molin, AN; Ritter, AL; Leonard, JM M; Savatt, JM; Douglass, K; Myers, SM; Grippa, M; Tolchin, D; et al. Journal of medical genetics. 2022; 59:1058-1068.

Familial Brain Calcifications With Leukoencephalopathy: A Novel PDGFB Variant. Shen, J; Shillington, A; Espay, AJ; Hill, EJ. Neurology: Genetics. 2022; 8:e200001.

A Collaborative Psychiatric-Genetics Inpatient Care Delivery Model Improves Access to Clinical Genetic Evaluation, Testing, and Diagnosis for Patients With Neurodevelopmental Disorders. Shillington, A; Lamy, M; Dominick, KC; Sorter, M; Erickson, CA; Hopkin, R. Frontiers in Genetics. 2022; 13:901458.

ZMYND11 variants are a novel cause of centrotemporal and generalised epilepsies with neurodevelopmental disorder. Oates, S; Absoud, M; Goyal, S; Bayley, S; Baulcomb, J; Sims, A; Riddett, A; Allis, K; Brasch-Andersen, C; Balasubramanian, M; et al. Clinical Genetics: an international journal of genetics and molecular medicine. 2021; 100:412-429.

From the Blog

‘Medical Mystery’: Cincinnati Children’s Diagnoses Child With Tango2
Genomics and Development

‘Medical Mystery’: Cincinnati Children’s Diagnoses Child With Tango2

Amelle L. Shillington, DO3/24/2022

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