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.
Autism spectrum disorder; intellectual disability; neurodevelopmental disorders; psychiatric genetics
Genetics
Mendelian neurodevelopmental disorders; neurodevelopmental new gene discovery; psychiatric genetics; catatonia; autism; intellectual disability
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Non-canonical C-terminal variant of MeCP2 R344W exhibits enhanced degradation rate. IBRO Neuroscience Reports. 2023; 15:218-224.
Genetic syndromes are prevalent in patients with comorbid neurodevelopmental disorders and catatonia. 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. Genetics in Medicine. 2023; 25:100950.
27.4 Catatonia in Neurodevelopmental Disorders and the Creation of a Neurobehavioral Catatonia Specialty Clinic. 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. Journal of Pediatric Genetics. 2023; 12:246-253.
A novel RYR1 variant in an infant with a unique fetal presentation of central core disease. American Journal of Medical Genetics, Part A. 2023; 191:1646-1651.
Consolidation of the clinical and genetic definition of a SOX4-related neurodevelopmental syndrome. Journal of medical genetics. 2022; 59:1058-1068.
Familial Brain Calcifications With Leukoencephalopathy: A Novel PDGFB Variant. 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. Frontiers in Genetics. 2022; 13:901458.
ZMYND11 variants are a novel cause of centrotemporal and generalised epilepsies with neurodevelopmental disorder. Clinical Genetics: an international journal of genetics and molecular medicine. 2021; 100:412-429.
Amelle L. Shillington, DO3/24/2022
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