Amelle L. Shillington, DO

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. Goin-Kochel, RP; Lozano, I; Duhon, G; Marzano, G; Daniels, A; Law, JK; Diehl, K; Snyder, LA G; Feliciano, P; Chung, WK; Campo-Soria, C; Caprara, G; Carbone, P; Carpenter, L. Journal of Clinical and Translational Science. 2024; 8:e65.

Neurodevelopmental and other phenotypes recurrently associated with heterozygous BAZ2B loss-of-function variants. Sewani, S; Azamian, MS; Mendelsohn, BA; Mau-Them, FT; Réda, M; Nambot, S; Isidor, B; van der Smagt, JJ; Shen, JJ; Shillington, A; Kinali, M; Zhao, X; Lalani, SR; Scott, DA. American Journal of Medical Genetics, Part A. 2024; 194:e63445.

Neurodevelopmental Disorders Including Autism Spectrum Disorder and Intellectual Disability as a Risk Factor for Delayed Diagnosis of Catatonia. Zappia, KJ; Shillington, A; Fosdick, C; Erickson, CA; Lamy, M; Dominick, KC. Journal of Developmental and Behavioral Pediatrics. 2024; 45:e137-e142.

P351: Genetic testing for patients with neurodevelopmental disorders in the inpatient psychiatry setting may reduce hospital stays and improve behavioral outcomes. Shillington, A; White, L; Doberstein, R; Hopkin, R; Harris, K; Zappia, K; Lamy, M. 2024; 2:101245.

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; Gu, S; Chen, Y; Ye, T; Ip, JP K. 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; Severino, M; Reis, A; Accogli, A; Vasileiou, G. 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.