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

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.

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.

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. 2021; 100:412-429.

Clinical RNA sequencing confirms compound heterozygous intronic variants in RYR1 in a patient with congenital myopathy, respiratory failure, neonatal brain hemorrhage, and d-transposition of the great arteries. Shillington, A; Zea Vera, A; Perry, T; Hopkin, R; Thomas, C; Cooper, D; Suhrie, K. Molecular genetics & genomic medicine. 2021; 9.

Case Report: Is Catatonia a Clinical Feature of the Natural Progression of NLGN2-Related Neurodevelopmental Disorder?. Shillington, A; Lamy, M; Vawter-Lee, M; Erickson, C; Saal, H; Comoletti, D; Abell, K. Journal of Autism and Developmental Disorders. 2021; 51:371-376.

Genetic testing in patients with nonsyndromic autism spectrum disorder and EEG abnormalities with or without epilepsy: Is exome trio-based testing the best clinical approach?. Shillington, A; Capal, JK. Epilepsy and Behavior. 2021; 114.

Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants. Zhang, LX; Lemire, G; Gonzaga-Jauregui, C; Molidperee, S; Galaz-Montoya, C; Liu, DS; Verloes, A; Shillington, AG; Izumi, K; Ritter, AL; et al. Genetics in Medicine. 2020; 22:1338-1347.

Early behavioral and developmental interventions in ADNP-syndrome: A case report of SWI/SNF-related neurodevelopmental syndrome. Shillington, A; Pedapati, E; Hopkin, R; Suhrie, K. Molecular genetics & genomic medicine. 2020; 8.

Loss- or Gain-of-Function Mutations in ACOX1 Cause Axonal Loss via Different Mechanisms. Chung, H; Wangler, MF; Marcogliese, PC; Jo, J; Ravenscroft, TA; Zuo, Z; Duraine, L; Sadeghzadeh, S; Li-Kroeger, D; Schmidt, RE; et al. Neuron. 2020; 106:589-606.e6.

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Genomics and Development

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Amelle L. Shillington, DO3/24/2022

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