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.