Services and Specialties

Genetics, Epilepsy

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Imaging Similarities Between Oral-Facial-Digital Syndrome Type 1 and Aicardi Syndrome: Prenatal and Postnatal Magnetic Resonance Imaging (MRI) Findings in 4 Patients. Venkatesan, C; Countee, E; Wong, B; Spaeth, C; Kline-Fath, BM; Nagaraj, UD. Journal of Child Neurology. 2023; 38:31-37.

Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder. Khalaf-Nazzal, R; Fasham, J; Inskeep, KA; Blizzard, LE; Leslie, JS; Wakeling, MN; Ubeyratna, N; Mitani, T; Griffith, JL; Baker, W; et al. American Journal of Human Genetics. 2022; 109:2068-2079.

Epilepsy phenotypes associated with MAP1B-related brain malformations. Arya, R; Spaeth, C; Zhang, W. Epileptic Disorders. 2021; 23:392-396.

The gendered pay gap in genetic counseling. Barnett, C; Myers, MF; Spaeth, CG; Pilipenko, V; Bucheit, LA. Journal of Genetic Counseling. 2020; 29:182-191.

Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment. Salpietro, V; Malintan, NT; Llano-Rivas, I; Spaeth, CG; Efthymiou, S; Striano, P; Vandrovcova, J; Cutrupi, MC; Chimenz, R; David, E; et al. American Journal of Human Genetics. 2019; 104:721-730.

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