-
Ho, G, Gold, W, Williamson, S, Christodoulou, J.
Pathogenicity of C-terminal mutations in CDKL5.
Journal of Pediatric Epilepsy
01(03)
:
185 -186
2024
view publication
-
Helman, G, Compton, AG, Hock, DH, Walkiewicz, M, MGenCouns, GRB, Pais, L, Tan, TY, De Paoli-Iseppi, R, Clark, MB, Christodoulou, J, et al.
RNA sequencing identifies a cryptic exon caused by a deep intronic variant in NDUFB10 resulting in isolated Complex I deficiency.
2020.05.21.20104265
2024
view publication
-
Rafehi, H, Szmulewicz, DJ, Pope, K, Wallis, M, Christodoulou, J, White, SM, Delatycki, MB, Lockhart, PJ, Bahlo, M.
Rapid diagnosis of SCA36 in a three-generation family using short-read whole genome sequencing data.
851675
2024
view publication
-
Jurgens, J, Chen, S, Sobreira, N, Robbins, S, Anzmann, AF, Dastgheyb, R, Khuder, SS, Hoover-Fong, J, Woods, C, Collins, F, et al.
Loss of function variants in PCYT1A causing spondylometaphyseal dysplasia with cone/rod dystrophy have broad consequences on lipid metabolism, chondrocyte differentiation, and lipid droplet formation.
2024
view publication
-
Boyle, L, Rao, L, Kaur, S, Fan, X, Mebane, C, Hamm, L, Thornton, A, Ahrendsen, JT, Anderson, MP, Christodoulou, J, et al.
Genotype and defects in microtubule-based motility correlate with clinical severity in KIF1A Associated Neurological Disorder.
2024
view publication