-
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
-
Li, D, Wang, Q, Gong, NN, Kurolap, A, Feldman, HB, Boy, N, Brugger, M, Grand, K, McWalter, K, Sacoto, MJG, et al.
Pathogenic variants in SMARCA5, a chromatin remodeler, cause a range of syndromic neurodevelopmental features.
2024
view publication
-
McKnight, D, Bean, L, Karbassi, I, Beattie, K, Bienvenu, T, Bonin, H, Fang, P, Christodoulou, J, Friez, M, Helgeson, M, et al.
Recommendations by the ClinGen Rett/Angelman-like Expert Panel for Gene-specific Variant Interpretation Methods.
2024
view publication