-
Dashnow, H, Bell, KM, Stark, Z, Tan, TY, White, SM, Oshlack, A.
Pooled-parent exome sequencing to prioritise de novo variants in genetic disease.
601740
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
-
Gong, NN, Dilley, LC, Williams, CE, Moscato, EH, Szuperak, M, Wang, Q, Jensen, M, Girirajan, S, Tan, TY, Deardorff, MA, et al.
The chromatin remodeler ISWI acts during Drosophila development to regulate adult sleep.
2024
view publication
-
Clark, MM, Stark, Z, Farnaes, L, Tan, TY, White, SM, Dimmock, D, Kingsmore, SF.
A meta-analysis of the diagnostic sensitivity and clinical utility of genome sequencing, exome sequencing and chromosomal microarray in children with suspected genetic diseases.
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