-
Sadedin, SP, Ellis, JA, Masters, SL, Oshlack, A.
Ximmer: A system for improving accuracy and consistency of CNV calling from exome data.
GigaScience
7(10)
:
giy112-
2018
view publication
-
Baker, K, Gordon, SL, Melland, H, Bumbak, F, Scott, DJ, Jiang, TJ, Owen, D, Turner, BJ, Boyd, SG, Rossi, M, et al.
SYT1-associated neurodevelopmental disorder: a case series.
Brain
141(9)
:
2576 -2591
2018
view publication
-
Stark, Z, Dashnow, H, Lunke, S, Tan, TY, Yeung, A, Sadedin, S, Thorne, N, Macciocca, I, Gaff, C, Oshlack, A, et al.
A clinically driven variant prioritization framework outperforms purely computational approaches for the diagnostic analysis of singleton WES data.
European Journal of Human Genetics
25(11)
:
1268 -1272
2017
view publication
-
Tan, TY, Dillon, OJ, Stark, Z, Schofield, D, Alam, K, Shrestha, R, Chong, B, Phelan, D, Brett, GR, Creed, E, et al.
Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions.
JAMA Pediatrics
171(9)
:
855 -862
2017
view publication
-
Eggers, S, Sadedin, S, van den Bergen, JA, Robevska, G, Ohnesorg, T, Hewitt, J, Lambeth, L, Bouty, A, Knarston, IM, Tan, TY, et al.
Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort.
Genome Biology
17(1)
:
243
2016
view publication