-
Chan, F, Yeung, A, Vasudevan, A, Stark, Z, Prystupa, S, Chan, Y, Leong, T, Ireland-Jenkin, K, Fawcett, S, Graetz, M, et al.
Whole Exome Sequencing (WES) enhances the diagnostic rate of perinatal autopsy: A prospective clinical utility trial with implications for prenatal diagnosis.
Pathology
52:
s68 -s69
2020
view publication
-
Tan, TY, Lunke, S, Chong, B, Phelan, D, Fanjul-Fernandez, M, Marum, JE, Kumar, VS, Stark, Z, Yeung, A, Brown, NJ, et al.
A head-to-head evaluation of the diagnostic efficacy and costs of trio versus singleton exome sequencing analysis..
Eur J Hum Genet
27(12)
:
1791 -1799
2019
view publication
-
Akesson, LS, Eggers, S, Love, CJ, Chong, B, Krzesinski, EI, Brown, NJ, Tan, TY, Richmond, CM, Thorburn, DR, Christodoulou, J, et al.
Early diagnosis of Pearson syndrome in neonatal intensive care following rapid mitochondrial genome sequencing in tandem with exome sequencing..
Eur J Hum Genet
27(12)
:
1821 -1826
2019
view publication
-
Foster, A, Zachariou, A, Loveday, C, Ashraf, T, Blair, E, Clayton-Smith, J, Dorkins, H, Fryer, A, Gener, B, Goudie, D, et al.
The phenotype of Sotos syndrome in adulthood: A review of 44 individuals..
Am J Med Genet C Semin Med Genet
181(4)
:
502 -508
2019
view publication
-
Tan, NB, Tan, TY, Martyn, MM, Savarirayan, R, Amor, DJ, Moody, A, White, SM, Stark, Z.
Diagnostic and service impact of genomic testing technologies in a neonatal intensive care unit..
J Paediatr Child Health
55(11)
:
1309 -1314
2019
view publication