-
Dowsett, L, Porras, AR, Kruszka, P, Davis, B, Hu, T, Honey, E, Badoe, E, Thong, M-K, Leon, E, Girisha, KM, et al.
Cornelia de Lange syndrome in diverse populations..
Am J Med Genet A
179(2)
:
150 -158
2019
view publication
-
Akesson, LS, Eggers, S, Chong, B, Hunter, MF, Krzesinski, E, Brown, NJ, Tan, TY, Richmond, C, Thorburn, DR, Christodoulou, J, et al.
Rapid mitochondrial genome (MTDNA) sequencing: facilitating rapid diagnosis of mitochondrial diseases in paediatric acute care.
Pathology
51:
s118 -s119
2019
view publication
-
Stark, Z, Schofield, D, Martyn, M, Rynehart, L, Shrestha, R, Alam, K, Lunke, S, Tan, TY, Gaff, CL, White, SM.
Correction: Does genomic sequencing early in the diagnostic trajectory make a difference? A follow-up study of clinical outcomes and cost-effectiveness..
Genet Med
21(2)
:
516
2019
view publication
-
Friedman, JM, Bombard, Y, Cornel, MC, Fernandez, CV, Junker, AK, Plon, SE, Stark, Z, Knoppers, BM, Paediatric Task Team of the Global Alliance for Genomics and Health Regulatory and Ethics Work Stream.
Genome-wide sequencing in acutely ill infants: genomic medicine's critical application?.
Genet Med
21(2)
:
498 -504
2019
view publication
-
McBride, L, Crosthwaite, A, Houlihan, C, Stark, Z, Rodda, C.
Rare cause of maternal and neonatal hypercalcaemia..
J Paediatr Child Health
55(2)
:
232 -235
2019
view publication