-
Ulirsch, JC, Verboon, JM, Kazerounian, S, Guo, MH, Yuan, D, Ludwig, LS, Handsaker, RE, Abdulhay, NJ, Fiorini, C, Genovese, G, et al.
The Genetic Landscape of Diamond-Blackfan Anemia.
American Journal of Human Genetics
103(6)
:
930 -947
2018
view publication
-
Archibald, AD, Smith, MJ, Burgess, T, Scarff, KL, Elliott, J, Hunt, CE, Barns-Jenkins, C, Holt, C, Sandoval, K, Kumar, VS, et al.
Correction: Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: outcomes of 12,000 tests..
Genet Med
20(11)
:
1485
2018
view publication
-
Amor, DJ.
Investigating the child with intellectual disability..
J Paediatr Child Health
54(10)
:
1154 -1158
2018
view publication
-
Ravenscroft, G, Pannell, S, O'Grady, G, Ong, R, Ee, HC, Faiz, F, Marns, L, Goel, H, Kumarasinghe, P, Sollis, E, et al.
Variants in ACTG2 underlie a substantial number of Australasian patients with primary chronic intestinal pseudo-obstruction..
Neurogastroenterol Motil
30(9)
:
e13371
2018
view publication
-
Lee, E, Le, T, Zhu, Y, Elakis, G, Turner, A, Lo, W, Venselaar, H, Verrenkamp, C-A, Snow, N, Mowat, D, et al.
A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations..
Genet Med
20(9)
:
1061 -1068
2018
view publication