-
Sung, V, Downie, L, Halliday, J, Burt, R, Lunke, S, Lynch, E, Martyn, M, Poulakis, Z, Gaff, C, Wake, M, et al.
Whole exome sequencing in infants with congenital hearing loss..
2018
view publication
-
Mei, C, Fedorenko, E, Amor, DJ, Boys, A, Hoeflin, C, Carew, P, Burgess, T, Fisher, SE, Morgan, AT.
Deep phenotyping of speech and language skills in individuals with 16p11.2 deletion..
Eur J Hum Genet
26(5)
:
676 -686
2018
view publication
-
Halliday, JL, Muller, C, Charles, T, Norris, F, Kennedy, J, Lewis, S, Meiser, B, Donath, S, Stark, Z, McGillivray, G, et al.
Offering pregnant women different levels of genetic information from prenatal chromosome microarray: a prospective study..
Eur J Hum Genet
26(4)
:
485 -494
2018
view publication
-
Archibald, AD, Smith, MJ, Burgess, T, Scarff, KL, Elliott, J, Hunt, CE, McDonald, Z, Barns-Jenkins, C, Holt, C, Sandoval, K, et al.
Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: outcomes of 12,000 tests..
Genet Med
20(5)
:
513 -523
2018
view publication
-
de Vos, IJHM, Tao, EY, Ong, SLM, Goggi, JL, Scerri, T, Wilson, GR, Low, CGM, Wong, ASW, Grussu, D, Stegmann, APA, et al.
Functional analysis of a hypomorphic allele shows that MMP14 catalytic activity is the prime determinant of the Winchester syndrome phenotype.
2018
view publication