-
Temple, SEL, Ho, G, Bennetts, B, Boggs, K, Vidic, N, Mowat, D, Christodoulou, J, Schultz, A, Gayagay, T, Roscioli, T, et al.
The role of exome sequencing in childhood interstitial or diffuse lung disease..
Orphanet J Rare Dis
17(1)
:
350
2022
view publication
-
Bowman-Smart, H, Vears, DF, Brett, GR, Martyn, M, Stark, Z, Gyngell, C.
'Diagnostic shock': the impact of results from ultrarapid genomic sequencing of critically unwell children on aspects of family functioning..
Eur J Hum Genet
30(9)
:
1036 -1043
2022
view publication
-
Cloney, T, Gallacher, L, Pais, LS, Tan, NB, Yeung, A, Stark, Z, Brown, NJ, McGillivray, G, Delatycki, MB, de Silva, MG, et al.
Lessons learnt from multifaceted diagnostic approaches to the first 150 families in Victoria's Undiagnosed Diseases Program..
J Med Genet
59(8)
:
748 -758
2022
view publication
-
DiStefano, MT, Goehringer, S, Babb, L, Alkuraya, FS, Amberger, J, Amin, M, Austin-Tse, C, Balzotti, M, Berg, JS, Birney, E, et al.
The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources..
Genet Med
24(8)
:
1732 -1742
2022
view publication
-
Blombery, P, Ryland, GL, Fox, LC, Stark, Z, Wall, M, Jarmolowicz, A, Roesley, A, Thompson, ER, Grimmond, SM, Panicker, S, et al.
Methyl-CpG binding domain 4, DNA glycosylase (MBD4)-associated neoplasia syndrome associated with a homozygous missense variant in MBD4: Expansion of an emerging phenotype..
Br J Haematol
198(1)
:
196 -199
2022
view publication