-
Fennell, AP, Baxter, AE, Berkovic, SF, Ellaway, CJ, Forwood, C, Hildebrand, MS, Kumble, S, McKeown, C, Mowat, D, Poke, G, et al.
The diverse pleiotropic effects of spliceosomal protein PUF60: A case series of Verheij syndrome..
Am J Med Genet A
188(12)
:
3432 -3447
2022
view publication
-
Lynch, F, Prentice, T, Gillam, L, Stark, Z, Gyngell, C.
Rapid Genome Sequencing: Consent for New Technologies in the Neonatal Intensive Care Context..
Pediatrics
150(6)
:
2022
view publication
-
Tucker, EJ, Tan, TY, Stark, Z, Sinclair, AH.
Genomic testing in premature ovarian insufficiency: proceed with caution..
Biol Reprod
107(5)
:
1155 -1158
2022
view publication
-
Tudini, E, Andrews, J, Lawrence, DM, King-Smith, SL, Baker, N, Baxter, L, Beilby, J, Bennetts, B, Beshay, V, Black, M, et al.
Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation..
Am J Hum Genet
109(11)
:
1960 -1973
2022
view publication
-
Lynch, F, Nisselle, A, Stark, Z, Gaff, CL, McClaren, B.
Genetics follow up after rapid genomic sequencing in intensive care: current practices and recommendations for service delivery..
Eur J Hum Genet
30(11)
:
1276 -1282
2022
view publication