-
Butcher, S, Smith, M, Woodcock, IR, Delatycki, M, Ryan, MM, Forbes, R.
False Negative Carrier Screening in Spinal Muscular Atrophy..
J Child Neurol
35(4)
:
274 -277
2020
view publication
-
Delatycki, MB, Alkuraya, F, Archibald, A, Castellani, C, Cornel, M, Grody, WW, Henneman, L, Ioannides, AS, Kirk, E, Laing, N, et al.
International perspectives on the implementation of reproductive carrier screening..
Prenat Diagn
40(3)
:
301 -310
2020
view publication
-
Koczkowska, M, Callens, T, Chen, Y, Gomes, A, Hicks, AD, Sharp, A, Johns, E, Uhas, KA, Armstrong, L, Bosanko, KA, et al.
Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1..
Hum Mutat
41(1)
:
299 -315
2020
view publication
-
Tiller, J, Morris, S, Rice, T, Barter, K, Riaz, M, Keogh, L, Delatycki, MB, Otlowski, M, Lacaze, P.
Correction to: Genetic discrimination by Australian insurance companies: a survey of consumer experiences..
Eur J Hum Genet
28(1)
:
137
2020
view publication
-
Tiller, J, Morris, S, Rice, T, Barter, K, Riaz, M, Keogh, L, Delatycki, MB, Otlowski, M, Lacaze, P.
Genetic discrimination by Australian insurance companies: a survey of consumer experiences..
Eur J Hum Genet
28(1)
:
108 -113
2020
view publication