Details
Role
Clinical Geneticist
Group
Clinical Services
Top Publications
-
Righetti, S, Dive, L, Archibald, AD, Freeman, L, McClaren, B, Kanga-Parabia, A, Delatycki, MB, Laing, NG, Kirk, EP, Newson, AJ, et al.
Correspondence on “Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG)” by Gregg et al.
Genetics in Medicine
24(5)
:
1158 -1161
2022
view publication
-
Forbes, TA, Wallace, J, Kumble, S, Delatycki, MB, Stark, Z.
Neonatal Bartter syndrome diagnosed by rapid genomics following low risk pre‐conception carrier screening.
Journal of Paediatrics and Child Health
58(5)
:
758 -761
2022
view publication
-
Shishegar, R, Harding, IH, Selvadurai, LP, Corben, LA, Delatycki, MB, Egan, GF, Georgiou-Karistianis, N.
Longitudinal investigation of brain activation during motor tasks in Friedreich ataxia: 24-month data from IMAGE-FRDA.
Brain Structure and Function
227(3)
:
809 -819
2022
view publication
-
King, E, Halliday, J, Archibald, AD, Delatycki, M, Barlow-Stewart, K, Newson, AJ, McClaren, BJ.
Development and use of the Australian reproductive genetic carrier screening decision aid.
European Journal of Human Genetics
30(2)
:
194 -202
2022
view publication
-
Bartlett, E, Archibald, AD, Francis, D, Ling, L, Thomas, R, Chandler, G, Ward, L, O'Farrell, G, Pandelache, A, Delatycki, MB, et al.
Paternal retraction of a fragile X allele to normal size, showing normal function over two generations.
American Journal of Medical Genetics Part A
188(1)
:
304 -309
2022
view publication
