-
Bouffler, SE, Lee, L, Lynch, F, Martyn, M, Lynch, E, Macciocca, I, Curnow, L, McCorkell, G, Lunke, S, Chong, B, et al.
Two-step offer and return of multiple types of additional genomic findings to families after ultrarapid trio genomic testing in the acute care setting: a study protocol..
BMJ Open
13(6)
:
e072999
2023
view publication
-
Crawford, DHG, Ramm, GA, Bridle, KR, Nicoll, AJ, Delatycki, MB, Olynyk, JK.
Clinical practice guidelines on hemochromatosis: Asian Pacific Association for the Study of the Liver..
Hepatol Int
17(3)
:
522 -541
2023
view publication
-
Rance, G, Carew, P, Winata, L, Sale, P, Delatycki, M, Sly, D.
Auditory neuropathy in mice and humans with Friedreich ataxia..
Ann Clin Transl Neurol
10(6)
:
953 -963
2023
view publication
-
Rafehi, H, Read, J, Szmulewicz, DJ, Davies, KC, Snell, P, Fearnley, LG, Scott, L, Thomsen, M, Gillies, G, Pope, K, et al.
An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14..
Am J Hum Genet
110(6)
:
1018
2023
view publication
-
Freeman, L, Delatycki, MB, Scully, JL, Briggs, N, Kirk, EP.
Views of healthcare professionals on the inclusion of genes associated with non-syndromic hearing loss in reproductive genetic carrier screening..
Eur J Hum Genet
31(5)
:
548 -554
2023
view publication