-
Santos Gonzalez, F, Mordaunt, D, Stark, Z, Dalziel, K, Christodoulou, J, Goranitis, I.
Microcosting diagnostic genomic sequencing: A systematic review..
Genet Med
25(6)
:
100829
2023
view publication
-
Gyngell, C, Lynch, F, Vears, D, Bowman-Smart, H, Savulescu, J, Christodoulou, J.
Storing paediatric genomic data for sequential interrogation across the lifespan..
J Med Ethics
2023
view publication
-
Selvanathan, A, Forwood, C, Russell, J, Batten, K, Thompson, S, Palmer, EE, Macintosh, R, Nightingale, S, Mitchell, R, Alvaro, F, et al.
Rapid whole-genome sequencing leading to specific treatment for two infants with haemophagocytic lymphohistiocytosis due to Wolman disease..
Pediatr Blood Cancer
e30394
2023
view publication
-
Neyroud, AS, Rudinger-Thirion, J, Frugier, M, Riley, LG, Bidet, M, Akloul, L, Simpson, A, Gilot, D, Christodoulou, J, Ravel, C, et al.
LARS2 variants can present as premature ovarian insufficiency in the absence of overt hearing loss..
Eur J Hum Genet
31(4)
:
453 -460
2023
view publication
-
Stark, Z, Boughtwood, T, Haas, M, Braithwaite, J, Gaff, CL, Goranitis, I, Spurdle, AB, Hansen, DP, Hofmann, O, Laing, N, et al.
Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare..
Am J Hum Genet
110(3)
:
419 -426
2023
view publication