-
Rinaldi, B, Bayat, A, Zachariassen, LG, Sun, J-H, Ge, Y-H, Zhao, D, Bonde, K, Madsen, LH, Awad, IAA, Bagiran, D, et al.
Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes..
Brain
147(5)
:
1837 -1855
2024
view publication
-
Downie, L, Bouffler, SE, Amor, DJ, Christodoulou, J, Yeung, A, Horton, AE, Macciocca, I, Archibald, AD, Wall, M, Caruana, J, et al.
Gene selection for genomic newborn screening: Moving toward consensus?.
Genet Med
26(5)
:
101077
2024
view publication
-
Gaafar, D, Baxter, N, Cranswick, N, Christodoulou, J, Gwee, A.
Pharmacogenetics of aminoglycoside-related ototoxicity: a systematic review..
J Antimicrob Chemother
2024
view publication
-
AlMail, A, Jamjoom, A, Pan, A, Feng, MY, Chau, V, D'Gama, AM, Howell, K, Liang, NSY, McTague, A, Poduri, A, et al.
Consensus reporting guidelines to address gaps in descriptions of ultra-rare genetic conditions..
NPJ Genom Med
9(1)
:
27
2024
view publication
-
Lunke, S, Bouffler, SE, Downie, L, Caruana, J, Amor, DJ, Archibald, A, Bombard, Y, Christodoulou, J, Clausen, M, De Fazio, P, et al.
Prospective cohort study of genomic newborn screening: BabyScreen+ pilot study protocol..
BMJ Open
14(4)
:
e081426
2024
view publication