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Francis, DI, Stark, Z, Scheffer, IE, Tan, TY, Murali, K, Gallacher, L, Amor, DJ, Goel, H, Downie, L, Stutterd, CA, et al.
Comparing saliva and blood for the detection of mosaic genomic abnormalities that cause syndromic intellectual disability..
Eur J Hum Genet
31(5)
:
521 -525
2023
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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
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Horton, AE, Lunke, S, Sadedin, S, Fennell, AP, Stark, Z.
Elusive variants in autosomal recessive disease: how can we improve timely diagnosis?.
Eur J Hum Genet
31(4)
:
371 -374
2023
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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)
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419 -426
2023
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Van Bergen, NJ, Gunanayagam, K, Bournazos, AM, Walvekar, AS, Warmoes, MO, Semcesen, LN, Lunke, S, Bommireddipalli, S, Sikora, T, Patraskaki, M, et al.
Severe NAD(P)HX Dehydratase (NAXD) Neurometabolic Syndrome May Present in Adulthood after Mild Head Trauma..
Int J Mol Sci
24(4)
:
2023
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