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Ayres, S, Gallacher, L, Stark, Z, Brett, GR.
Genetic counseling in pediatric acute care: Reflections on ultra-rapid genomic diagnoses in neonates..
J Genet Couns
28(2)
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2019
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Kennedy, J, Goudie, D, Blair, E, Chandler, K, Joss, S, McKay, V, Green, A, Armstrong, R, Lees, M, Kamien, B, et al.
KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants..
Genet Med
21(4)
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2019
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Rehman, AU, Najafi, M, Kambouris, M, Al-Gazali, L, Makrythanasis, P, Rad, A, Maroofian, R, Rajab, A, Stark, Z, Hunter, JV, et al.
Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function..
Hum Mutat
40(3)
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267 -280
2019
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Jayasinghe, K, Quinlan, C, Stark, Z, Patel, C, Mallawaarachchi, A, Wardrop, L, Kerr, PG, Trnka, P, Mallett, AJ, KidGen Collaborative.
Renal genetics in Australia: Kidney medicine in the genomic age..
Nephrology (Carlton)
24(3)
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279 -286
2019
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Rehman, AU, Najafi, M, Kambouris, M, AlāGazali, L, Makrythanasis, P, Rad, A, Maroofian, R, Rajab, A, Stark, Z, Hunter, JV, et al.
Cover Image, Volume 40, Issue 3.
Human Mutation
40(3)
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i -i
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