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Kirk, EP, Delatycki, MB, Laing, N.
Reproductive genetic carrier screening and inborn errors of metabolism: The voice of the inborn errors of metabolism community needs to be heard.
Journal of Inherited Metabolic Disease
45(5)
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902 -906
2022
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Freeman, L, Righetti, S, Delatycki, MB, Scully, JL, Kirk, EP.
The views of people with a lived experience of deafness and the general public regarding genetic testing for deafness in the reproductive setting: A systematic review.
Genetics in Medicine
24(9)
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1803 -1813
2022
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Rance, G, Maier, A, Zanin, J, Haebich, KM, North, KN, Orsini, F, Dabscheck, G, Delatycki, MB, Payne, JM.
A randomized controlled trial of remote microphone listening devices to treat auditory deficits in children with neurofibromatosis type 1.
Neurological Sciences
43(9)
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5637 -5641
2022
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Stutterd, CA, Vanderver, A, Lockhart, PJ, Helman, G, Pope, K, Uebergang, E, Love, C, Delatycki, MB, Thorburn, D, Mackay, MT, et al.
Unclassified white matter disorders: A diagnostic journey requiring close collaboration between clinical and laboratory services.
European Journal of Medical Genetics
65(9)
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104551
2022
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Righetti, S, Allcock, RJN, Yaplito-Lee, J, Adams, L, Ellaway, C, Jones, KJ, Selvanathan, A, Fletcher, J, Pitt, J, van Kuilenburg, ABP, et al.
The relationship between beta-ureidopropionase deficiency due to UPB1 variants and human phenotypes is uncertain.
Molecular Genetics and Metabolism
137(1-2)
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62 -67
2022
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