Dr Lilian Downie
Dr Lilian Downie
Details
Role
Genomics Diagnostic Clinician
Group
TGU Clinical Genomics
Top Publications
- Tutty, E, Kanga-Parabia, A, Kugenthiran, N, Caruana, J, Downie, L, Gaff, C, Lang, N, Lunke, S, Scarff, K, Stark, Z, et al. Parental experiences of receiving genomic newborn screening results: findings from the BabyScreen+ study.. Eur J Hum Genet 2026 view publication
- Lee, E, Sim, S, Choi, H-J, Liang, EY, Le, C, Bina, R, Cohen, R, George, E, Kim, SY, Bhat, G, et al. SUPT16H-associated neurodevelopmental disorder and neurocristopathy: genetic and phenotypic spectrum.. Hum Mol Genet 35(4) : 2026 view publication
- Downie, L, Caruana, J, Kugenthiran, N, Kanga-Parabia, A, Tutty, E, Bombard, Y, Clausen, M, Bouffler, S, Gaff, C, Archibald, AD, et al. Supporting decisions about genomic newborn screening at scale in the digital age: the BabyScreen+ study.. NPJ Genom Med 2026 view publication
- Mighton, C, Jan, A, Lee, L, Bouffler, S, Downie, L, Clausen, M, Gaff, C, Bombard, Y, Stark, Z, Martyn, M. Impact of a digital platform on genetic counselling encounters in the screening context.. Eur J Hum Genet 2026 view publication
- Kaspi, A, Hildebrand, MS, Jackson, VE, Braden, R, van Reyk, O, Howell, T, Debono, S, Lauretta, M, Morison, L, Coleman, M, et al. Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain development. 2026 view publication
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