-
Francis, D, Lall, P, Ayres, S, Van Bergen, NJ, Christodoulou, J, Brown, NJ, Kalitsis, P.
De novo enhancer deletion of LMX1B produces a mild nail-patella clinical phenotype..
Clin Genet
105(2)
:
214 -219
2024
view publication
-
Wong, RCB, Lim, SY, Hung, SSC, Jackson, S, Khan, S, Van Bergen, NJ, De Smit, E, Liang, HH, Kearns, LS, Clarke, L, et al.
Mitochondrial replacement in an iPSC model of Leber’s hereditary optic neuropathy.
2024
view publication
-
Lunke, S, Bouffler, SE, Patel, CV, Sandaradura, SA, Wilson, M, Pinner, J, Hunter, MF, Barnett, CP, Wallis, M, Kamien, B, et al.
Integrated multi-omics for rapid rare disease diagnosis on a national scale..
Nat Med
29(7)
:
1681 -1691
2023
view publication
-
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
view publication
-
Massey, S, Guo, Y, Riley, LG, Van Bergen, NJ, Sandaradura, SA, McCusker, E, Tchan, M, Thauvin-Robinet, C, Thomas, Q, Moreau, T, et al.
Expanding the Allelic Heterogeneity of ANO10-Associated Autosomal Recessive Cerebellar Ataxia..
Neurol Genet
9(1)
:
e200051
2023
view publication