Dr Nicole Van Bergen
Dr Nicole Van Bergen
Details
Role
Team Leader / Senior Research Fellow
Research area
Genomic Medicine
Group
Brain and Mitochondrial
Top Publications
- 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
Page 1 of 10
Career information
Share //
