Dr Nicole Van Bergen
Dr Nicole Van Bergen
Top Publications
- 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. Nature Medicine 29(7) : 1681 -1691 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. Neurology Genetics 9(1) : e200051 2023 view publication
- Rius, R, Van Bergen, NJ, Compton, AG, Riley, LG, Kava, MP, Balasubramaniam, S, Amor, DJ, Fanjul-Fernandez, M, Cowley, MJ, Fahey, MC, et al. Clinical Spectrum and Functional Consequences Associated with Bi-Allelic Pathogenic PNPT1 Variants. Journal of Clinical Medicine 8(11) : 2020 2023 view publication
- Van Bergen, NJ, Crowston, JG, Craig, JE, Burdon, KP, Kearns, LS, Sharma, S, Hewitt, AW, Mackey, DA, Trounce, IA. Measurement of Systemic Mitochondrial Function in Advanced Primary Open-Angle Glaucoma and Leber Hereditary Optic Neuropathy. PLOS ONE 10(10) : e0140919 2023 view publication
- Van Bergen, NJ, Chakrabarti, R, O'Neill, EC, Crowston, JG, Trounce, IA. Mitochondrial disorders and the eye. Eye and Brain Volume 3: 29 -47 2023 view publication
Page 1 of 10
Career information
Share //
