Details

Role Team Leader / Senior Research Fellow

Research area Genomic Medicine

Group Brain and Mitochondrial

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Available for student supervision

Schönewolf-Greulich, B, Bisgaard, A-M, Dunø, M, Jespersgaard, C, Rokkjaer, M, Hansen, LK, Tsoutsou, E, Sofokleous, C, Topcu, M, Kaur, S, et al. Mosaic MECP2 variants in males with classical Rett syndrome features, including stereotypical hand movements.. Clin Genet 95(3) : 403 -408 2019
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Schönewolf-Greulich, B, Bisgaard, A-M, Møller, RS, Dunø, M, Brøndum-Nielsen, K, Kaur, S, Van Bergen, NJ, Lunke, S, Eggers, S, Jespersgaard, C, et al. Clinician's guide to genes associated with Rett-like phenotypes-Investigation of a Danish cohort and review of the literature.. Clin Genet 95(2) : 221 -230 2019
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Rius, R, Riley, LG, Guo, Y, Menezes, M, Compton, AG, Van Bergen, NJ, Gayevskiy, V, Cowley, MJ, Cummings, BB, Adams, L, et al. Cryptic intronic NBAS variant reveals the genetic basis of recurrent liver failure in a child.. Mol Genet Metab 126(1) : 77 -82 2019
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Van Bergen, NJ, Guo, Y, Rankin, J, Paczia, N, Becker-Kettern, J, Kremer, LS, Pyle, A, Conrotte, J-F, Ellaway, C, Procopis, P, et al. NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses.. Brain 142(1) : 50 -58 2019
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Singh, LN, Crowston, JG, Lopez Sanchez, MIG, Van Bergen, NJ, Kearns, LS, Hewitt, AW, Yazar, S, Mackey, DA, Wallace, DC, Trounce, IA. Mitochondrial DNA Variation and Disease Susceptibility in Primary Open-Angle Glaucoma.. Invest Ophthalmol Vis Sci 59(11) : 4598 -4602 2018
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