Details

Role Team Leader / Senior Research Fellow

Research area Genomic Medicine

Group Brain and Mitochondrial

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Available for student supervision

Dong, X, Tan, NB, Howell, KB, Barresi, S, Freeman, JL, Vecchio, D, Piccione, M, Radio, FC, Calame, D, Zong, S, et al. Bi-allelic LoF NRROS Variants Impairing Active TGF-β1 Delivery Cause a Severe Infantile-Onset Neurodegenerative Condition with Intracranial Calcification.. Am J Hum Genet 106(4) : 559 -569 2020
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Van Bergen, NJ, Christodoulou, J. Reply: Recurrent bi-allelic splicing variant c.454+3A>G in TRAPPC4 is associated with progressive encephalopathy and muscle involvement.. Brain 143(4) : e30 2020
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Van Bergen, NJ, Guo, Y, Al-Deri, N, Lipatova, Z, Stanga, D, Zhao, S, Murtazina, R, Gyurkovska, V, Pehlivan, D, Mitani, T, et al. Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability.. Brain 143(1) : 112 -130 2020
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Kaur, S, Van Bergen, NJ, Gold, WA, Eggers, S, Lunke, S, White, SM, Ellaway, C, Christodoulou, J. Whole exome sequencing reveals a de novo missense variant in EEF1A2 in a Rett syndrome-like patient.. Clin Case Rep 7(12) : 2476 -2482 2019
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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.. J Clin Med 8(11) : 2019
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