photo of Marzena Walkiewicz

Marzena Walkiewicz

Marzena Walkiewicz

Details

Role Research Assistant
Research area Stem Cell Medicine
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Top Publications

  • Helman, G, Compton, AG, Hock, DH, Walkiewicz, M, MGenCouns, GRB, Pais, L, Tan, TY, De Paoli-Iseppi, R, Clark, MB, Christodoulou, J, et al. RNA sequencing identifies a cryptic exon caused by a deep intronic variant in NDUFB10 resulting in isolated Complex I deficiency. 2020.05.21.20104265 2024
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  • Helman, G, Takanohashi, A, Hagemann, TL, Perng, MD, Walkiewicz, M, Woidill, S, Sase, S, Cross, Z, Du, Y, Zhao, L, et al. Type II Alexander disease caused by splicing errors and aberrant overexpression of an uncharacterized GFAP isoform. 842229 2024
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  • Helman, G, Takanohashi, A, Hagemann, TL, Perng, MD, Walkiewicz, M, Woidill, S, Sase, S, Cross, Z, Du, Y, Zhao, L, et al. Type II Alexander disease caused by splicing errors and aberrant overexpression of an uncharacterized GFAP isoform. Human Mutation 43(9) : 1344 -1344 2022
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  • Van Bergen, NJ, Bell, KM, Carey, K, Gear, R, Massey, S, Murrell, EK, Gallacher, L, Pope, K, Lockhart, PJ, Kornberg, A, et al. Pathogenic variants in nucleoporin TPR (translocated promoter region, nuclear basket protein) cause severe intellectual disability in humans. Human Molecular Genetics 31(3) : 362 -375 2022
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  • Richardson, ZA, Deleage, C, Tutuka, CSA, Walkiewicz, M, Del Río-Estrada, PM, Pascoe, RD, Evans, VA, Reyesteran, G, Gonzales, M, Roberts-Thomson, S, et al. Multiparameter immunohistochemistry analysis of HIV DNA, RNA and immune checkpoints in lymph node tissue. Journal of Immunological Methods 501: 113198 2022
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