-
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..
Hum Mutat
43(9)
:
1344
2022
view publication
-
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..
Hum Mol Genet
31(3)
:
362 -375
2022
view publication
-
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..
J Immunol Methods
501:
113198
2022
view publication
-
Helman, G, Taylor, LE, Walkiewicz, M, Le Moing, M, Eggers, S, Yaplito-Lee, J, Fuller, M, Dabscheck, G, Rodriguez-Casero, V, White, SM, et al.
Aberrant splicing and transcriptional activity of TPP1 result in CLN2-like disorder..
Eur J Med Genet
64(8)
:
104259
2021
view publication
-
Helman, G, Compton, AG, Hock, DH, Walkiewicz, M, Brett, GR, Pais, L, Tan, TY, De Paoli-Iseppi, R, Clark, MB, Christodoulou, J, et al.
Multiomic analysis elucidates Complex I deficiency caused by a deep intronic variant in NDUFB10..
Hum Mutat
42(1)
:
19 -24
2021
view publication