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114 results

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Pathogenic variants in nucleoporin TPR (translocated promoter region, nuclear basket protein) cause severe intellectual disability in humans.
Van Bergen NJ, Bell KM, Carey K, Gear R, Massey S, Murrell EK, Gallacher L, Pope K, Lockhart PJ, Kornberg A, Pais L, Walkiewicz M, Simons C; MCRI Rare Diseases Flagship; Wickramasinghe VO, White SM, Christodoulou J. Van Bergen NJ, et al. Among authors: walkiewicz m. Hum Mol Genet. 2022 Feb 3;31(3):362-375. doi: 10.1093/hmg/ddab248. Hum Mol Genet. 2022. PMID: 34494102 Free PMC article.
Aberrant splicing and transcriptional activity of TPP1 result in CLN2-like disorder.
Helman G, Taylor LE, Walkiewicz M, Le Moing M, Eggers S, Yaplito-Lee J, Fuller M, Dabscheck G, Rodriguez-Casero V, White SM, Simons C. Helman G, et al. Among authors: walkiewicz m. Eur J Med Genet. 2021 Aug;64(8):104259. doi: 10.1016/j.ejmg.2021.104259. Epub 2021 Jun 11. Eur J Med Genet. 2021. PMID: 34126256
Type II Alexander disease caused by splicing errors and aberrant overexpression of an uncharacterized GFAP isoform.
Helman G, Takanohashi A, Hagemann TL, Perng MD, Walkiewicz M, Woidill S, Sase S, Cross Z, Du Y, Zhao L, Waldman A, Haake BC, Fatemi A, Brenner M, Sherbini O, Messing A, Vanderver A, Simons C. Helman G, et al. Among authors: walkiewicz m. Hum Mutat. 2020 Jun;41(6):1131-1137. doi: 10.1002/humu.24008. Epub 2020 Mar 11. Hum Mutat. 2020. PMID: 32126152 Free PMC article.
Type II Alexander disease caused by splicing errors and aberrant overexpression of an uncharacterized GFAP isoform.
Helman G, Takanohashi A, Hagemann TL, Perng MD, Walkiewicz M, Woidill S, Sase S, Cross Z, Du Y, Zhao L, Waldman A, Haake BC, Fatemi A, Brenner M, Sherbini O, Messing A, Vanderver A, Simons C. Helman G, et al. Among authors: walkiewicz m. Hum Mutat. 2022 Sep;43(9):1344. doi: 10.1002/humu.24400. Hum Mutat. 2022. PMID: 35920398 No abstract available.
Genome sequencing in persistently unsolved white matter disorders.
Helman G, Lajoie BR, Crawford J, Takanohashi A, Walkiewicz M, Dolzhenko E, Gross AM, Gainullin VG, Bent SJ, Jenkinson EM, Ferdinandusse S, Waterham HR, Dorboz I, Bertini E, Miyake N, Wolf NI, Abbink TEM, Kirwin SM, Tan CM, Hobson GM, Guo L, Ikegawa S, Pizzino A, Schmidt JL, Bernard G, Schiffmann R, van der Knaap MS, Simons C, Taft RJ, Vanderver A. Helman G, et al. Among authors: walkiewicz m. Ann Clin Transl Neurol. 2020 Jan;7(1):144-152. doi: 10.1002/acn3.50957. Epub 2020 Jan 7. Ann Clin Transl Neurol. 2020. PMID: 31912665 Free PMC article.
Mesenchyme to epithelial transition protein expression, gene copy number and clinical outcome in a large non-small cell lung cancer surgical cohort.
Rivalland G, Mitchell P, Murone C, Asadi K, Morey AL, Starmans M, Boutros PC, Walkiewicz M, Solomon B, Wright G, Knight S, John T. Rivalland G, et al. Among authors: walkiewicz m. Transl Lung Cancer Res. 2019 Apr;8(2):167-175. doi: 10.21037/tlcr.2019.03.11. Transl Lung Cancer Res. 2019. PMID: 31106127 Free PMC article.
Correlation of mutation status and survival with predominant histologic subtype according to the new IASLC/ATS/ERS lung adenocarcinoma classification in stage III (N2) patients.
Russell PA, Barnett SA, Walkiewicz M, Wainer Z, Conron M, Wright GM, Gooi J, Knight S, Wynne R, Liew D, John T. Russell PA, et al. Among authors: walkiewicz m. J Thorac Oncol. 2013 Apr;8(4):461-8. doi: 10.1097/JTO.0b013e3182828fb8. J Thorac Oncol. 2013. PMID: 23486266 Free article.
114 results