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NF2-related schwannomatosis and other schwannomatosis: an updated genetic and epidemiological study.
Forde C, Smith MJ, Burghel GJ, Bowers N, Roberts N, Lavin T, Halliday J, King AT, Rutherford S, Pathmanaban ON, Lloyd S, Freeman S, Halliday D, Parry A, Axon P, Buttimore J, Afridi S, Obholzer R, Laitt R, Thomas O, Stivaros SM, Vassallo G, Evans DG. Forde C, et al. Among authors: roberts n. J Med Genet. 2024 Aug 29;61(9):856-860. doi: 10.1136/jmg-2024-110065. J Med Genet. 2024. PMID: 38925914
Re-evaluation of missense variant classifications in NF2.
Sadler KV, Rowlands CF, Smith PT, Hartley CL, Bowers NL, Roberts NY, Harris JL, Wallace AJ, Evans DG, Messiaen LM, Smith MJ. Sadler KV, et al. Hum Mutat. 2022 May;43(5):643-654. doi: 10.1002/humu.24370. Epub 2022 Apr 2. Hum Mutat. 2022. PMID: 35332608 Free PMC article.
Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants.
Loong L, Cubuk C, Choi S, Allen S, Torr B, Garrett A, Loveday C, Durkie M, Callaway A, Burghel GJ, Drummond J, Robinson R, Berry IR, Wallace A, Eccles DM, Tischkowitz M, Ellard S, Ware JS, Hanson H, Turnbull C; CanVIG-UK. Loong L, et al. Genet Med. 2022 Mar;24(3):552-563. doi: 10.1016/j.gim.2021.11.011. Epub 2021 Nov 18. Genet Med. 2022. PMID: 34906453 Free PMC article.
Islands of genomic stability in the face of genetically unstable metastatic cancer.
Bowland K, Lai J, Skaist A, Zhang Y, Teh SSK, Roberts NJ, Thompson E, Wheelan SJ, Hruban RH, Karchin R, Bailey MH, Iacobuzio-Donahue CA, Eshleman JR. Bowland K, et al. Among authors: roberts nj. PLoS One. 2024 Dec 19;19(12):e0298490. doi: 10.1371/journal.pone.0298490. eCollection 2024. PLoS One. 2024. PMID: 39700179 Free PMC article.
Tumor- and host-derived heparanase-2 (Hpa2) attenuates tumorigenicity: role of Hpa2 in macrophage polarization and BRD7 nuclear localization.
Soboh S, Vorontsova A, Farhoud M, Barash U, Naroditsky I, Gross-Cohen M, Weissmann M, Yasuhiko N, Woolf AS, Roberts NA, Shaked Y, Ilan N, Vlodavsky I. Soboh S, et al. Among authors: roberts na. Cell Death Dis. 2024 Dec 18;15(12):894. doi: 10.1038/s41419-024-07262-9. Cell Death Dis. 2024. PMID: 39695102 Free PMC article.
2,117 results