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Functional analysis and clinical classification of 462 germline BRCA2 missense variants affecting the DNA binding domain.
Hu C, Huang H, Na J, Lumby C, Abozaid M, Holdren MA, Rao TJ, Karam R, Pesaran T, Weyandt JD, Csuy CM, Seelaus CA, Young CC, Fulk K, Heidari Z, Morais Lyra PC Jr, Couch RE, Persons B, Polley EC, Gnanaolivu RD, Boddicker NJ, Monteiro ANA, Yadav S, Domchek SM, Richardson ME, Couch FJ. Hu C, et al. Among authors: lumby c. Am J Hum Genet. 2024 Mar 7;111(3):584-593. doi: 10.1016/j.ajhg.2024.02.002. Epub 2024 Feb 27. Am J Hum Genet. 2024. PMID: 38417439
Functional and Clinical Characterization of Variants of Uncertain Significance Identifies a Hotspot for Inactivating Missense Variants in RAD51C.
Hu C, Nagaraj AB, Shimelis H, Montalban G, Lee KY, Huang H, Lumby CA, Na J, Susswein LR, Roberts ME, Marshall ML, Hiraki S, LaDuca H, Chao E, Yussuf A, Pesaran T, Neuhausen SL, Haiman CA, Kraft P, Lindstrom S, Palmer JR, Teras LR, Vachon CM, Yao S, Ong I, Nathanson KL, Weitzel JN, Boddicker N, Gnanaolivu R, Polley EC, Mer G, Cui G, Karam R, Richardson ME, Domchek SM, Yadav S, Hruska KS, Dolinsky J, Weroha SJ, Hart SN, Simard J, Masson JY, Pang YP, Couch FJ. Hu C, et al. Among authors: lumby ca. Cancer Res. 2023 Aug 1;83(15):2557-2571. doi: 10.1158/0008-5472.CAN-22-2319. Cancer Res. 2023. PMID: 37253112 Free PMC article.
Simultaneous sequencing of genetic and epigenetic bases in DNA.
Füllgrabe J, Gosal WS, Creed P, Liu S, Lumby CK, Morley DJ, Ost TWB, Vilella AJ, Yu S, Bignell H, Burns P, Charlesworth T, Fu B, Fordham H, Harding NJ, Gandelman O, Golder P, Hodson C, Li M, Lila M, Liu Y, Mason J, Mellad J, Monahan JM, Nentwich O, Palmer A, Steward M, Taipale M, Vandomme A, San-Bento RS, Singhal A, Vivian J, Wójtowicz N, Williams N, Walker NJ, Wong NCH, Yalloway GN, Holbrook JD, Balasubramanian S. Füllgrabe J, et al. Among authors: lumby ck. Nat Biotechnol. 2023 Oct;41(10):1457-1464. doi: 10.1038/s41587-022-01652-0. Epub 2023 Feb 6. Nat Biotechnol. 2023. PMID: 36747096 Free PMC article.
Hydroxymethylation profile of cell-free DNA is a biomarker for early colorectal cancer.
Walker NJ, Rashid M, Yu S, Bignell H, Lumby CK, Livi CM, Howell K, Morley DJ, Morganella S, Barrell D, Caim S, Gosal W, Füllgrabe J, Charlesworth TJ, Vasquez L, Ahdesmäki M, Eizenga J, Prabhat P, Proutski V, Murat-Onana ML, Greenwood CJ, Kirkwood L, Maisuria-Armer M, Li M, Coats E, Winfield V, MacBean L, Stock T, Tomé-Fernandez A, Chan Y, Sheikh N, Golder P, Steward M, Ost TWB, Stewart D, Vilella A, Noursalehi M, Paten B, Lucarelli D, Mason J, Ridge G, Mellad J, Shirodkar S, Balasubaramanian S, Holbrook JD. Walker NJ, et al. Among authors: lumby ck. Sci Rep. 2022 Oct 4;12(1):16566. doi: 10.1038/s41598-022-20975-1. Sci Rep. 2022. PMID: 36195648 Free PMC article.
Co-creating safe spaces: Study protocol for translational research on innovative alternatives to the emergency department for people experiencing emotional distress and/or suicidal crisis.
Banfield M, Fitzpatrick SJ, Lamb H, Giugni M, Calear AL, Stewart E, Pavloudis M, Ellen L, Sargent G, Skeat H, Edwards B, Miller B, Gulliver A, Ellis LA, Bliokas V, Goj P, Lee M, Stewart K, Webb G, Main M, Lumby C, Wells K, McKay C, Batterham PJ, Morse AR, Shand F; Stride Safe Space Team. Banfield M, et al. Among authors: lumby c. PLoS One. 2022 Oct 3;17(10):e0272483. doi: 10.1371/journal.pone.0272483. eCollection 2022. PLoS One. 2022. PMID: 36190989 Free PMC article.
13 results