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Year Number of Results
2017 2
2018 1
2019 2
2020 7
2021 1
2022 2
2023 1
2024 0

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14 results

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Page 1
Proteogenomic Characterization of Endometrial Carcinoma.
Dou Y, Kawaler EA, Cui Zhou D, Gritsenko MA, Huang C, Blumenberg L, Karpova A, Petyuk VA, Savage SR, Satpathy S, Liu W, Wu Y, Tsai CF, Wen B, Li Z, Cao S, Moon J, Shi Z, Cornwell M, Wyczalkowski MA, Chu RK, Vasaikar S, Zhou H, Gao Q, Moore RJ, Li K, Sethuraman S, Monroe ME, Zhao R, Heiman D, Krug K, Clauser K, Kothadia R, Maruvka Y, Pico AR, Oliphant AE, Hoskins EL, Pugh SL, Beecroft SJI, Adams DW, Jarman JC, Kong A, Chang HY, Reva B, Liao Y, Rykunov D, Colaprico A, Chen XS, Czekański A, Jędryka M, Matkowski R, Wiznerowicz M, Hiltke T, Boja E, Kinsinger CR, Mesri M, Robles AI, Rodriguez H, Mutch D, Fuh K, Ellis MJ, DeLair D, Thiagarajan M, Mani DR, Getz G, Noble M, Nesvizhskii AI, Wang P, Anderson ML, Levine DA, Smith RD, Payne SH, Ruggles KV, Rodland KD, Ding L, Zhang B, Liu T, Fenyö D; Clinical Proteomic Tumor Analysis Consortium. Dou Y, et al. Among authors: beecroft sji. Cell. 2020 Feb 20;180(4):729-748.e26. doi: 10.1016/j.cell.2020.01.026. Epub 2020 Feb 13. Cell. 2020. PMID: 32059776 Free PMC article.
Genetics of neuromuscular fetal akinesia in the genomics era.
Beecroft SJ, Lombard M, Mowat D, McLean C, Cairns A, Davis M, Laing NG, Ravenscroft G. Beecroft SJ, et al. J Med Genet. 2018 Aug;55(8):505-514. doi: 10.1136/jmedgenet-2018-105266. Epub 2018 Jun 29. J Med Genet. 2018. PMID: 29959180 Review.
Loss of function variants in DNAJB4 cause a myopathy with early respiratory failure.
Weihl CC, Töpf A, Bengoechea R, Duff J, Charlton R, Garcia SK, Domínguez-González C, Alsaman A, Hernández-Laín A, Franco LV, Sanchez MEP, Beecroft SJ, Goullee H, Daw J, Bhadra A, True H, Inoue M, Findlay AR, Laing N, Olivé M, Ravenscroft G, Straub V. Weihl CC, et al. Among authors: beecroft sj. Acta Neuropathol. 2023 Jan;145(1):127-143. doi: 10.1007/s00401-022-02510-8. Epub 2022 Oct 20. Acta Neuropathol. 2023. PMID: 36264506 Free PMC article.
Recessive MYH7-related myopathy in two families.
Beecroft SJ, van de Locht M, de Winter JM, Ottenheijm CA, Sewry CA, Mohammed S, Ryan MM, Woodcock IR, Sanders L, Gooding R, Davis MR, Oates EC, Laing NG, Ravenscroft G, McLean CA, Jungbluth H. Beecroft SJ, et al. Neuromuscul Disord. 2019 Jun;29(6):456-467. doi: 10.1016/j.nmd.2019.04.002. Epub 2019 Apr 12. Neuromuscul Disord. 2019. PMID: 31130376
Cylindrical spirals in two families: Clinical and genetic investigations.
Beecroft SJ, Olive M, Quereda LG, Gallano P, Ojanguren I, McLean C, McCombe P, Laing NG, Ravenscroft G. Beecroft SJ, et al. Neuromuscul Disord. 2020 Feb;30(2):151-158. doi: 10.1016/j.nmd.2019.12.006. Epub 2019 Dec 25. Neuromuscul Disord. 2020. PMID: 31952901
Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion.
Cortese A, Tozza S, Yau WY, Rossi S, Beecroft SJ, Jaunmuktane Z, Dyer Z, Ravenscroft G, Lamont PJ, Mossman S, Chancellor A, Maisonobe T, Pereon Y, Cauquil C, Colnaghi S, Mallucci G, Curro R, Tomaselli PJ, Thomas-Black G, Sullivan R, Efthymiou S, Rossor AM, Laurá M, Pipis M, Horga A, Polke J, Kaski D, Horvath R, Chinnery PF, Marques W, Tassorelli C, Devigili G, Leonardis L, Wood NW, Bronstein A, Giunti P, Züchner S, Stojkovic T, Laing N, Roxburgh RH, Houlden H, Reilly MM. Cortese A, et al. Among authors: beecroft sj. Brain. 2020 Feb 1;143(2):480-490. doi: 10.1093/brain/awz418. Brain. 2020. PMID: 32040566 Free PMC article.
Expanding the phenotypic spectrum associated with mutations of DYNC1H1.
Beecroft SJ, McLean CA, Delatycki MB, Koshy K, Yiu E, Haliloglu G, Orhan D, Lamont PJ, Davis MR, Laing NG, Ravenscroft G. Beecroft SJ, et al. Neuromuscul Disord. 2017 Jul;27(7):607-615. doi: 10.1016/j.nmd.2017.04.011. Epub 2017 May 5. Neuromuscul Disord. 2017. PMID: 28554554
Targeted gene panel use in 2249 neuromuscular patients: the Australasian referral center experience.
Beecroft SJ, Yau KS, Allcock RJN, Mina K, Gooding R, Faiz F, Atkinson VJ, Wise C, Sivadorai P, Trajanoski D, Kresoje N, Ong R, Duff RM, Cabrera-Serrano M, Nowak KJ, Pachter N, Ravenscroft G, Lamont PJ, Davis MR, Laing NG. Beecroft SJ, et al. Ann Clin Transl Neurol. 2020 Mar;7(3):353-362. doi: 10.1002/acn3.51002. Epub 2020 Mar 9. Ann Clin Transl Neurol. 2020. PMID: 32153140 Free PMC article.
14 results