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Schwannomatosis: a genetic and epidemiological study.
Evans DG, Bowers NL, Tobi S, Hartley C, Wallace AJ, King AT, Lloyd SKW, Rutherford SA, Hammerbeck-Ward C, Pathmanaban ON, Freeman SR, Ealing J, Kellett M, Laitt R, Thomas O, Halliday D, Ferner R, Taylor A, Duff C, Harkness EF, Smith MJ. Evans DG, et al. Among authors: bowers nl. J Neurol Neurosurg Psychiatry. 2018 Nov;89(11):1215-1219. doi: 10.1136/jnnp-2018-318538. Epub 2018 Jun 16. J Neurol Neurosurg Psychiatry. 2018. PMID: 29909380
Frequency of SMARCB1 mutations in familial and sporadic schwannomatosis.
Smith MJ, Wallace AJ, Bowers NL, Rustad CF, Woods CG, Leschziner GD, Ferner RE, Evans DG. Smith MJ, et al. Among authors: bowers nl. Neurogenetics. 2012 May;13(2):141-5. doi: 10.1007/s10048-012-0319-8. Epub 2012 Mar 22. Neurogenetics. 2012. PMID: 22434358
Identifying the deficiencies of current diagnostic criteria for neurofibromatosis 2 using databases of 2777 individuals with molecular testing.
Evans DG, King AT, Bowers NL, Tobi S, Wallace AJ, Perry M, Anup R, Lloyd SKL, Rutherford SA, Hammerbeck-Ward C, Pathmanaban ON, Stapleton E, Freeman SR, Kellett M, Halliday D, Parry A, Gair JJ, Axon P, Laitt R, Thomas O, Afridi S, Ferner RE, Harkness EF, Smith MJ; English Specialist NF2 Research Group. Evans DG, et al. Among authors: bowers nl. Genet Med. 2019 Jul;21(7):1525-1533. doi: 10.1038/s41436-018-0384-y. Epub 2018 Dec 7. Genet Med. 2019. PMID: 30523344 Free article.
Incidence of mosaicism in 1055 de novo NF2 cases: much higher than previous estimates with high utility of next-generation sequencing.
Evans DG, Hartley CL, Smith PT, King AT, Bowers NL, Tobi S, Wallace AJ, Perry M, Anup R, Lloyd SKW, Rutherford SA, Hammerbeck-Ward C, Pathmanaban ON, Stapleton E, Freeman SR, Kellett M, Halliday D, Parry A, Gair JJ, Axon P, Laitt R, Thomas O, Afridi SK, Obholzer R; English Specialist NF research group; Duff C, Stivaros SM, Vassallo G, Harkness EF, Smith MJ. Evans DG, et al. Among authors: bowers nl. Genet Med. 2020 Jan;22(1):53-59. doi: 10.1038/s41436-019-0598-7. Epub 2019 Jul 5. Genet Med. 2020. PMID: 31273341 Free article.
Sporadic vestibular schwannoma: a molecular testing summary.
Sadler KV, Bowers NL, Hartley C, Smith PT, Tobi S, Wallace AJ, King A, Lloyd SKW, Rutherford S, Pathmanaban ON, Hammerbeck-Ward C, Freeman S, Stapleton E, Taylor A, Shaw A, Halliday D, Smith MJ, Evans DG. Sadler KV, et al. Among authors: bowers nl. J Med Genet. 2021 Apr;58(4):227-233. doi: 10.1136/jmedgenet-2020-107022. Epub 2020 Jun 23. J Med Genet. 2021. PMID: 32576656
Screening of potential novel candidate genes in schwannomatosis patients.
Perez-Becerril C, Wallace AJ, Schlecht H, Bowers NL, Smith PT, Gokhale C, Eaton H, Charlton C, Robinson R, Charlton RS, Evans DG, Smith MJ. Perez-Becerril C, et al. Among authors: bowers nl. Hum Mutat. 2022 Oct;43(10):1368-1376. doi: 10.1002/humu.24424. Epub 2022 Jun 27. Hum Mutat. 2022. PMID: 35723634 Free PMC article.
68 results