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Page 1
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: laitt r. 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
Familial unilateral vestibular schwannoma is rarely caused by inherited variants in the NF2 gene.
Evans DG, Wallace AJ, Hartley C, Freeman SR, Lloyd SK, Thomas O, Axon P, Hammerbeck-Ward CL, Pathmanaban O, Rutherford SA, Kellett M, Laitt R, King AT, Bischetsrieder J, Blakeley J, Smith MJ. Evans DG, et al. Among authors: laitt r. Laryngoscope. 2019 Apr;129(4):967-973. doi: 10.1002/lary.27554. Epub 2018 Oct 16. Laryngoscope. 2019. PMID: 30325044 Free PMC article.
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: laitt r. 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: laitt r. 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.
Prevalence and natural history of schwannomas in neurofibromatosis type 2 (NF2): the influence of pathogenic variants.
Moualed D, Wong J, Thomas O, Heal C, Saqib R, Choi C, Lloyd S, Rutherford S, Stapleton E, Hammerbeck-Ward C, Pathmanaban O, Laitt R, Smith M, Wallace A, Kellett M, Evans G, King A, Freeman S. Moualed D, et al. Among authors: laitt r. Eur J Hum Genet. 2022 Apr;30(4):458-464. doi: 10.1038/s41431-021-01029-y. Epub 2022 Jan 24. Eur J Hum Genet. 2022. PMID: 35067678 Free PMC article.
Malignant Peripheral Nerve Sheath Tumors are not a Feature of Neurofibromatosis Type 2 in the Unirradiated Patient.
King AT, Rutherford SA, Hammerbeck-Ward C, Lloyd SK, Freeman SR, Pathmanaban ON, Kellett M, Obholzer R, Afridi S, Axon P, Halliday D, Parry A, Thomas OM, Laitt RD, McCabe MG, Stivaros S, Erridge S, Evans DG; English Specialist NF2 research group. King AT, et al. Among authors: laitt rd. Neurosurgery. 2018 Jul 1;83(1):38-42. doi: 10.1093/neuros/nyx368. Neurosurgery. 2018. PMID: 28973692
Disease course of neurofibromatosis type 2: a 30-year follow-up study of 353 patients seen at a single institution.
Forde C, King AT, Rutherford SA, Hammerbeck-Ward C, Lloyd SK, Freeman SR, Pathmanaban ON, Stapleton E, Thomas OM, Laitt RD, Stivaros S, Kilday JP, Vassallo G, McBain C, Kerrigan S, Smith MJ, McCabe MG, Harkness EF, Evans DG. Forde C, et al. Among authors: laitt rd. Neuro Oncol. 2021 Jul 1;23(7):1113-1124. doi: 10.1093/neuonc/noaa284. Neuro Oncol. 2021. PMID: 33336705 Free PMC article.
65 results