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Page 1
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. 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.
Typical 22q11.2 deletion syndrome appears to confer a reduced risk of schwannoma.
Evans DG, Messiaen LM, Foulkes WD, Irving REA, Murray AJ, Perez-Becerril C, Rivera B, McDonald-McGinn DM, Stevenson DA, Smith MJ. Evans DG, et al. Among authors: perez becerril c. Genet Med. 2021 Sep;23(9):1779-1782. doi: 10.1038/s41436-021-01175-0. Epub 2021 Apr 20. Genet Med. 2021. PMID: 33879870 Free PMC article.
Genetic findings in people with schwannomas who do not meet clinical diagnostic criteria for NF2-related schwannomatosis.
Smith MJ, Perez-Becerril C, van der Meer M, Burghel GJ, Waller SJ, Carney M, Bunstone S, Fryer K, Bowers NL, Hartley CL, Smith PT, Rutherford SA, Freeman SR, Lloyd SKW, Pathmanaban ON, King AT, Halliday D, Duff C, Evans DG. Smith MJ, et al. Among authors: perez becerril c. J Med Genet. 2024 Oct 23;61(11):1011-1015. doi: 10.1136/jmg-2024-110217. J Med Genet. 2024. PMID: 39209702
The impact of inversions across 33,924 families with rare disease from a national genome sequencing project.
Pagnamenta AT, Yu J, Walker S, Noble AJ, Lord J, Dutta P, Hashim M, Camps C, Green H, Devaiah S, Nashef L, Parr J, Fratter C, Ibnouf Hussein R, Lindsay SJ, Lalloo F, Banos-Pinero B, Evans D, Mallin L, Waite A, Evans J, Newman A, Allen Z, Perez-Becerril C, Ryan G, Hart R, Taylor J, Bedenham T, Clement E, Blair E, Hay E, Forzano F, Higgs J, Canham N, Majumdar A, McEntagart M, Lahiri N, Stewart H, Smithson S, Calpena E, Jackson A, Banka S, Titheradge H, McGowan R, Rankin J, Shaw-Smith C, Evans DG, Burghel GJ, Smith MJ, Anderson E, Madhu R, Firth H, Ellard S, Brennan P, Anderson C, Taupin D, Rogers MT, Cook JA, Durkie M, East JE, Fowler D, Wilson L, Igbokwe R, Gardham A, Tomlinson I, Baralle D, Uhlig HH, Taylor JC. Pagnamenta AT, et al. Among authors: perez becerril c. Am J Hum Genet. 2024 Jun 6;111(6):1140-1164. doi: 10.1016/j.ajhg.2024.04.018. Epub 2024 May 21. Am J Hum Genet. 2024. PMID: 38776926 Free PMC article.
Genome-wide association analysis identifies a susceptibility locus for sporadic vestibular schwannoma at 9p21.
Sadler KV, Bowes J, Rowlands CF, Perez-Becerril C, van der Meer CM, King AT, Rutherford SA, Pathmanaban ON, Hammerbeck-Ward C, Lloyd SKW, Freeman SR, Williams R, Hannan CJ, Lewis D, Eyre S, Evans DG, Smith MJ. Sadler KV, et al. Among authors: perez becerril c. Brain. 2023 Jul 3;146(7):2861-2868. doi: 10.1093/brain/awac478. Brain. 2023. PMID: 36546557 Free PMC article.