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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.
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.
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.