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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: evans dg. 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.
Isolated unilateral vestibular schwannomas do not harbor HRAS mutations.
Smith MJ, Hadfield KD, Ramsden RT, Rutherford SA, King AT, Newman WG, Evans DG. Smith MJ, et al. Among authors: evans dg. Am J Med Genet A. 2010 Jun;152A(6):1586-7. doi: 10.1002/ajmg.a.33409. Am J Med Genet A. 2010. PMID: 20503341 No abstract available.
Update from the 2011 International Schwannomatosis Workshop: From genetics to diagnostic criteria.
Plotkin SR, Blakeley JO, Evans DG, Hanemann CO, Hulsebos TJ, Hunter-Schaedle K, Kalpana GV, Korf B, Messiaen L, Papi L, Ratner N, Sherman LS, Smith MJ, Stemmer-Rachamimov AO, Vitte J, Giovannini M. Plotkin SR, et al. Among authors: evans dg. Am J Med Genet A. 2013 Mar;161A(3):405-16. doi: 10.1002/ajmg.a.35760. Epub 2013 Feb 7. Am J Med Genet A. 2013. PMID: 23401320 Free PMC article.
Intronic splicing mutations in PTCH1 cause Gorlin syndrome.
Bholah Z, Smith MJ, Byers HJ, Miles EK, Evans DG, Newman WG. Bholah Z, et al. Among authors: evans dg. Fam Cancer. 2014 Sep;13(3):477-80. doi: 10.1007/s10689-014-9712-9. Fam Cancer. 2014. PMID: 24659465
Germline SMARCE1 mutations predispose to both spinal and cranial clear cell meningiomas.
Smith MJ, Wallace AJ, Bennett C, Hasselblatt M, Elert-Dobkowska E, Evans LT, Hickey WF, van Hoff J, Bauer D, Lee A, Hevner RF, Beetz C, du Plessis D, Kilday JP, Newman WG, Evans DG. Smith MJ, et al. Among authors: evans dg, evans lt. J Pathol. 2014 Dec;234(4):436-40. doi: 10.1002/path.4427. Epub 2014 Oct 6. J Pathol. 2014. PMID: 25143307
1,362 results