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The ClinGen Brain Malformation Variant Curation Expert Panel: Rules for somatic variants in AKT3, MTOR, PIK3CA, and PIK3R2.
Lai A, Soucy A, El Achkar CM, Barkovich AJ, Cao Y, DiStefano M, Evenson M, Guerrini R, Knight D, Lee YS, Mefford HC, Miller DT, Mirzaa G, Mochida G, Rodan LH, Patel M, Smith L, Spencer S, Walsh CA, Yang E, Yuskaitis CJ, Yu T, Poduri A; ClinGen Brain Malformation Variant Curation Expert Panel. Lai A, et al. Among authors: evenson m. Genet Med. 2022 Nov;24(11):2240-2248. doi: 10.1016/j.gim.2022.07.020. Epub 2022 Aug 23. Genet Med. 2022. PMID: 35997716 Free PMC article.
Somatic PIK3R1 variation as a cause of vascular malformations and overgrowth.
Cottrell CE, Bender NR, Zimmermann MT, Heusel JW, Corliss M, Evenson MJ, Magrini V, Corsmeier DJ, Avenarius M, Dudley JN, Johnston JJ, Lindhurst MJ, Vigh-Conrad K, Davies OMT, Coughlin CC, Frieden IJ, Tollefson M, Zaenglein AL, Ciliberto H, Tosi LL, Semple RK, Biesecker LG, Drolet BA. Cottrell CE, et al. Among authors: evenson mj. Genet Med. 2021 Oct;23(10):1882-1888. doi: 10.1038/s41436-021-01211-z. Epub 2021 May 26. Genet Med. 2021. PMID: 34040190 Free PMC article.
A comparative analysis of RAS variants in patients with disorders of somatic mosaicism.
Claire Hou YC, Evenson MJ, Corliss MM, Mahapatra L, Aldawood A, Carpentieri DF, Chamlin SL, Kulungowski AM, Madan-Khetarpal S, Sebastian J, Pet MA, Coughlin CC, Willing MC, Pearson GD, Setty BA, El-Haffaf Z, Cottrell CE, Parikh BA, Krysiak K, Schroeder MC, Heusel JW, Neidich JA, Cao Y. Claire Hou YC, et al. Among authors: evenson mj. Genet Med. 2023 Mar;25(3):100348. doi: 10.1016/j.gim.2022.11.016. Epub 2022 Dec 7. Genet Med. 2023. PMID: 36571464 Free article.
Comparison of gene fusion detection methods in salivary gland tumors.
Sun L, Petrone JS, McNulty SN, Evenson MJ, Zhu X, Robinson JA, Chernock RD, Duncavage EJ, Pfeifer JD. Sun L, et al. Among authors: evenson mj. Hum Pathol. 2022 May;123:1-10. doi: 10.1016/j.humpath.2022.02.002. Epub 2022 Feb 17. Hum Pathol. 2022. PMID: 35183572
87 results