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A LINE-1 mediated deletion resulting in germline retinoblastoma predisposition.
Macke EL, Miller AR, Stonerock E, Olshefski R, Zajo K, Bedrosian TA, Mardis ER, Akkari YMN, Cottrell CE, Schieffer KM. Macke EL, et al. Among authors: mardis er. Neurooncol Adv. 2023 Dec 10;6(1):vdad163. doi: 10.1093/noajnl/vdad163. eCollection 2024 Jan-Dec. Neurooncol Adv. 2023. PMID: 38213835 Free PMC article.
A novel IKZF1 variant in a family with autosomal dominant CVID: A case for expanding exon coverage in inborn errors of immunity.
Stojkic I, Prince BT, Kuehn HS, Gil Silva AA, Varga EA, Rosenzweig SD, Ramadesikan S, Supinger R, Marhabaie M, Chang P, Mardis ER, Koboldt DC. Stojkic I, et al. Among authors: mardis er. Clin Immunol. 2024 May 9;264:110244. doi: 10.1016/j.clim.2024.110244. Online ahead of print. Clin Immunol. 2024. PMID: 38734037 Free article.
Oncolytic virus-driven immune remodeling revealed in mouse medulloblastomas at single cell resolution.
Hedberg J, Studebaker A, Smith L, Chen CY, Westfall JJ, Cam M, Gross A, Hernandez-Aguirre I, Martin A, Kim D, Dhital R, Kim Y, Roberts RD, Cripe TP, Mardis ER, Cassady KA, Leonard J, Miller KE. Hedberg J, et al. Among authors: mardis er. Mol Ther Oncolytics. 2023 Jul 19;30:39-55. doi: 10.1016/j.omto.2023.07.006. eCollection 2023 Sep 21. Mol Ther Oncolytics. 2023. PMID: 37583388 Free PMC article.
SNVstory: inferring genetic ancestry from genome sequencing data.
Bollas AE, Rajkovic A, Ceyhan D, Gaither JB, Mardis ER, White P. Bollas AE, et al. Among authors: mardis er. BMC Bioinformatics. 2024 Feb 20;25(1):76. doi: 10.1186/s12859-024-05703-y. BMC Bioinformatics. 2024. PMID: 38378494 Free PMC article.
486 results