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Long-read single-molecule maps of the functional methylome.
Sharim H, Grunwald A, Gabrieli T, Michaeli Y, Margalit S, Torchinsky D, Arielly R, Nifker G, Juhasz M, Gularek F, Almalvez M, Dufault B, Chandra SS, Liu A, Bhattacharya S, Chen YW, Vilain E, Wagner KR, Pevsner J, Reifenberger J, Lam ET, Hastie AR, Cao H, Barseghyan H, Weinhold E, Ebenstein Y. Sharim H, et al. Among authors: almalvez m. Genome Res. 2019 Apr;29(4):646-656. doi: 10.1101/gr.240739.118. Epub 2019 Mar 7. Genome Res. 2019. PMID: 30846530 Free PMC article.
Optical genome mapping identifies a novel pediatric embryonal tumor with a ZNF532::NUTM1 fusion.
Bornhorst M, Eze A Jr, Bhattacharya S, Putnam E, Almira-Suarez MI, Rossi C, Kambhampati M, Almalvez M, Barseghyan M, Del Risco N, Dotson D, Turner J, Myseros JS, Vilain E, Packer RJ, Nazarian J, Rood B, Barseghyan H. Bornhorst M, et al. Among authors: almalvez m. J Pathol. 2023 Jul;260(3):329-338. doi: 10.1002/path.6085. Epub 2023 May 19. J Pathol. 2023. PMID: 37203791 Free PMC article.
Genome sequencing reveals the impact of non-canonical exon inclusions in rare genetic disease.
Pitsava G, Hawley M, Auriga L, de Dios I, Ko A, Marmolejos S, Almalvez M, Chen I, Scozzaro K, Zhao J, Barrick R, Mew NA, Fusaro VA, LoTempio J, Taylor M, Mestroni L, Graw S, Milewicz D, Guo D, Murdock DR, Bujakowska KM; UCI-GREGoR Consortium; Xiao C, Délot EC, Berger SI, Vilain E. Pitsava G, et al. Among authors: almalvez m. medRxiv [Preprint]. 2024 Dec 26:2024.12.21.24318325. doi: 10.1101/2024.12.21.24318325. medRxiv. 2024. PMID: 39763557 Free PMC article. Preprint.