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Page 1
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.
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.
Beyond the exome: What's next in diagnostic testing for Mendelian conditions.
Wojcik MH, Reuter CM, Marwaha S, Mahmoud M, Duyzend MH, Barseghyan H, Yuan B, Boone PM, Groopman EE, Délot EC, Jain D, Sanchis-Juan A; Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium; Starita LM, Talkowski M, Montgomery SB, Bamshad MJ, Chong JX, Wheeler MT, Berger SI, O'Donnell-Luria A, Sedlazeck FJ, Miller DE. Wojcik MH, et al. Am J Hum Genet. 2023 Aug 3;110(8):1229-1248. doi: 10.1016/j.ajhg.2023.06.009. Am J Hum Genet. 2023. PMID: 37541186 Free PMC article. Review.