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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: pevsner j. 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.
Comprehensive identification of somatic nucleotide variants in human brain tissue.
Wang Y, Bae T, Thorpe J, Sherman MA, Jones AG, Cho S, Daily K, Dou Y, Ganz J, Galor A, Lobon I, Pattni R, Rosenbluh C, Tomasi S, Tomasini L, Yang X, Zhou B, Akbarian S, Ball LL, Bizzotto S, Emery SB, Doan R, Fasching L, Jang Y, Juan D, Lizano E, Luquette LJ, Moldovan JB, Narurkar R, Oetjens MT, Rodin RE, Sekar S, Shin JH, Soriano E, Straub RE, Zhou W, Chess A, Gleeson JG, Marquès-Bonet T, Park PJ, Peters MA, Pevsner J, Walsh CA, Weinberger DR; Brain Somatic Mosaicism Network; Vaccarino FM, Moran JV, Urban AE, Kidd JM, Mills RE, Abyzov A. Wang Y, et al. Among authors: pevsner j. Genome Biol. 2021 Mar 29;22(1):92. doi: 10.1186/s13059-021-02285-3. Genome Biol. 2021. PMID: 33781308 Free PMC article.
Development of human protein reference database as an initial platform for approaching systems biology in humans.
Peri S, Navarro JD, Amanchy R, Kristiansen TZ, Jonnalagadda CK, Surendranath V, Niranjan V, Muthusamy B, Gandhi TK, Gronborg M, Ibarrola N, Deshpande N, Shanker K, Shivashankar HN, Rashmi BP, Ramya MA, Zhao Z, Chandrika KN, Padma N, Harsha HC, Yatish AJ, Kavitha MP, Menezes M, Choudhury DR, Suresh S, Ghosh N, Saravana R, Chandran S, Krishna S, Joy M, Anand SK, Madavan V, Joseph A, Wong GW, Schiemann WP, Constantinescu SN, Huang L, Khosravi-Far R, Steen H, Tewari M, Ghaffari S, Blobe GC, Dang CV, Garcia JG, Pevsner J, Jensen ON, Roepstorff P, Deshpande KS, Chinnaiyan AM, Hamosh A, Chakravarti A, Pandey A. Peri S, et al. Among authors: pevsner j. Genome Res. 2003 Oct;13(10):2363-71. doi: 10.1101/gr.1680803. Genome Res. 2003. PMID: 14525934 Free PMC article.
Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene.
Sobreira NL, Cirulli ET, Avramopoulos D, Wohler E, Oswald GL, Stevens EL, Ge D, Shianna KV, Smith JP, Maia JM, Gumbs CE, Pevsner J, Thomas G, Valle D, Hoover-Fong JE, Goldstein DB. Sobreira NL, et al. Among authors: pevsner j. PLoS Genet. 2010 Jun 17;6(6):e1000991. doi: 10.1371/journal.pgen.1000991. PLoS Genet. 2010. PMID: 20577567 Free PMC article.
Characterization of an unbalanced translocation causing 3q28qter duplication and 10q26.2qter deletion in a patient with global developmental delay and self-injury.
Osei-Owusu IA, Norris AL, Joynt AT, Thorpe J, Cho S, Tierney E, Schmidt J, Hagopian L, Harris J, Pevsner J. Osei-Owusu IA, et al. Among authors: pevsner j. Cold Spring Harb Mol Case Stud. 2020 Dec 17;6(6):a005884. doi: 10.1101/mcs.a005884. Print 2020 Dec. Cold Spring Harb Mol Case Stud. 2020. PMID: 33335013 Free PMC article.
High throughput analysis of gene expression in the human brain.
Colantuoni C, Purcell AE, Bouton CM, Pevsner J. Colantuoni C, et al. Among authors: pevsner j. J Neurosci Res. 2000 Jan 1;59(1):1-10. doi: 10.1002/(sici)1097-4547(20000101)59:1<1::aid-jnr1>3.0.co;2-2. J Neurosci Res. 2000. PMID: 10658179 Review.
133 results