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426 results

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Single-cell multi-omics defines the cell-type-specific impact of splicing aberrations in human hematopoietic clonal outgrowths.
Cortés-López M, Chamely P, Hawkins AG, Stanley RF, Swett AD, Ganesan S, Mouhieddine TH, Dai X, Kluegel L, Chen C, Batta K, Furer N, Vedula RS, Beaulaurier J, Drong AW, Hickey S, Dusaj N, Mullokandov G, Stasiw AM, Su J, Chaligné R, Juul S, Harrington E, Knowles DA, Potenski CJ, Wiseman DH, Tanay A, Shlush L, Lindsley RC, Ghobrial IM, Taylor J, Abdel-Wahab O, Gaiti F, Landau DA. Cortés-López M, et al. Among authors: harrington e. Cell Stem Cell. 2023 Sep 7;30(9):1262-1281.e8. doi: 10.1016/j.stem.2023.07.012. Epub 2023 Aug 14. Cell Stem Cell. 2023. PMID: 37582363
Somatic mutations and cell identity linked by Genotyping of Transcriptomes.
Nam AS, Kim KT, Chaligne R, Izzo F, Ang C, Taylor J, Myers RM, Abu-Zeinah G, Brand R, Omans ND, Alonso A, Sheridan C, Mariani M, Dai X, Harrington E, Pastore A, Cubillos-Ruiz JR, Tam W, Hoffman R, Rabadan R, Scandura JM, Abdel-Wahab O, Smibert P, Landau DA. Nam AS, et al. Among authors: harrington e. Nature. 2019 Jul;571(7765):355-360. doi: 10.1038/s41586-019-1367-0. Epub 2019 Jul 3. Nature. 2019. PMID: 31270458 Free PMC article.
Identifying synergistic high-order 3D chromatin conformations from genome-scale nanopore concatemer sequencing.
Deshpande AS, Ulahannan N, Pendleton M, Dai X, Ly L, Behr JM, Schwenk S, Liao W, Augello MA, Tyer C, Rughani P, Kudman S, Tian H, Otis HG, Adney E, Wilkes D, Mosquera JM, Barbieri CE, Melnick A, Stoddart D, Turner DJ, Juul S, Harrington E, Imieliński M. Deshpande AS, et al. Among authors: harrington e. Nat Biotechnol. 2022 Oct;40(10):1488-1499. doi: 10.1038/s41587-022-01289-z. Epub 2022 May 30. Nat Biotechnol. 2022. PMID: 35637420
Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome.
Carvalho CMB, Coban-Akdemir Z, Hijazi H, Yuan B, Pendleton M, Harrington E, Beaulaurier J, Juul S, Turner DJ, Kanchi RS, Jhangiani SN, Muzny DM, Gibbs RA; Baylor-Hopkins Center for Mendelian Genomics; Stankiewicz P, Belmont JW, Shaw CA, Cheung SW, Hanchard NA, Sutton VR, Bader PI, Lupski JR. Carvalho CMB, et al. Among authors: harrington e. Genome Med. 2019 Apr 23;11(1):25. doi: 10.1186/s13073-019-0633-y. Genome Med. 2019. PMID: 31014393 Free PMC article.
Transcriptome variation in human tissues revealed by long-read sequencing.
Glinos DA, Garborcauskas G, Hoffman P, Ehsan N, Jiang L, Gokden A, Dai X, Aguet F, Brown KL, Garimella K, Bowers T, Costello M, Ardlie K, Jian R, Tucker NR, Ellinor PT, Harrington ED, Tang H, Snyder M, Juul S, Mohammadi P, MacArthur DG, Lappalainen T, Cummings BB. Glinos DA, et al. Nature. 2022 Aug;608(7922):353-359. doi: 10.1038/s41586-022-05035-y. Epub 2022 Aug 3. Nature. 2022. PMID: 35922509 Free PMC article.
The multiple de novo copy number variant (MdnCNV) phenomenon presents with peri-zygotic DNA mutational signatures and multilocus pathogenic variation.
Du H, Jolly A, Grochowski CM, Yuan B, Dawood M, Jhangiani SN, Li H, Muzny D, Fatih JM, Coban-Akdemir Z, Carlin ME, Scheuerle AE, Witzl K, Posey JE, Pendleton M, Harrington E, Juul S, Hastings PJ, Bi W, Gibbs RA, Sedlazeck FJ, Lupski JR, Carvalho CMB, Liu P. Du H, et al. Among authors: harrington e. Genome Med. 2022 Oct 27;14(1):122. doi: 10.1186/s13073-022-01123-w. Genome Med. 2022. PMID: 36303224 Free PMC article.
426 results