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288 results

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Paternally inherited cis-regulatory structural variants are associated with autism.
Brandler WM, Antaki D, Gujral M, Kleiber ML, Whitney J, Maile MS, Hong O, Chapman TR, Tan S, Tandon P, Pang T, Tang SC, Vaux KK, Yang Y, Harrington E, Juul S, Turner DJ, Thiruvahindrapuram B, Kaur G, Wang Z, Kingsmore SF, Gleeson JG, Bisson D, Kakaradov B, Telenti A, Venter JC, Corominas R, Toma C, Cormand B, Rueda I, Guijarro S, Messer KS, Nievergelt CM, Arranz MJ, Courchesne E, Pierce K, Muotri AR, Iakoucheva LM, Hervas A, Scherer SW, Corsello C, Sebat J. Brandler WM, et al. Among authors: turner dj. Science. 2018 Apr 20;360(6386):327-331. doi: 10.1126/science.aan2261. Science. 2018. PMID: 29674594 Free PMC article.
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: turner dj. Genome Med. 2019 Apr 23;11(1):25. doi: 10.1186/s13073-019-0633-y. Genome Med. 2019. PMID: 31014393 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: turner dj. Nat Biotechnol. 2022 Oct;40(10):1488-1499. doi: 10.1038/s41587-022-01289-z. Epub 2022 May 30. Nat Biotechnol. 2022. PMID: 35637420
Highly parallel direct RNA sequencing on an array of nanopores.
Garalde DR, Snell EA, Jachimowicz D, Sipos B, Lloyd JH, Bruce M, Pantic N, Admassu T, James P, Warland A, Jordan M, Ciccone J, Serra S, Keenan J, Martin S, McNeill L, Wallace EJ, Jayasinghe L, Wright C, Blasco J, Young S, Brocklebank D, Juul S, Clarke J, Heron AJ, Turner DJ. Garalde DR, et al. Among authors: turner dj. Nat Methods. 2018 Mar;15(3):201-206. doi: 10.1038/nmeth.4577. Epub 2018 Jan 15. Nat Methods. 2018. PMID: 29334379
Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples.
Bailey MH, Meyerson WU, Dursi LJ, Wang LB, Dong G, Liang WW, Weerasinghe A, Li S, Li Y, Kelso S; MC3 Working Group; PCAWG novel somatic mutation calling methods working group; Saksena G, Ellrott K, Wendl MC, Wheeler DA, Getz G, Simpson JT, Gerstein MB, Ding L; PCAWG Consortium. Bailey MH, et al. Nat Commun. 2020 Sep 21;11(1):4748. doi: 10.1038/s41467-020-18151-y. Nat Commun. 2020. PMID: 32958763 Free PMC article.
Real-Time Culture-Independent Microbial Profiling Onboard the International Space Station Using Nanopore Sequencing.
Stahl-Rommel S, Jain M, Nguyen HN, Arnold RR, Aunon-Chancellor SM, Sharp GM, Castro CL, John KK, Juul S, Turner DJ, Stoddart D, Paten B, Akeson M, Burton AS, Castro-Wallace SL. Stahl-Rommel S, et al. Among authors: turner dj. Genes (Basel). 2021 Jan 16;12(1):106. doi: 10.3390/genes12010106. Genes (Basel). 2021. PMID: 33467183 Free PMC article.
Nanopore DNA Sequencing and Genome Assembly on the International Space Station.
Castro-Wallace SL, Chiu CY, John KK, Stahl SE, Rubins KH, McIntyre ABR, Dworkin JP, Lupisella ML, Smith DJ, Botkin DJ, Stephenson TA, Juul S, Turner DJ, Izquierdo F, Federman S, Stryke D, Somasekar S, Alexander N, Yu G, Mason CE, Burton AS. Castro-Wallace SL, et al. Among authors: turner dj. Sci Rep. 2017 Dec 21;7(1):18022. doi: 10.1038/s41598-017-18364-0. Sci Rep. 2017. PMID: 29269933 Free PMC article.
288 results