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Identification of copy number variants from exome sequence data.
Samarakoon PS, Sorte HS, Kristiansen BE, Skodje T, Sheng Y, Tjønnfjord GE, Stadheim B, Stray-Pedersen A, Rødningen OK, Lyle R. Samarakoon PS, et al. Among authors: sheng y. BMC Genomics. 2014 Aug 7;15(1):661. doi: 10.1186/1471-2164-15-661. BMC Genomics. 2014. PMID: 25102989 Free PMC article.
Limitations and possibilities of low cell number ChIP-seq.
Gilfillan GD, Hughes T, Sheng Y, Hjorthaug HS, Straub T, Gervin K, Harris JR, Undlien DE, Lyle R. Gilfillan GD, et al. Among authors: sheng y. BMC Genomics. 2012 Nov 21;13:645. doi: 10.1186/1471-2164-13-645. BMC Genomics. 2012. PMID: 23171294 Free PMC article.
Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders.
Stray-Pedersen A, Sorte HS, Samarakoon P, Gambin T, Chinn IK, Coban Akdemir ZH, Erichsen HC, Forbes LR, Gu S, Yuan B, Jhangiani SN, Muzny DM, Rødningen OK, Sheng Y, Nicholas SK, Noroski LM, Seeborg FO, Davis CM, Canter DL, Mace EM, Vece TJ, Allen CE, Abhyankar HA, Boone PM, Beck CR, Wiszniewski W, Fevang B, Aukrust P, Tjønnfjord GE, Gedde-Dahl T, Hjorth-Hansen H, Dybedal I, Nordøy I, Jørgensen SF, Abrahamsen TG, Øverland T, Bechensteen AG, Skogen V, Osnes LTN, Kulseth MA, Prescott TE, Rustad CF, Heimdal KR, Belmont JW, Rider NL, Chinen J, Cao TN, Smith EA, Caldirola MS, Bezrodnik L, Lugo Reyes SO, Espinosa Rosales FJ, Guerrero-Cursaru ND, Pedroza LA, Poli CM, Franco JL, Trujillo Vargas CM, Aldave Becerra JC, Wright N, Issekutz TB, Issekutz AC, Abbott J, Caldwell JW, Bayer DK, Chan AY, Aiuti A, Cancrini C, Holmberg E, West C, Burstedt M, Karaca E, Yesil G, Artac H, Bayram Y, Atik MM, Eldomery MK, Ehlayel MS, Jolles S, Flatø B, Bertuch AA, Hanson IC, Zhang VW, Wong LJ, Hu J, Walkiewicz M, Yang Y, Eng CM, Boerwinkle E, Gibbs RA, Shearer WT, Lyle R, Orange JS, Lupski JR. Stray-Pedersen A, et al. Among authors: sheng y. J Allergy Clin Immunol. 2017 Jan;139(1):232-245. doi: 10.1016/j.jaci.2016.05.042. Epub 2016 Jul 16. J Allergy Clin Immunol. 2017. PMID: 27577878 Free PMC article.
Exome Sequencing Fails to Identify the Genetic Cause of Aicardi Syndrome.
Lund C, Striano P, Sorte HS, Parisi P, Iacomino M, Sheng Y, Vigeland MD, Øye AM, Møller RS, Selmer KK, Zara F. Lund C, et al. Among authors: sheng y. Mol Syndromol. 2016 Sep;7(4):234-238. doi: 10.1159/000448367. Epub 2016 Aug 17. Mol Syndromol. 2016. PMID: 27781033 Free PMC article.
Whole-exome sequencing for diagnosis of hereditary ichthyosis.
Sitek JC, Kulseth MA, Rypdal KB, Skodje T, Sheng Y, Retterstøl L. Sitek JC, et al. Among authors: sheng y. J Eur Acad Dermatol Venereol. 2018 Jun;32(6):1022-1027. doi: 10.1111/jdv.14870. Epub 2018 Mar 9. J Eur Acad Dermatol Venereol. 2018. PMID: 29444371
A 39 kb structural variant causing Lynch Syndrome detected by optical genome mapping and nanopore sequencing.
Bjørnstad PM, Aaløkken R, Åsheim J, Sundaram AYM, Felde CN, Østby GH, Dalland M, Sjursen W, Carrizosa C, Vigeland MD, Sorte HS, Sheng Y, Ariansen SL, Grindedal EM, Gilfillan GD. Bjørnstad PM, et al. Among authors: sheng y. Eur J Hum Genet. 2024 May;32(5):513-520. doi: 10.1038/s41431-023-01494-7. Epub 2023 Nov 29. Eur J Hum Genet. 2024. PMID: 38030917
Publisher Correction: A 39 kb structural variant causing Lynch syndrome detected by optical genome mapping and nanopore sequencing.
Bjørnstad PM, Aaløkken R, Åsheim J, Sundaram AYM, Felde CN, Østby GH, Dalland M, Sjursen W, Carrizosa C, Vigeland MD, Sorte HS, Sheng Y, Ariansen SL, Grindedal EM, Gilfillan GD. Bjørnstad PM, et al. Among authors: sheng y. Eur J Hum Genet. 2024 May;32(5):601-602. doi: 10.1038/s41431-023-01519-1. Eur J Hum Genet. 2024. PMID: 38172175 No abstract available.
3,042 results