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A novel somatic mutation in GNB2 provides new insights to the pathogenesis of Sturge-Weber syndrome.
Fjær R, Marciniak K, Sundnes O, Hjorthaug H, Sheng Y, Hammarström C, Sitek JC, Vigeland MD, Backe PH, Øye AM, Fosse JH, Stav-Noraas TE, Uchiyama Y, Matsumoto N, Comi A, Pevsner J, Haraldsen G, Selmer KK. Fjær R, et al. Among authors: sheng y. Hum Mol Genet. 2021 Oct 13;30(21):1919-1931. doi: 10.1093/hmg/ddab144. Hum Mol Genet. 2021. PMID: 34124757 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.
Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF.
Filges I, Bruder E, Brandal K, Meier S, Undlien DE, Waage TR, Hoesli I, Schubach M, de Beer T, Sheng Y, Hoeller S, Schulzke S, Røsby O, Miny P, Tercanli S, Oppedal T, Meyer P, Selmer KK, Strømme P. Filges I, et al. Among authors: sheng y. Hum Mutat. 2016 Apr;37(4):359-63. doi: 10.1002/humu.22960. Epub 2016 Feb 9. Hum Mutat. 2016. PMID: 26820108
Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF.
Filges I, Bruder E, Brandal K, Meier S, Undlien DE, Waage TR, Hoesli I, Schubach M, de Beer T, Sheng Y, Hoeller S, Schulzke S, Røsby O, Miny P, Tercanli S, Oppedal T, Meyer P, Selmer KK, Strømme P. Filges I, et al. Among authors: sheng y. Hum Mutat. 2016 Jul;37(7):711. doi: 10.1002/humu.22997. Epub 2016 Apr 15. Hum Mutat. 2016. PMID: 27300082 No abstract available.
Pathogenic variants in KCTD7 perturb neuronal K+ fluxes and glutamine transport.
Moen MN, Fjær R, Hamdani EH, Laerdahl JK, Menchini RJ, Vigeland MD, Sheng Y, Undlien DE, Hassel B, Salih MA, El Khashab HY, Selmer KK, Chaudhry FA. Moen MN, et al. Among authors: sheng y. Brain. 2016 Dec;139(Pt 12):3109-3120. doi: 10.1093/brain/aww244. Epub 2016 Oct 14. Brain. 2016. PMID: 27742667
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.
Novel UCHL1 mutations reveal new insights into ubiquitin processing.
Rydning SL, Backe PH, Sousa MML, Iqbal Z, Øye AM, Sheng Y, Yang M, Lin X, Slupphaug G, Nordenmark TH, Vigeland MD, Bjørås M, Tallaksen CM, Selmer KK. Rydning SL, et al. Among authors: sheng y. Hum Mol Genet. 2017 Mar 15;26(6):1031-1040. doi: 10.1093/hmg/ddw391. Hum Mol Genet. 2017. PMID: 28007905
3,291 results