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Skewed X-inactivation is common in the general female population.
Shvetsova E, Sofronova A, Monajemi R, Gagalova K, Draisma HHM, White SJ, Santen GWE, Chuva de Sousa Lopes SM, Heijmans BT, van Meurs J, Jansen R, Franke L, Kiełbasa SM, den Dunnen JT, 't Hoen PAC; BIOS consortium; GoNL consortium. Shvetsova E, et al. Among authors: kielbasa sm. Eur J Hum Genet. 2019 Mar;27(3):455-465. doi: 10.1038/s41431-018-0291-3. Epub 2018 Dec 14. Eur J Hum Genet. 2019. PMID: 30552425 Free PMC article.
Improving Phenotypic Prediction by Combining Genetic and Epigenetic Associations.
Shah S, Bonder MJ, Marioni RE, Zhu Z, McRae AF, Zhernakova A, Harris SE, Liewald D, Henders AK, Mendelson MM, Liu C, Joehanes R, Liang L; BIOS Consortium; Levy D, Martin NG, Starr JM, Wijmenga C, Wray NR, Yang J, Montgomery GW, Franke L, Deary IJ, Visscher PM. Shah S, et al. Am J Hum Genet. 2015 Jul 2;97(1):75-85. doi: 10.1016/j.ajhg.2015.05.014. Epub 2015 Jun 25. Am J Hum Genet. 2015. PMID: 26119815 Free PMC article.
Molecular signatures of age-associated chronic degeneration of shoulder muscles.
Raz Y, Henseler JF, Kolk A, Tatum Z, Groosjohan NK, Verwey NE, Arindrarto W, Kielbasa SM, Nagels J, 't Hoen PA, Nelissen RG, Raz V. Raz Y, et al. Among authors: kielbasa sm. Oncotarget. 2016 Feb 23;7(8):8513-23. doi: 10.18632/oncotarget.7382. Oncotarget. 2016. PMID: 26885755 Free PMC article.
Refined mapping of autoimmune disease associated genetic variants with gene expression suggests an important role for non-coding RNAs.
Ricaño-Ponce I, Zhernakova DV, Deelen P, Luo O, Li X, Isaacs A, Karjalainen J, Di Tommaso J, Borek ZA, Zorro MM, Gutierrez-Achury J, Uitterlinden AG, Hofman A, van Meurs J; BIOS Consortium; Lifelines Cohort Study; Netea MG, Jonkers IH, Withoff S, van Duijn CM, Li Y, Ruan Y, Franke L, Wijmenga C, Kumar V. Ricaño-Ponce I, et al. J Autoimmun. 2016 Apr;68:62-74. doi: 10.1016/j.jaut.2016.01.002. Epub 2016 Feb 18. J Autoimmun. 2016. PMID: 26898941 Free PMC article.
Identification of context-dependent expression quantitative trait loci in whole blood.
Zhernakova DV, Deelen P, Vermaat M, van Iterson M, van Galen M, Arindrarto W, van 't Hof P, Mei H, van Dijk F, Westra HJ, Bonder MJ, van Rooij J, Verkerk M, Jhamai PM, Moed M, Kielbasa SM, Bot J, Nooren I, Pool R, van Dongen J, Hottenga JJ, Stehouwer CD, van der Kallen CJ, Schalkwijk CG, Zhernakova A, Li Y, Tigchelaar EF, de Klein N, Beekman M, Deelen J, van Heemst D, van den Berg LH, Hofman A, Uitterlinden AG, van Greevenbroek MM, Veldink JH, Boomsma DI, van Duijn CM, Wijmenga C, Slagboom PE, Swertz MA, Isaacs A, van Meurs JB, Jansen R, Heijmans BT, 't Hoen PA, Franke L. Zhernakova DV, et al. Among authors: kielbasa sm. Nat Genet. 2017 Jan;49(1):139-145. doi: 10.1038/ng.3737. Epub 2016 Dec 5. Nat Genet. 2017. PMID: 27918533
Disease variants alter transcription factor levels and methylation of their binding sites.
Bonder MJ, Luijk R, Zhernakova DV, Moed M, Deelen P, Vermaat M, van Iterson M, van Dijk F, van Galen M, Bot J, Slieker RC, Jhamai PM, Verbiest M, Suchiman HE, Verkerk M, van der Breggen R, van Rooij J, Lakenberg N, Arindrarto W, Kielbasa SM, Jonkers I, van 't Hof P, Nooren I, Beekman M, Deelen J, van Heemst D, Zhernakova A, Tigchelaar EF, Swertz MA, Hofman A, Uitterlinden AG, Pool R, van Dongen J, Hottenga JJ, Stehouwer CD, van der Kallen CJ, Schalkwijk CG, van den Berg LH, van Zwet EW, Mei H, Li Y, Lemire M, Hudson TJ; BIOS Consortium; Slagboom PE, Wijmenga C, Veldink JH, van Greevenbroek MM, van Duijn CM, Boomsma DI, Isaacs A, Jansen R, van Meurs JB, 't Hoen PA, Franke L, Heijmans BT. Bonder MJ, et al. Among authors: kielbasa sm. Nat Genet. 2017 Jan;49(1):131-138. doi: 10.1038/ng.3721. Epub 2016 Dec 5. Nat Genet. 2017. PMID: 27918535
DNA Methylation Analysis Identifies Loci for Blood Pressure Regulation.
Richard MA, Huan T, Ligthart S, Gondalia R, Jhun MA, Brody JA, Irvin MR, Marioni R, Shen J, Tsai PC, Montasser ME, Jia Y, Syme C, Salfati EL, Boerwinkle E, Guan W, Mosley TH Jr, Bressler J, Morrison AC, Liu C, Mendelson MM, Uitterlinden AG, van Meurs JB; BIOS Consortium; Franco OH, Zhang G, Li Y, Stewart JD, Bis JC, Psaty BM, Chen YI, Kardia SLR, Zhao W, Turner ST, Absher D, Aslibekyan S, Starr JM, McRae AF, Hou L, Just AC, Schwartz JD, Vokonas PS, Menni C, Spector TD, Shuldiner A, Damcott CM, Rotter JI, Palmas W, Liu Y, Paus T, Horvath S, O'Connell JR, Guo X, Pausova Z, Assimes TL, Sotoodehnia N, Smith JA, Arnett DK, Deary IJ, Baccarelli AA, Bell JT, Whitsel E, Dehghan A, Levy D, Fornage M. Richard MA, et al. Am J Hum Genet. 2017 Dec 7;101(6):888-902. doi: 10.1016/j.ajhg.2017.09.028. Epub 2017 Nov 30. Am J Hum Genet. 2017. PMID: 29198723 Free PMC article.
Brain Transcriptomic Analysis of Hereditary Cerebral Hemorrhage With Amyloidosis-Dutch Type.
Grand Moursel L, van Roon-Mom WMC, Kiełbasa SM, Mei H, Buermans HPJ, van der Graaf LM, Hettne KM, de Meijer EJ, van Duinen SG, Laros JFJ, van Buchem MA, 't Hoen PAC, van der Maarel SM, van der Weerd L. Grand Moursel L, et al. Among authors: kielbasa sm. Front Aging Neurosci. 2018 Apr 13;10:102. doi: 10.3389/fnagi.2018.00102. eCollection 2018. Front Aging Neurosci. 2018. PMID: 29706885 Free PMC article.
Transcriptional profiling and biomarker identification reveal tissue specific effects of expanded ataxin-3 in a spinocerebellar ataxia type 3 mouse model.
Toonen LJA, Overzier M, Evers MM, Leon LG, van der Zeeuw SAJ, Mei H, Kielbasa SM, Goeman JJ, Hettne KM, Magnusson OT, Poirel M, Seyer A, 't Hoen PAC, van Roon-Mom WMC. Toonen LJA, et al. Among authors: kielbasa sm. Mol Neurodegener. 2018 Jun 22;13(1):31. doi: 10.1186/s13024-018-0261-9. Mol Neurodegener. 2018. PMID: 29929540 Free PMC article.
96 results