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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. 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.
Integrated clinical and omics approach to rare diseases: novel genes and oligogenic inheritance in holoprosencephaly.
Kim A, Savary C, Dubourg C, Carré W, Mouden C, Hamdi-Rozé H, Guyodo H, Douce JL; FREX Consortium; GoNL Consortium; Pasquier L, Flori E, Gonzales M, Bénéteau C, Boute O, Attié-Bitach T, Roume J, Goujon L, Akloul L, Odent S, Watrin E, Dupé V, de Tayrac M, David V. Kim A, et al. Brain. 2019 Jan 1;142(1):35-49. doi: 10.1093/brain/awy290. Brain. 2019. PMID: 30508070 Free article.
Negative selection in humans and fruit flies involves synergistic epistasis.
Sohail M, Vakhrusheva OA, Sul JH, Pulit SL, Francioli LC; Genome of the Netherlands Consortium; Alzheimer’s Disease Neuroimaging Initiative; van den Berg LH, Veldink JH, de Bakker PIW, Bazykin GA, Kondrashov AS, Sunyaev SR. Sohail M, et al. Science. 2017 May 5;356(6337):539-542. doi: 10.1126/science.aah5238. Science. 2017. PMID: 28473589 Free PMC article.
A framework for the detection of de novo mutations in family-based sequencing data.
Francioli LC, Cretu-Stancu M, Garimella KV, Fromer M, Kloosterman WP; Genome of the Netherlands consortium; Samocha KE, Neale BM, Daly MJ, Banks E, DePristo MA, de Bakker PI. Francioli LC, et al. Eur J Hum Genet. 2017 Feb;25(2):227-233. doi: 10.1038/ejhg.2016.147. Epub 2016 Nov 23. Eur J Hum Genet. 2017. PMID: 27876817 Free PMC article.
Precision Medicine: What Challenges Are We Facing?
Xue Y, Lameijer EW, Ye K, Zhang K, Chang S, Wang X, Wu J, Gao G, Zhao F, Li J, Han C, Xu S, Xiao J, Yang X, Ying X, Zhang X, Chen WH, Liu Y, Zhang Z, Huang K, Yu J. Xue Y, et al. Among authors: lameijer ew. Genomics Proteomics Bioinformatics. 2016 Oct;14(5):253-261. doi: 10.1016/j.gpb.2016.10.001. Epub 2016 Oct 13. Genomics Proteomics Bioinformatics. 2016. PMID: 27744061 Free PMC article. No abstract available.
Computational pan-genomics: status, promises and challenges.
Computational Pan-Genomics Consortium. Computational Pan-Genomics Consortium. Brief Bioinform. 2018 Jan 1;19(1):118-135. doi: 10.1093/bib/bbw089. Brief Bioinform. 2018. PMID: 27769991 Free PMC article. Review.
A high-quality human reference panel reveals the complexity and distribution of genomic structural variants.
Hehir-Kwa JY, Marschall T, Kloosterman WP, Francioli LC, Baaijens JA, Dijkstra LJ, Abdellaoui A, Koval V, Thung DT, Wardenaar R, Renkens I, Coe BP, Deelen P, de Ligt J, Lameijer EW, van Dijk F, Hormozdiari F; Genome of the Netherlands Consortium; Uitterlinden AG, van Duijn CM, Eichler EE, de Bakker PI, Swertz MA, Wijmenga C, van Ommen GB, Slagboom PE, Boomsma DI, Schönhuth A, Ye K, Guryev V. Hehir-Kwa JY, et al. Among authors: lameijer ew. Nat Commun. 2016 Oct 6;7:12989. doi: 10.1038/ncomms12989. Nat Commun. 2016. PMID: 27708267 Free PMC article.
28 results