Publications

  1. Arts, P, van der Raadt, J, van Gestel, SHC, Steehouwer, M, Shendure, J, Hoischen, A et al.. Quantification of differential gene expression by multiplexed targeted resequencing of cDNA. Nat Commun. 2017;8 :15190. doi: 10.1038/ncomms15190. PubMed PMID:28474677 PubMed Central PMC5424154.
  2. Ecker, S, Chen, L, Pancaldi, V, Bagger, FO, Fernández, JM, Carrillo de Santa Pau, E et al.. Genome-wide analysis of differential transcriptional and epigenetic variability across human immune cell types. Genome Biol. 2017;18 (1):18. doi: 10.1186/s13059-017-1156-8. PubMed PMID:28126036 PubMed Central PMC5270224.
  3. Frega, M, van Gestel, SH, Linda, K, van der Raadt, J, Keller, J, Van Rhijn, JR et al.. Rapid Neuronal Differentiation of Induced Pluripotent Stem Cells for Measuring Network Activity on Micro-electrode Arrays. J Vis Exp. 2017; (119):. doi: 10.3791/54900. PubMed PMID:28117798 PubMed Central PMC5407693.
  4. Chen, L, Ge, B, Casale, FP, Vasquez, L, Kwan, T, Garrido-Martín, D et al.. Genetic Drivers of Epigenetic and Transcriptional Variation in Human Immune Cells. Cell. 2016;167 (5):1398-1414.e24. doi: 10.1016/j.cell.2016.10.026. PubMed PMID:27863251 PubMed Central PMC5119954.
  5. Marks, H, Kerstens, HH, Barakat, TS, Splinter, E, Dirks, RA, van Mierlo, G et al.. Erratum to: Dynamics of gene silencing during X inactivation using allele-specific RNA-seq. Genome Biol. 2016;17 :22. doi: 10.1186/s13059-016-0885-4. PubMed PMID:26850229 PubMed Central PMC4743200.
  6. 1000 Genomes Project Consortium, Auton, A, Brooks, LD, Durbin, RM, Garrison, EP, Kang, HM et al.. A global reference for human genetic variation. Nature. 2015;526 (7571):68-74. doi: 10.1038/nature15393. PubMed PMID:26432245 PubMed Central PMC4750478.
  7. Marks, H, Kerstens, HH, Barakat, TS, Splinter, E, Dirks, RA, van Mierlo, G et al.. Dynamics of gene silencing during X inactivation using allele-specific RNA-seq. Genome Biol. 2015;16 :149. doi: 10.1186/s13059-015-0698-x. PubMed PMID:26235224 PubMed Central PMC4546214.
  8. Delaneau, O, Marchini, J, 1000 Genomes Project Consortium, 1000 Genomes Project Consortium. Integrating sequence and array data to create an improved 1000 Genomes Project haplotype reference panel. Nat Commun. 2014;5 :3934. doi: 10.1038/ncomms4934. PubMed PMID:25653097 PubMed Central PMC4338501.
  9. Umićević Mirkov, M, Janss, L, Vermeulen, SH, van de Laar, MA, van Riel, PL, Guchelaar, HJ et al.. Estimation of heritability of different outcomes for genetic studies of TNFi response in patients with rheumatoid arthritis. Ann. Rheum. Dis. 2015;74 (12):2183-7. doi: 10.1136/annrheumdis-2014-205541. PubMed PMID:25114059 .
  10. Colonna, V, Ayub, Q, Chen, Y, Pagani, L, Luisi, P, Pybus, M et al.. Human genomic regions with exceptionally high levels of population differentiation identified from 911 whole-genome sequences. Genome Biol. 2014;15 (6):R88. doi: 10.1186/gb-2014-15-6-r88. PubMed PMID:24980144 PubMed Central PMC4197830.
  11. Albers, CA, Newbury-Ecob, R, Ouwehand, WH, Ghevaert, C. New insights into the genetic basis of TAR (thrombocytopenia-absent radii) syndrome. Curr. Opin. Genet. Dev. 2013;23 (3):316-23. doi: 10.1016/j.gde.2013.02.015. PubMed PMID:23602329 .
  12. Paul, DS, Albers, CA, Rendon, A, Voss, K, Stephens, J, HaemGen Consortium et al.. Maps of open chromatin highlight cell type-restricted patterns of regulatory sequence variation at hematological trait loci. Genome Res. 2013;23 (7):1130-41. doi: 10.1101/gr.155127.113. PubMed PMID:23570689 PubMed Central PMC3698506.
  13. Cvejic, A, Haer-Wigman, L, Stephens, JC, Kostadima, M, Smethurst, PA, Frontini, M et al.. SMIM1 underlies the Vel blood group and influences red blood cell traits. Nat. Genet. 2013;45 (5):542-545. doi: 10.1038/ng.2603. PubMed PMID:23563608 PubMed Central PMC4179282.
  14. Montgomery, SB, Goode, DL, Kvikstad, E, Albers, CA, Zhang, ZD, Mu, XJ et al.. The origin, evolution, and functional impact of short insertion-deletion variants identified in 179 human genomes. Genome Res. 2013;23 (5):749-61. doi: 10.1101/gr.148718.112. PubMed PMID:23478400 PubMed Central PMC3638132.
  15. van der Harst, P, Zhang, W, Mateo Leach, I, Rendon, A, Verweij, N, Sehmi, J et al.. Seventy-five genetic loci influencing the human red blood cell. Nature. 2012;492 (7429):369-75. doi: 10.1038/nature11677. PubMed PMID:23222517 PubMed Central PMC3623669.
  16. 1000 Genomes Project Consortium, Abecasis, GR, Auton, A, Brooks, LD, DePristo, MA, Durbin, RM et al.. An integrated map of genetic variation from 1,092 human genomes. Nature. 2012;491 (7422):56-65. doi: 10.1038/nature11632. PubMed PMID:23128226 PubMed Central PMC3498066.
  17. Clarke, L, Zheng-Bradley, X, Smith, R, Kulesha, E, Xiao, C, Toneva, I et al.. The 1000 Genomes Project: data management and community access. Nat. Methods. 2012;9 (5):459-62. doi: 10.1038/nmeth.1974. PubMed PMID:22543379 PubMed Central PMC3340611.
  18. Albers, CA, Paul, DS, Schulze, H, Freson, K, Stephens, JC, Smethurst, PA et al.. Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome. Nat. Genet. 2012;44 (4):435-9, S1-2. doi: 10.1038/ng.1083. PubMed PMID:22366785 PubMed Central PMC3428915.
  19. MacArthur, DG, Balasubramanian, S, Frankish, A, Huang, N, Morris, J, Walter, K et al.. A systematic survey of loss-of-function variants in human protein-coding genes. Science. 2012;335 (6070):823-8. doi: 10.1126/science.1215040. PubMed PMID:22344438 PubMed Central PMC3299548.
  20. Marth, GT, Yu, F, Indap, AR, Garimella, K, Gravel, S, Leong, WF et al.. The functional spectrum of low-frequency coding variation. Genome Biol. 2011;12 (9):R84. doi: 10.1186/gb-2011-12-9-r84. PubMed PMID:21917140 PubMed Central PMC3308047.
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