Publications 2012

We have listed only items that contain BBMRI-NL or the grant number in the affiliation, funding and/or acknowledgement section of the article. Items are listed per year in alphabetical order.

  • Adamusiak T, Parkinson H, Muilu J, Roos E, van der Velde KJ, Thorisson GA, Byrne M, Pang C, Gollapudi S, Ferretti V, et al.: Observ-om and observ-tab: Universal syntax solutions for the integration, search, and exchange of phenotype and genotype information. Human Mutation 33(5): 867-873.
  • Boraska V, Jeroncic A, Colonna V, Southam L, Nyholt DR, Rayner NW, Perry JRB, Toniolo D, Albrecht E, Ang W, et al.: Genome-wide metaanalysis of common variant differences between men and women. Human Molecular Genetics 21(21): 4805-4815.
  • Bradfield JP, Taal HR, Timpson NJ, Scherag A, Lecoeur C, Warrington NM, Hypponen E, Holst C, Valcarcel B, Thiering E, et al.: A genomewide association meta-analysis identifies new childhood obesity loci. Nature Genetics 44(5): 526-531.
  • Byelas HV, Dijkstra M, Swertz M: Introducing data provenance and error handling for ngs workflows within the molgenis computational framework. Bioinformatics 12: 42-50.
  • Dura P, Salomon J, Te Morsche RH, Roelofs HM, Kristinsson JO, Wobbes T, Witteman BJ, Tan AC, Drenth JP, Peters WH: High enzyme activity UGT1A1 or low activity UGT1A8 and UGT2B4 genotypes increase esophageal cancer risk. International Journal of Oncology 40(6): 1789-1796.
  • Ehli EA, Abdellaoui A, Hu YS, Hottenga JJ, Kattenberg M, van Beijsterveldt T, Bartels M, Althoff RR, Xiao XJ, Scheet P, et al.: De novo and inherited cnvs in mz twin pairs selected for discordance and concordance on attention problems. European Journal of Human Genetics 20(10): 1037-1043.
  • Fasching PA, Pharoah PDP, Cox A, Nevanlinna H, Bojesen SE, Karn T, Broeks A, van Leeuwen FE, van 't Veer LJ, Udo R, et al.: The role of genetic breast cancer susceptibility variants as prognostic factors. Human Molecular Genetics 21(17): 3926-3939.
  • Harris JR, Burton P, Knoppers BM, Lindpaintner K, Bledsoe M, Brookes AJ, Budin-Ljosne I, Chisholm R, Cox D, Deschenes M, et al.: Toward a roadmap in global biobanking for health. European Journal of Human Genetics 20(11): 1105-1111.
  • Hastings R, de Wert G, Fowler B, Krawczak M, Vermeulen E, Bakker E, Borry P, Dondorp W, Nijsingh N, Barton D, et al.: The changing landscape of genetic testing and its impact on clinical and laboratory services and research in Europe. European Journal of Human Genetics 20(9): 911-916.
  • Hoogman M, Rijpkema M, Janss L, Brunner H, Fernandez G, Buitelaar J, Franke B, Arias-Vasquez A: Current self-reported symptoms of attention deficit/hyperactivity disorder are associated with total brain volume in healthy adults. Plos One 7(2): e31273.
  • Houdt van JK, Nowakowska BA, Sousa SB, van Schaik BD, Seuntjens E, Avonce N, Sifrim A, Abdul-Rahman OA, van den Boogaard MJ, Bottani A, et al.: Heterozygous missense mutations in SMARCA2 cause nicolaides-baraitser syndrome. Nature Genetics 44(4): 445- 449.
  • Lambrechts D, Truong T, Justenhoven C, Humphreys MK, Wang J, Hopper JL, Dite GS, Apicella C, Southey MC, Schmidt MK, et al.: 11q13 is a susceptibility locus for hormone receptor positive breast cancer. Human Mutation 33(7): 1123-1132.
  • Lee PH, Perlis RH, Jung JY, Byrne EM, Rueckert E, Siburian R, Haddad S, Mayerfeld CE, Heath AC, Pergadia ML, et al.: Multi-locus genomewide association analysis supports the role of glutamatergic synaptic transmission in the etiology of major depressive disorder. Translational Psychiatry 2: e184.
  • Lubke GH, Hottenga JJ, Walters R, Laurin C, de Geus EJC, Willemsen G, Smit JH, Middeldorp CM, Penninx BWJH, Vink JM, et al.: Estimating the genetic variance of major depressive disorder due to all single nucleotide polymorphisms. Biological Psychiatry 72(8): 707-709.
  • Luo XJ, Li M, Huang L, Nho K, Deng M, Chen Q, Weinberger DR, Vasquez AA, Rijpkema M, Mattay VS, et al.: The interleukin 3 gene (IL3) contributes to human brain volume variation by regulating proliferation and survival of neural progenitors. Plos One 7(11): e50375.
  • Mathyssek CM, Olino TM, Verhulst FC, van Oort FVA: Childhood internalizing and externalizing problems predict the onset of clinical panic attacks over adolescence: The TRAILS study. Plos One 7(12): 6.
  • Middelberg RP, Benyamin B, de Moor MHM, Warrington NM, Gordon S, Henders AK, Medland SE, Nyholt DR, de Geus EJC, Hottenga JJ, et al.: Loci affecting gamma-glutamyl transferase in adults and adolescents show age x snp interaction and cardiometabolic disease associations. Human Molecular Genetics 21(2): 446-455.
  • Moor de MHM, Costa PT, Terracciano A, Krueger RF, de Geus EJC, Toshiko T, Penninx B, Esko T, Madden PAF, Derringer J, et al.: Metaanalysis of genome-wide association studies for personality. Molecular Psychiatry 17(3): 337-349.
  • Ormel J, Oldehinkel AJ, Sijtsema J, van Oort F, Raven D, Veenstra R, Vollebergh WAM, Verhulst FC: The tracking adolescents' individual lives survey (TRAILS): Design, current status, and selected findings. J Am Acad Child Adolesc Psychiatry 51(10): 1020-1036.
  • Overbeek L, van Kemenade FJ, Meijer GA: Het pathologischanatomisch landelijk geautomatiseerd archief: Een databank plus nader-gebruik-biobank van grote waarde. Tijdschrift voor gezondheidswetenschappen 90(5): 276-279.
  • Overbeek L, Arkema JMS, Hofhuis EH, Rozendaal L, van Velthuysen MLF, van Dekken H, Nagtegaal ID: De mogelijkheden van het pathologisch-anatomisch landelijk geautomatiseerd archief [the value of the nationwide network and registry of histo- and cytopathology in the Netherlands]. Nederlands tijdschrift voor oncologie 9(3): 104-110.
  • Patrinos GP, Cooper DN, van Mulligen E, Gkantouna V, Tzimas G, Tatum Z, Schultes E, Roos M, Mons B: Microattribution and nanopublication as means to incentivize the placement of human genome variation data into the public domain. Human Mutation 33(11): 1503-1512.
  • Rebers S, van der Valk T, Meijer GA, van Leeuwen FE, Schmidt MK: Zeggenschap over nader gebruik van lichaamsmateriaal: Patiënt is het best gediend met ‘geen bezwaar’-procedure. Nederlands tijdschrift voor Geneeskunde 156: A4485.
  • Riet van't E, Schram MT, Abbink EJ, Admiraal WM, Dijk-Schaap MW, Holleman F, Nijpels G, Ozcan B, Pijl H, Schaper NC, et al.: The Diabetes Pearl: Diabetes biobanking in the Netherlands. BMC Public Health 12: 949.
  • Scheet P, Ehli EA, Xiao XJ, van Beijsterveldt CEM, Abdellaoui A, Althoff RR, Hottenga JJ, Willemsen G, Nelson KA, Huizenga PE, et al.: Twins, tissue, and time: An assessment of snps and cnvs. Twin Research and Human Genetics 15(6): 737-745.
  • Scott RA, Lagou V, Welch RP, Wheeler E, Montasser ME, Luan JA, Magi R, Strawbridge RJ, Rehnberg E, Gustafsson S, et al.: Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways. Nature Genetics 44(9): 991-1005.
  • Stein JL, Medland SE, Vasquez AA, Hibar DP, Senstad RE, Winkler AM, Toro R, Appel K, Bartecek R, Bergmann O, et al.: Identification of common variants associated with human hippocampal and intracranial volumes. Nature Genetics 44(5): 552-561.
  • Stevens KN, Wang XS, Fredericksen Z, Pankratz VS, Greene MH, Andrulis IL, Thomassen M, Caligo M, Nathanson KL, Jakubowska A, et al.: Evaluation of chromosome 6p22 as a breast cancer risk modifier locus in a follow-up study of BRCA2 mutation carriers. Breast Cancer Research and Treatment 136(1): 295-302.
  • Surakka I, Whitfield JB, Perola M, Visscher PM, Montgomery GW, Falchi M, Willemsen G, de Geus EJC, Magnusson PKE, Christensen K, et al.: A genome-wide association study of monozygotic twin-pairs suggests a locus related to variability of serum high-density lipoprotein cholesterol. Twin Research and Human Genetics 15(6): 691-699.
  • Talens RP, Christensen K, Putter H, Willemsen G, Christiansen L, Kremer D, Suchiman HED, Slagboom PE, Boomsma DI, Heijmans BT: Epigenetic variation during the adult lifespan: Cross-sectional and longitudinal data on monozygotic twin pairs. Aging Cell 11(4): 694- 703.
  • Traylor M, Farrall M, Holliday EG, Sudlow C, Hopewell JC, Cheng YC, Fomage M, Ikram MA, Malik R, Bevan S, et al.: Genetic risk factors for ischaemic stroke and its subtypes (the metastroke collaboration): A meta-analysis of genome-wide association studies. Lancet Neurology 11(11): 951-962.
  • Uh HW, Deelen J, Beekman M, Helmer Q, Rivadeneira F, Hottenga JJ, Boomsma DI, Hofman A, Uitterlinden AG, Slagboom PE, et al.: How to deal with the early gwas data when imputing and combining different arrays is necessary. European Journal of Human Genetics 20(5): 572-576.
  • Warren H, Dudbridge F, Fletcher O, Orr N, Johnson N, Hopper JL, Apicella C, Southey MC, Mahmoodi M, Schmidt MK, et al.: 9q31.2- rs865686 as a susceptibility locus for estrogen receptor-positive breast cancer: Evidence from the breast cancer association consortium. Cancer Epidemiology Biomarkers & Prevention 21(10): 1783-1791.
  • Weischer M, Nordestgaard BG, Pharoah P, Bolla MK, Nevanlinna H, van't Veer LJ, Garcia-Closas M, Hopper JL, Hall P, Andrulis IL, et al.: Chek2*1100delc heterozygosity in women with breast cancer associated with early death, breast cancer-specific death, and increased risk of a second breast cancer. Journal of Clinical Oncology 30(35): 4308-4316.
  • Ye K, Guryev V, Kloosterman W, Francioli L, Hehir-Kwa JY, Lameijer E, Abdellaoui A, de Ligt J, Koval V, Amin A, et al.: Analysis of structural variation in the Genome of the Netherlands (GoNL) project. 62nd Annual Meeting of The American Society of Human Genetics: 2012.
  • Zielhuis GA: Biobanking for epidemiology. Public Health 126(3): 214- 216.