Scientific publications


The Nijmegen Biomedical Study has resulted in a large number of scientific peer reviewed publications. Links to these publications can be found in this section.




1. Hoogendoorn EH et al. Thyroid function and prevalence of anti-thyroperoxidase antibodies in a population with borderline sufficient iodine intake: influences of age and sex. Clin Chem 2006; 52: 104-11.

2. Kiemeney LA et al. Polymorphisms in the E-cadherin (CDH1) gene promoter and the risk of bladder cancer. Eur J Cancer 2006; 42: 3219-27.


3. Armour JA et al. Accurate, high-throughput typing of copy number variation using paralogue ratios from dispersed repeats. Nucleic Acids Res 2007; 35: e19.

4. Gudmundsson J et al. Genome-wide association study identifies a second prostate cancer susceptibility variant at 8q24. Nat Genet 2007; 39: 631-7.

5. Gudmundsson J et al. Two variants on chromosome 17 confer prostate cancer risk, and the one in TCF2 protects against type 2 diabetes. Nat Genet 2007; 39: 977-83.

6. Jacobs EM et al. Morbidity and mortality in first-degree relatives of C282Y homozygous probands with clinically detected haemochromatosis compared with the general population: the HEmochromatosis FAmily Study (HEFAS). Neth J Med 2007; 65: 425-33.


7. Stacey SN et al. Common variants on chromosomes 2q35 and 16q12 confer susceptibility to estrogen receptor-positive breast cancer. Nat Genet 2007; 39: 865-9.

8. Sulem P et al. Genetic determinants of hair, eye and skin pigmentation in Europeans. Nat Genet 2007; 39: 1443-52.

9. Wetzels JF et al. Age- and gender-specific reference values of estimated GFR in Caucasians: the Nijmegen Biomedical Study. Kidney Int 2007; 72: 632-7.


10. Franke B et al. Association of the dopamine transporter (SLC6A3/DAT1) gene 9-6 haplotype with adult ADHD. Am J Med Genet B Neuropsychiatr Genet 2008; 147B: 1576-9.

11. Gilles R et al. Thyroid function in patients with proteinuria. Neth J Med 2008; 66: 483-5.

12. Gudbjartsson DF et al. Many sequence variants affecting diversity of adult human height. Nat Genet 2008; 40: 609-15.

13. Gudmundsson J et al. Common sequence variants on 2p15 and Xp11.22 confer susceptibility to prostate cancer. Nat Genet 2008; 40: 281-3.

14. Hollox EJ et al. Psoriasis is associated with increased beta-defensin genomic copy number. Nat Genet 2008; 40: 23-5.

15. Kiemeney LA et al. Sequence variant on 8q24 confers susceptibility to urinary bladder cancer. Nat Genet 2008; 40: 1307-12.

16. Stacey SN et al. Common variants on chromosome 5p12 confer susceptibility to estrogen receptor-positive breast cancer. Nat Genet 2008; 40: 703-6.

17. Stefansson H et al. Large recurrent microdeletions associated with schizophrenia. Nature 2008; 455: 232-6.

18. Sulem P et al. Two newly identified genetic determinants of pigmentation in Europeans. Nat Genet 2008; 40: 835-7.

19. Thorgeirsson TE et al. A variant associated with nicotine dependence, lung cancer and peripheral arterial disease. Nature 2008; 452: 638-42.

20. van Iersel MB et al. Executive functions are associated with gait and balance in community-living elderly people. J Gerontol A Biol Sci Med Sci 2008; 63: 1344-9.

21. Verhaegh GW et al. Polymorphisms in the H19 gene and the risk of bladder cancer. Eur Urol 2008; 54: 1118-26.

22. Wetzels JF et al. Age- and gender-specific reference values of estimated glomerular filtration rate in a Caucasian population: Results of the Nijmegen Biomedical Study. Kidney Int 2008; 73: 657-8.


23. de Cid R et al. Deletion of the late cornified envelope LCE3B and LCE3C genes as a susceptibility factor for psoriasis. Nat Genet 2009; 41: 211-5.

24. Gudmundsson J et al. Genome-wide association and replication studies identify four variants associated with prostate cancer susceptibility. Nat Genet 2009; 41: 1122-6.

25. Holewijn S et al. The metabolic syndrome and its traits as risk factors for subclinical atherosclerosis. J Clin Endocrinol Metab 2009; 94: 2893-9.

26. Holewijn S et al. Brachial artery diameter is related to cardiovascular risk factors and intima-media thickness. Eur J Clin Invest 2009; 39: 554-60.

27. Jansen PA et al. Beta-defensin-2 protein is a serum biomarker for disease activity in psoriasis and reaches biologically relevant concentrations in lesional skin. PLoS One 2009; 4: e4725.

28. Rafnar T et al. Sequence variants at the TERT-CLPTM1L locus associate with many cancer types. Nat Genet 2009; 41: 221-7.

29. Ross HA et al. Composite reference interval for thyroid-stimulating hormone and free thyroxine, comparison with common cutoff values, and reconsideration of subclinical thyroid disease. Clin Chem 2009; 55: 2019-25.

30. Rujescu D et al. Disruption of the neurexin 1 gene is associated with schizophrenia. Hum Mol Genet 2009; 18: 988-96.

31. Stacey SN et al. New common variants affecting susceptibility to basal cell carcinoma. Nat Genet 2009; 41: 909-14.

32. Stefansson H et al. Common variants conferring risk of schizophrenia. Nature 2009; 460: 744-7.

33. Sulem P et al. Genome-wide association study identifies sequence variants on 6q21 associated with age at menarche. Nat Genet 2009; 41: 734-8.

34. Thorleifsson G et al. Sequence variants in the CLDN14 gene associate with kidney stones and bone mineral density. Nat Genet 2009; 41: 926-30.

35. Thorleifsson G et al. Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity. Nat Genet 2009; 41: 18-24.

36. van Es MA et al. Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis. Nat Genet 2009; 41: 1083-7.

37. Wu X et al. Genetic variation in the prostate stem cell antigen gene PSCA confers susceptibility to urinary bladder cancer. Nat Genet 2009; 41: 991-5.


38. Blauw HM et al. A large genome scan for rare CNVs in amyotrophic lateral sclerosis. Hum Mol Genet 2010; 19: 4091-9.

39. Bolton KL et al. Common variants at 19p13 are associated with susceptibility to ovarian cancer. Nat Genet 2010; 42: 880-4.

40. Coenen MJ et al. Genetic variants in toll-like receptors are not associated with rheumatoid arthritis susceptibility or anti-tumour necrosis factor treatment outcome. PLoS One 2010; 5: e14326.

41. Cremers RG et al. Androgenic alopecia is not useful as an indicator of men at high risk of prostate cancer. Eur J Cancer 2010; 46: 3294-9.

42. Franke B et al. Multicenter Analysis of the SLC6A3/DAT1 VNTR Haplotype in Persistent ADHD Suggests Differential Involvement of the Gene in Childhood and Persistent ADHD. Neuropsychopharmacology 2010; 35: 656-64.

43. Goode EL et al. A genome-wide association study identifies susceptibility loci for ovarian cancer at 2q31 and 8q24. Nat Genet 2010; 42: 874-9.

44. Gretarsdottir S et al. Genome-wide association study identifies a sequence variant within the DAB2IP gene conferring susceptibility to abdominal aortic aneurysm. Nat Genet 2010; 42: 692-7.

45. Gudbjartsson DF et al. Association of variants at UMOD with chronic kidney disease and kidney stones-role of age and comorbid diseases. PLoS Genet 2010; 6: e1001039.

46. Gudmundsson J et al. Genetic correction of PSA values using sequence variants associated with PSA levels. Sci Transl Med 2010; 2: 62ra92.

47. Holewijn S et al. Apolipoprotein B, non-HDL cholesterol and LDL cholesterol for identifying individuals at increased cardiovascular risk. J Intern Med 2010; 268: 567-77. 

48. Holewijn S et al. Impact of waist circumference versus adiponectin level on subclinical atherosclerosis: a cross-sectional analysis in a sample from the general population. J Intern Med 2010; 267: 588-98.

49. Johansson S et al. Common variants in the TPH1 and TPH2 regions are not associated with persistent ADHD in a combined sample of 1,636 adult cases and 1,923 controls from four European populations. Am J Med Genet B Neuropsychiatr Genet 2010; 153B: 1008-15.

50. Kiemeney LA et al. A sequence variant at 4p16.3 confers susceptibility to urinary bladder cancer. Nat Genet 2010; 42: 415-9.

51. Landaas ET et al. An international multicenter association study of the serotonin transporter gene in persistent ADHD. Genes Brain Behav 2010; 9: 449-58.

52. Lango AH et al. Hundreds of variants clustered in genomic loci and biological pathways affect human height. Nature 2010; 467: 832-8.

53. Rothman N et al. A multi-stage genome-wide association study of bladder cancer identifies multiple susceptibility loci. Nat Genet 2010; 42: 978-84.

54. Sanchez-Mora C et al. Meta-analysis of brain-derived neurotrophic factor p.Val66Met in adult ADHD in four European populations. Am J Med Genet B Neuropsychiatr Genet 2010; 153B: 512-23.

55. Speliotes EK et al. Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. Nat Genet 2010; 42: 937-48.

56. Stacey SN et al. Ancestry-shift refinement mapping of the C6orf97-ESR1 breast cancer susceptibility locus. PLoS Genet 2010; 6: e1001029.

57. Thorgeirsson TE et al. Sequence variants at CHRNB3-CHRNA6 and CYP2A6 affect smoking behavior. Nat Genet 2010; 42: 448-53.

58. Truong T et al. Replication of lung cancer susceptibility loci at chromosomes 15q25, 5p15, and 6p21: a pooled analysis from the International Lung Cancer Consortium. J Natl Cancer Inst 2010; 102: 959-71.

59. van 't Leven M et al. Fatigue and chronic fatigue syndrome-like complaints in the general population. Eur J Public Health 2010; 20: 251-7.

60. van der Zanden LF et al. Genetics of Hypospadias: Are Single-Nucleotide Polymorphisms in SRD5A2, ESR1, ESR2, and ATF3 Really Associated with the Malformation? J Clin Endocrinol Metab 2010; 95: 2384-90.


61. Amankwah EK et al. Polymorphisms in stromal genes and susceptibility to serous epithelial ovarian cancer: a report from the ovarian cancer association consortium. PLoS One 2011; 6: e19642.

62. Atsma F et al. Cardiovascular and demographic characteristics in whole blood and plasma donors: results from the Donor InSight study. Transfusion 2011; 51: 412-20.

63. Atsma F, Veldhuizen I, Verbeek A, de Kort W, de Vegt F. Healthy donor effect: its magnitude in health research among blood donors. Transfusion. 2011;51(8):1820-1828.

64. Beesley J, Pickett HA, Johnatty SE, et al. Functional polymorphisms in the TERT promoter are associated with risk of serous epithelial ovarian and breast cancers. PLoS One. 2011;6(9):e24987.

65. Bown MJ et al. Abdominal aortic aneurysm is associated with a variant in low-density lipoprotein receptor-related protein 1. Am J Hum Genet 2011;89:619-27.

66. Bus BA et al. Depressive symptom clusters are differentially associated with atherosclerotic disease. Psychol Med 2011; 41: 1419-28.

67. Galesloot TE et al. Serum hepcidin: reference ranges and biochemical correlates in the general population. Blood 2011; 117: e218-25.

68. Holewijn S et al. Application and validation of a diagnostic algorithm for the atherogenic apoB dyslipoproteinemias: ApoB dyslipoproteinemias in a Dutch population-based study. Eur J Clin Invest 2011; 41: 423-33.

69. Holm H et al. A rare variant in MYH6 is associated with high risk of sick sinus syndrome. Nat Genet 2011; 43: 316-20.

70. Ingason A et al. Maternally Derived Microduplications at 15q11-q13: Implication of Imprinted Genes in Psychotic Illness. Am J Psychiatry 2011; 168: 408-17.

71. Ingason A et al. Copy number variations of chromosome 16p13.1 region associated with schizophrenia. Mol Psychiatry 2011; 16: 17-25.

72. Kok DE, van Roermund JG, Aben KK, et al. Blood lipid levels and prostate cancer risk; a cohort study. Prostate Cancer Prostatic Dis. 2011;14(4):340-345.

73. Marijnissen RM et al. Depressive symptom clusters are differentially associated with general and visceral obesity. J Am Geriatr Soc 2011; 59: 67-72.

74. Medici M et al. A large-scale association analysis of 68 thyroid hormone pathway genes with serum TSH and FT4 levels. Eur J Endocrinol 2011; 164: 781-8.

75. Pharoah PD et al. The role of KRAS rs61764370 in invasive epithelial ovarian cancer: implications for clinical testing. Clin Cancer Res 2011; 17: 3742-50.

76. Purdue MP et al. Genome-wide association study of renal cell carcinoma identifies two susceptibility loci on 2p21 and 11q13.3. Nat Genet 2011; 43: 60-5.

77. Rafnar T et al. Genome-Wide Significant Association Between a Sequence Variant at 15q15.2 and Lung Cancer Risk. Cancer Res 2011; 71: 1356-61.

78. Rafnar T, Vermeulen SH, Sulem P, et al. European genome-wide association study identifies SLC14A1 as a new urinary bladder cancer susceptibility gene. Hum Mol Genet. 2011;20(21):4268-4281.


79. Reif A, Nguyen TT, Weissflog L, et al. DIRAS2 is associated with adult ADHD, related traits, and co-morbid disorders. Neuropsychopharmacology. 2011;36(11):2318-2327.

80. Rodriguez-Rodriguez L et al. The PTPN22 R263Q polymorphism is a risk factor for rheumatoid arthritis in caucasian case-control samples. Arthritis Rheum 2011; 63: 365-72.

81. Sanchez-Mora C et al. Exploring DRD4 and its interaction with SLC6A3 as possible risk factors for adult ADHD: A meta-analysis in four European populations. Am J Med Genet B Neuropsychiatr Genet 2011; 156: 600-12.

82. Stanescu HC et al. Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy. N Engl J Med 2011; 364: 616-26.

83. Steinberg S et al. Expanding the range of ZNF804A variants conferring risk of psychosis. Mol Psychiatry 2011; 16: 59-66.

84. Sulem P et al. Sequence variants at CYP1A1-CYP1A2 and AHR associate with coffee consumption. Hum Mol Genet 2011; 20: 2071-7.

85. van den Brand JA, van Boekel GA, Willems HL, Kiemeney LA, den Heijer M, Wetzels JF. Introduction of the CKD-EPI equation to estimate glomerular filtration rate in a Caucasian population. Nephrol Dial Transplant. 2011;26(10):3176-3181.


86. van de Ven AC, Netea-Maier RT, Medici M, et al. Underestimation of effect of thyroid function parameters on morbidity and mortality due to intra-individual variation. J Clin Endocrinol Metab. 2011;96(12):E2014-2017.


87. van der Zanden LF et al. Common variants in DGKK are strongly associated with risk of hypospadias. Nat Genet 2011; 43: 48-50.


88. Wouts L et al. The interaction between cerebrovascular disease and neuroticism in late-life depression: a cross-sectional study. Int J Geriatr Psychiatry 2011; 26: 702-10.



89. Amin N, Byrne E, Johnson J, et al. Genome-wide association analysis of coffee drinking suggests association with CYP1A1/CYP1A2 and NRCAM. Mol Psychiatry. 2012;17(11):1116-1129.


90. Bergboer JG, Umicevic-Mirkov M, Fransen J, et al. A replication study of the association between rheumatoid arthritis and deletion of the late cornified envelope genes LCE3B and LCE3C. PLoS One. 2012;7(2):e32045.


91. Boraska V, Jeroncic A, Colonna V, et al. Genome-wide meta-analysis of common variant differences between men and women. Hum Mol Genet. 2012;21(21):4805-4815.


92. Bus BA, Tendolkar I, Franke B, et al. Serum brain-derived neurotrophic factor: determinants and relationship with depressive symptoms in a community population of middle-aged and elderly people. World J Biol Psychiatry. 2012;13(1):39-47.


93. Cote ML, Liu M, Bonassi S, et al. Increased risk of lung cancer in individuals with a family history of the disease: a pooled analysis from the International Lung Cancer Consortium. Eur J Cancer. 2012;48(13):1957-1968.


94. Gudmundsson J, Sulem P, Gudbjartsson DF, et al. Discovery of common variants associated with low TSH levels and thyroid cancer risk. Nat Genet. 2012;44(3):319-322.


95. Gudmundsson J, Sulem P, Gudbjartsson DF, et al. A study based on whole-genome sequencing yields a rare variant at 8q24 associated with prostate cancer. Nat Genet. 2012;44(12):1326-1329.


96. Huijbers A, Plantinga TS, Joosten LA, et al. The effect of the ATG16L1 Thr300Ala polymorphism on susceptibility and outcome of patients with epithelial cell-derived thyroid carcinoma. Endocr Relat Cancer. 2012;19(3):L15-18.


97. Kloss-Brandstatter A, Erhart G, Lamina C, et al. Candidate gene sequencing of SLC11A2 and TMPRSS6 in a family with severe anaemia: common SNPs, rare haplotypes, no causative mutation. PLoS One. 2012;7(4):e35015.


98. Li R, Brockschmidt FF, Kiefer AK, et al. Six novel susceptibility Loci for early-onset androgenetic alopecia and their unexpected association with common diseases. PLoS Genet. 2012;8(5):e1002746.


99. Lu Y, Chen X, Beesley J, et al. Genome-wide association study for ovarian cancer susceptibility using pooled DNA. Twin Res Hum Genet. 2012;15(5):615-623.


100. Luciano M, Huffman JE, Arias-Vasquez A, et al. Genome-wide association uncovers shared genetic effects among personality traits and mood states. Am J Med Genet B Neuropsychiatr Genet. 2012;159B(6):684-695.


101. Manjarrez-Orduno N, Marasco E, Chung SA, et al. CSK regulatory polymorphism is associated with systemic lupus erythematosus and influences B-cell signaling and activation. Nat Genet. 2012;44(11):1227-1230.


102. Murabito JM, White CC, Kavousi M, et al. Association between chromosome 9p21 variants and the ankle-brachial index identified by a meta-analysis of 21 genome-wide association studies. Circ Cardiovasc Genet. 2012;5(1):100-112.


103. Ros MM, Gago-Dominguez M, Aben KK, et al. Personal hair dye use and the risk of bladder cancer: a case-control study from The Netherlands. Cancer Causes Control. 2012;23(7):1139-1148.


104. Steinberg S, de Jong S, Mattheisen M, et al. Common variant at 16p11.2 conferring risk of psychosis. Mol Psychiatry. 2012.


105. Urayama KY, Jarrett RF, Hjalgrim H, et al. Genome-wide association study of classical Hodgkin lymphoma and Epstein-Barr virus status-defined subgroups. J Natl Cancer Inst. 2012;104(3):240-253.


106. van de Ven AC, Muntjewerff JW, Netea-Maier RT, et al. Association between thyroid function, thyroid autoimmunity, and state and trait factors of depression. Acta Psychiatr Scand. 2012;126(5):377-384.


107. van de Ven AC, Netea-Maier RT, de Vegt F, et al. Is there a relationship between fatigue perception and the serum levels of thyrotropin and free thyroxine in euthyroid subjects? Thyroid. 2012;22(12):1236-1243.


108. Vassos E, Steinberg S, Cichon S, et al. Replication study and meta-analysis in European samples supports association of the 3p21.1 locus with bipolar disorder. Biol Psychiatry. 2012;72(8):645-650.


109. Yang J, Loos RJ, Powell JE, et al. FTO genotype is associated with phenotypic variability of body mass index. Nature. 2012;490(7419):267-272.



110. Berndt SI, Gustafsson S, Magi R, et al. Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. Nat Genet. 2013;45(5):501-512.


111. Bojesen SE, Pooley KA, Johnatty SE, et al. Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer. Nat Genet. 2013;45(4):371-384, 384e371-372.


112. Bradley DT, et al. A variant in LDLR is associated with abdominal aortic aneurysm. Circ Cardiovasc Genet. 2013;6(5):498-504.


113. Buizer-Voskamp JE, Blauw HM, Boks MP, et al. Increased paternal age and the influence on burden of genomic copy number variation in the general population. Hum Genet. 2013;132(4):443-450.


114. Carpentier PJ, Arias Vasquez A, Hoogman M, et al. Shared and unique genetic contributions to attention deficit/hyperactivity disorder and substance use disorders: A pilot study of six candidate genes. Eur Neuropsychopharmacol. 2013;23(6):448-457.


115. den Hoed M, Eijgelsheim M, Esko T, et al. Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders. Nat Genet. 2013;45(6):621-631.


116. Faber MT, Kjaer SK, Dehlendorff C, et al. Cigarette smoking and risk of ovarian cancer: a pooled analysis of 21 case-control studies. Cancer Causes Control. 2013;24(5):989-1004.


117. Galesloot TE, Geurts-Moespot AJ, den Heijer M, et al. Associations of common variants in HFE and TMPRSS6 with iron parameters are independent of serum hepcidin in a general population: a replication study. J Med Genet. 2013;50(9):593-598.


118. Gudmundsson J, et al. A common variant at 8q24.21 is associated with renal cell cancer. Nat Commun. 2013;4:2776. 


119. Harrison SC, Zabaneh D, Asselbergs FW, et al. A gene-centric study of common carotid artery remodelling. Atherosclerosis. 2013;226(2):440-446.


120. Heilmann S, Kiefer AK, Fricker N, et al. Androgenetic alopecia: identification of four genetic risk loci and evidence for the contribution of WNT signaling to its etiology. J Invest Dermatol. 2013;133(6):1489-1496.


121. Heilmann S, Nyholt DR, Brockschmidt FF, et al. No genetic support for a contribution of prostaglandins to the aetiology of androgenetic alopecia. Br J Dermatol. 2013;169(1):222-224.


122. Helgason H, et al. A rare nonsynonymous sequence variant in C3 is associated with high risk of age-related macular degeneration. Nat genet. 2013;45(11):1371-4.


123. Holewijn S, den Heijer M, Kiemeney LA, Stalenhoef AF, de Graaf J. Combining risk markers improves cardiovascular risk prediction in women. Clin Sci (Lond). 2013.


124. Hu YJ, Berndt SI, Gustafsson S, et al. Meta-analysis of Gene-Level Associations for Rare Variants Based on Single-Variant Statistics. Am J Hum Genet. 2013.


125. Iles MM, Law MH, Stacey SN, et al. A variant in FTO shows association with melanoma risk not due to BMI. Nat Genet. 2013;45(4):428-432, 432e421.


126. Marijnissen RM, Bus BA, Schoevers RA, et al. Atherosclerosis Decreases the Impact of Neuroticism in Late-Life Depression: Hypothesis of Vascular Apathy. Am J Geriatr Psychiatry. 2013;


127. Marijnissen RM, et al. Association between metabolic syndrome and depressive symptom profiles--sex-specific? J Affect Disord. 2013;151(3):1138-42.


128. Pearce CL, Rossing MA, Lee AW, et al. Combined and interactive effects of environmental and GWAS-identified risk factors in ovarian cancer. Cancer Epidemiol Biomarkers Prev. 2013;22(5):880-890.


129. Peffer K, den Heijer M, Holewijn S, et al. The effect of frequent whole blood donation on ferritin, hepcidin, and subclinical atherosclerosis. Transfusion. 2013;53(7):1468-1474.


130. Permuth-Wey J, Lawrenson K, Shen HC, et al. Identification and molecular characterization of a new ovarian cancer susceptibility locus at 17q21.31. Nat Commun. 2013;4:1627.


131. Pharoah PD, Tsai YY, Ramus SJ, et al. GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer. Nat Genet. 2013;45(4):362-370, 370e361-362.


132. Porcu E, Medici M, Pistis G, et al. A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function. PLoS Genet. 2013;9(2):e1003266.


133. Randall JC, Winkler TW, Kutalik Z, et al. Sex-stratified genome-wide association studies including 270,000 individuals show sexual dimorphism in genetic loci for anthropometric traits. PLoS Genet. 2013;9(6):e1003500.


134. Shen H, Fridley BL, Song H, et al. Epigenetic analysis leads to identification of HNF1B as a subtype-specific susceptibility gene for ovarian cancer. Nat Commun. 2013;4:1628.


135. Sieh W, Salvador S, McGuire V, et al. Tubal ligation and risk of ovarian cancer subtypes: a pooled analysis of case-control studies. Int J Epidemiol. 2013;42(2):579-589.


136. van Meurs JB, Pare G, Schwartz SM, et al. Common genetic loci influencing plasma homocysteine concentrations and their effect on risk of coronary artery disease. Am J Clin Nutr. 2013.


137. van 't Hof FN, Ruigrok YM, Baas AF, et al. Impact of inherited genetic variants associated with lipid profile, hypertension, and coronary artery disease on the risk of intracranial and abdominal aortic aneurysms. Circ Cardiovasc Genet. 2013;6(3):264-270.


138. Vimaleswaran KS, Berry DJ, Lu C, et al. Causal relationship between obesity and vitamin D status: bi-directional Mendelian randomization analysis of multiple cohorts. PLoS Med. 2013;10(2):e1001383.




139. Benyamin B, Esko T, Ried JS, Radhakrishnan A, Vermeulen SH, Traglia M, et al. Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis. Nature communications. 2014;5:4926.


140. Charbonneau B, Block MS, Bamlet WR, Vierkant RA, Kalli KR, Fogarty Z, et al. Risk of ovarian cancer and the NF-kappaB pathway: genetic association with IL1A and TNFSF10. Cancer research. 2014;74(3):852-61.


141. Cremers RG, Aben KK, Vermeulen SH, den Heijer M, van Oort IM, van de Kerkhof PC, et al. Self-reported acne is not associated with prostate cancer. Urologic oncology. 2014;32(7):941-5.


142. Earp MA, Kelemen LE, Magliocco AM, Swenerton KD, Chenevix-Trench G, Australian Cancer S, et al. Genome-wide association study of subtype-specific epithelial ovarian cancer risk alleles using pooled DNA. Human genetics. 2014;133(5):481-97.


143. Foroud T, Lai D, Koller D, Van't Hof F, Kurki MI, Anderson CS, et al. Genome-wide association study of intracranial aneurysm identifies a new association on chromosome 7. Stroke; a journal of cerebral circulation. 2014;45(11):3194-9.


144. Galesloot TE, Holewijn S, Kiemeney LA, de Graaf J, Vermeulen SH, Swinkels DW. Serum hepcidin is associated with presence of plaque in postmenopausal women of a general population. Arteriosclerosis, thrombosis, and vascular biology. 2014;34(2):446-56.  


145. Holewijn S, den Heijer M, Kiemeney LA, Stalenhoef AF, de Graaf J. Combining risk markers improves cardiovascular risk prediction in women. Clinical science. 2014;126(2):139-46.


146. Kelemen LE, Terry KL, Goodman MT, Webb PM, Bandera EV, McGuire V, et al. Consortium analysis of gene and gene-folate interactions in purine and pyrimidine metabolism pathways with ovarian carcinoma risk. Molecular nutrition & food research. 2014;58(10):2023-35.


147. Kurki MI, Gaal EI, Kettunen J, Lappalainen T, Menelaou A, Anttila V, et al. High risk population isolate reveals low frequency variants predisposing to intracranial aneurysms. PLoS genetics. 2014;10(1):e1004134.


148. Medici M, Porcu E, Pistis G, Teumer A, Brown SJ, Jensen RA, et al. Identification of novel genetic Loci associated with thyroid peroxidase antibodies and clinical thyroid disease. PLoS genetics. 2014;10(2):e1004123.


149. Rafnar T, Sulem P, Thorleifsson G, Vermeulen SH, Helgason H, Saemundsdottir J, et al. Genome-wide association study yields variants at 20p12.2 that associate with urinary bladder cancer. Human molecular genetics. 2014;23(20):5545-57.  


150. Steinberg S, de Jong S, Mattheisen M, Costas J, Demontis D, Jamain S, et al. Common variant at 16p11.2 conferring risk of psychosis. Molecular psychiatry. 2014;19(1):108-14.


151. van de Ven AC, Netea-Maier RT, de Vegt F, Ross HA, Sweep FC, Kiemeney LA, et al. Associations between thyroid function and mortality: the influence of age. European journal of endocrinology / European Federation of Endocrine Societies. 2014;171(2):183-91.  


152. van de Ven AC, Netea-Maier RT, Ross HA, van Herwaarden TA, Holewijn S, de Graaf J, et al. Longitudinal trends in thyroid function in relation to iodine intake: ongoing changes of thyroid function despite adequate current iodine status. European journal of endocrinology / European Federation of Endocrine Societies. 2014;170(1):49-54.


153. van den Berg SM, de Moor MH, McGue M, Pettersson E, Terracciano A, Verweij KJ, et al. Harmonization of Neuroticism and Extraversion phenotypes across inventories and cohorts in the Genetics of Personality Consortium: an application of Item Response Theory. Behavior genetics. 2014;44(4):295-313.


154. Wang C, Yuan X, Ma E, Mendonsa GR, Plantinga TS, Kiemeney LA, et al. NOD2 is dispensable for ATG16L1 deficiency-mediated resistance to urinary tract infection. Autophagy. 2014;10(2):331-8.  


155. Wood AR, Esko T, Yang J, Vedantam S, Pers TH, Gustafsson S, et al. Defining the role of common variation in the genomic and biological architecture of adult human height. Nature genetics. 2014;46(11):1173-86.




156. Bossini-Castillo L, de Kovel C, Kallberg H, van 't Slot R, Italiaander A, Coenen M, et al. A genome-wide association study of rheumatoid arthritis without antibodies against citrullinated peptides. Annals of the rheumatic diseases. 2015;74(3):e15.


157. Cremers RG, Galesloot TE, Aben KK, van Oort IM, Vasen HF, Vermeulen SH, et al. Known susceptibility SNPs for sporadic prostate cancer show a similar association with "hereditary" prostate cancer. The Prostate. 2015;75(5):474-83.


158. Diogo D, Bastarache L, Liao KP, Graham RR, Fulton RS, Greenberg JD, et al. TYK2 protein-coding variants protect against rheumatoid arthritis and autoimmunity, with no evidence of major pleiotropic effects on non-autoimmune complex traits. PLoS One. 2015;10(4):e0122271.


159. Galesloot TE, Janss LL, Burgess S, Kiemeney LA, den Heijer M, de Graaf J, et al. Iron and hepcidin as risk factors in atherosclerosis: what do the genes say? BMC Genetics 2015;16:79.


160. Gretarsdottir S, Helgason H, Helgadottir A, Sigurdsson A, Thorleifsson G, Magnusdottir A, et al. A Splice Region Variant in LDLR Lowers Non-high Density Lipoprotein Cholesterol and Protects against Coronary Artery Disease. PLoS Genetics.;11(9):e1005379.


161. Locke AE, Kahali B, Berndt SI, Justice AE, Pers TH, Day FR, et al. Genetic studies of body mass index yield new insights for obesity biology. Nature. 2015;518(7538):197-206.  


162. Pers TH, Karjalainen JM, Chan Y, Westra HJ, Wood AR, Yang J, et al. Biological interpretation of genome-wide association studies using predicted gene functions. Nature communications. 2015;6:5890.


163. Power RA, Steinberg S, Bjornsdottir G, Rietveld CA, Abdellaoui A, Nivard MM, et al. Polygenic risk scores for schizophrenia and bipolar disorder predict creativity. Nature Neuroscience 2015;18(7):953-5.


164. Vermeulen SH, Hanum N, Grotenhuis AJ, Castano-Vinyals G, van der Heijden AG, Aben KK, et al. Recurrent urinary tract infection and risk of bladder cancer in the Nijmegen bladder cancer study. British journal of cancer. 2015;112(3):594-600. 


165. Winkler TW, Justice AE, Graff M, Barata L, Feitosa MF, Chu S, et al. The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study. PLoS Genetics. 2015;11(10):e1005378. 




166. Figueroa JD, Middlebrooks CD, Banday AR, Ye Y, Garcia-Closas M, Chatterjee N, et al. Identification of a novel susceptibility locus at 13q34 and refinement of the 20p12.2 region as a multi-signal locus associated with bladder cancer risk in individuals of European ancestry. Human Molecular Genetics. 2016;25(6):1203-14.


167. Helgadottir A, Gretarsdottir S, Thorleifsson G, Hjartarson E, Sigurdsson A, Magnusdottir A, et al. Variants with large effects on blood lipids and the role of cholesterol and triglycerides in coronary disease. Nature Genetics. 2016;48(6):634-9.


168. Nioi P, Sigurdsson A, Thorleifsson G, Helgason H, Agustsdottir AB, Norddahl GL, et al. Variant ASGR1 Associated with a Reduced Risk of Coronary Artery Disease. New England Journal of Medicine. 2016;374(22):2131-41.


169. Okbay A, Beauchamp JP, Fontana MA, Lee JJ, Pers TH, Rietveld CA, et al. Genome-wide association study identifies 74 loci associated with educational attainment. Nature. 2016;533(7604):539-42.


170. Stacey SN, Kehr B, Gudmundsson J, Zink F, Jonasdottir A, Gudjonsson SA, et al. Insertion of an SVA-E retrotransposon into the CASP8 gene is associated with protection against prostate cancer. Human Molecular Genetics. 2016;25(5):1008-18.


171. van der Vorm LN, van Meijel LJ, Lips J, Galesloot TE, Laarakkers CM, Swinkels DW. Underestimation of hepcidin concentration by time of flight mass spectrometry and competitive ELISA in hepcidin p.Gly71Asp heterozygotes. Clin Chem Lab Med. 2016;54(5):e173-6.