Publications

  1. Evangelou, E, Warren, HR, Mosen-Ansorena, D, Mifsud, B, Pazoki, R, Gao, H, Ntritsos, G, Dimou, N et al. (2018). Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits.. Nat. Genet. 50 (10):1412-1425. doi: 10.1038/s41588-018-0205-x. PubMed PMID:30224653 .
  2. van der Velde, KJ, Imhann, F, Charbon, B, Pang, C, van Enckevort, D, Slofstra, M, Barbieri, R, Alberts, R et al. (2018). MOLGENIS Research: Advanced bioinformatics data software for non-bioinformaticians.. Bioinformatics. :. doi: 10.1093/bioinformatics/bty742. PubMed PMID:30165396 .
  3. Engwerda, A, Frentz, B, den Ouden, AL, Flapper, BCT, Swertz, MA, Gerkes, EH, Plantinga, M, Dijkhuizen, T et al. (2018). The phenotypic spectrum of proximal 6q deletions based on a large cohort derived from social media and literature reports.. Eur. J. Hum. Genet. 26 (10):1478-1489. doi: 10.1038/s41431-018-0172-9. PubMed PMID:29904178 PubMed Central PMC6138703.
  4. van der Wijst, MGP, Brugge, H, de Vries, DH, Deelen, P, Swertz, MA, LifeLines Cohort Study, BIOS Consortium, Franke, L et al. (2018). Single-cell RNA sequencing identifies celltype-specific cis-eQTLs and co-expression QTLs.. Nat. Genet. 50 (4):493-497. doi: 10.1038/s41588-018-0089-9. PubMed PMID:29610479 PubMed Central PMC5905669.
  5. Van Gijn, ME, Ceccherini, I, Shinar, Y, Carbo, EC, Slofstra, M, Arostegui, JI, Sarrabay, G, Rowczenio, D et al. (2018). New workflow for classification of genetic variants' pathogenicity applied to hereditary recurrent fevers by the International Study Group for Systemic Autoinflammatory Diseases (INSAID).. J. Med. Genet. 55 (8):530-537. doi: 10.1136/jmedgenet-2017-105216. PubMed PMID:29599418 .
  6. van Zon, SKR, Reijneveld, SA, van der Most, PJ, Swertz, MA, Bültmann, U, Snieder, H (2018). The Interaction of Genetic Predisposition and Socioeconomic Position With Type 2 Diabetes Mellitus: Cross-Sectional and Longitudinal Analyses From the Lifelines Cohort and Biobank Study.. Psychosom Med. 80 (3):252-262. doi: 10.1097/PSY.0000000000000562. PubMed PMID:29381659 .
  7. Dhekne, HS, Pylypenko, O, Overeem, AW, Ferreira, RJ, van der Velde, KJ, Rings, EHHM, Posovszky, C, Swertz, MA et al. (2018). MYO5B, STX3, and STXBP2 mutations reveal a common disease mechanism that unifies a subset of congenital diarrheal disorders: A mutation update.. Hum. Mutat. 39 (3):333-344. doi: 10.1002/humu.23386. PubMed PMID:29266534 PubMed Central PMC5838515.
  8. Stolle, S, Ciapaite, J, Reijne, AC, Talarovicova, A, Wolters, JC, Aguirre-Gamboa, R, van der Vlies, P, de Lange, K et al. (2018). Running-wheel activity delays mitochondrial respiratory flux decline in aging mouse muscle via a post-transcriptional mechanism.. Aging Cell. 17 (1):. doi: 10.1111/acel.12700. PubMed PMID:29120091 PubMed Central PMC5770778.
  9. Pang, C, Kelpin, F, van Enckevort, D, Eklund, N, Silander, K, Hendriksen, D, de Haan, M, Jetten, J et al. (2017). BiobankUniverse: automatic matchmaking between datasets for biobank data discovery and integration.. Bioinformatics. 33 (22):3627-3634. doi: 10.1093/bioinformatics/btx478. PubMed PMID:29036577 PubMed Central PMC5870622.
  10. Macé, A, Tuke, MA, Deelen, P, Kristiansson, K, Mattsson, H, Nõukas, M, Sapkota, Y, Schick, U et al. (2017). CNV-association meta-analysis in 191,161 European adults reveals new loci associated with anthropometric traits.. Nat Commun. 8 (1):744. doi: 10.1038/s41467-017-00556-x. PubMed PMID:28963451 PubMed Central PMC5622064.
  11. van Diemen, CC, Kerstjens-Frederikse, WS, Bergman, KA, de Koning, TJ, Sikkema-Raddatz, B, van der Velde, JK, Abbott, KM, Herkert, JC et al. (2017). Rapid Targeted Genomics in Critically Ill Newborns.. Pediatrics. 140 (4):. doi: 10.1542/peds.2016-2854. PubMed PMID:28939701 .
  12. Johansson, LF, de Boer, EN, de Weerd, HA, van Dijk, F, Elferink, MG, Schuring-Blom, GH, Suijkerbuijk, RF, Sinke, RJ et al. (2017). Novel Algorithms for Improved Sensitivity in Non-Invasive Prenatal Testing.. Sci Rep. 7 (1):1838. doi: 10.1038/s41598-017-02031-5. PubMed PMID:28500333 PubMed Central PMC5431782.
  13. Justice, AE, Winkler, TW, Feitosa, MF, Graff, M, Fisher, VA, Young, K, Barata, L, Deng, X et al. (2017). Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits.. Nat Commun. 8 :14977. doi: 10.1038/ncomms14977. PubMed PMID:28443625 PubMed Central PMC5414044.
  14. Nolte, IM, van der Most, PJ, Alizadeh, BZ, de Bakker, PI, Boezen, HM, Bruinenberg, M, Franke, L, van der Harst, P et al. (2017). Missing heritability: is the gap closing? An analysis of 32 complex traits in the Lifelines Cohort Study.. Eur. J. Hum. Genet. 25 (7):877-885. doi: 10.1038/ejhg.2017.50. PubMed PMID:28401901 PubMed Central PMC5520063.
  15. Zych, K, Snoek, BL, Elvin, M, Rodriguez, M, Van der Velde, KJ, Arends, D, Westra, HJ, Swertz, MA et al. (2017). reGenotyper: Detecting mislabeled samples in genetic data.. PLoS ONE. 12 (2):e0171324. doi: 10.1371/journal.pone.0171324. PubMed PMID:28192439 PubMed Central PMC5305221.
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Genome of the Netherlands

  1. Sohail, M, Vakhrusheva, OA, Sul, JH, Pulit, SL, Francioli, LC, Genome of the Netherlands Consortium, Alzheimer’s Disease Neuroimaging Initiative, van den Berg, LH et al. (2017). Negative selection in humans and fruit flies involves synergistic epistasis.. Science. 356 (6337):539-542. doi: 10.1126/science.aah5238. PubMed PMID:28473589 .
  2. Francioli, LC, Cretu-Stancu, M, Garimella, KV, Fromer, M, Kloosterman, WP, Genome of the Netherlands consortium, Samocha, KE, Neale, BM et al. (2017). A framework for the detection of de novo mutations in family-based sequencing data.. Eur. J. Hum. Genet. 25 (2):227-233. doi: 10.1038/ejhg.2016.147. PubMed PMID:27876817 PubMed Central PMC5255947.
  3. Hehir-Kwa, JY, Marschall, T, Kloosterman, WP, Francioli, LC, Baaijens, JA, Dijkstra, LJ, Abdellaoui, A, Koval, V et al. (2016). A high-quality human reference panel reveals the complexity and distribution of genomic structural variants.. Nat Commun. 7 :12989. doi: 10.1038/ncomms12989. PubMed PMID:27708267 PubMed Central PMC5059695.
  4. van den Akker, EB, Pitts, SJ, Deelen, J, Moed, MH, Potluri, S, van Rooij, J, Suchiman, HE, Lakenberg, N et al. (2016). Uncompromised 10-year survival of oldest old carrying somatic mutations in DNMT3A and TET2.. Blood. 127 (11):1512-5. doi: 10.1182/blood-2015-12-685925. PubMed PMID:26825711 PubMed Central PMC4797027.
  5. Palamara, PF, Francioli, LC, Wilton, PR, Genovese, G, Gusev, A, Finucane, HK, Sankararaman, S, Genome of the Netherlands Consortium et al. (2015). Leveraging Distant Relatedness to Quantify Human Mutation and Gene-Conversion Rates.. Am. J. Hum. Genet. 97 (6):775-89. doi: 10.1016/j.ajhg.2015.10.006. PubMed PMID:26581902 PubMed Central PMC4678427.
  6. van Leeuwen, EM, Kanterakis, A, Deelen, P, Kattenberg, MV, Genome of the Netherlands Consortium, Slagboom, PE, de Bakker, PI, Wijmenga, C et al. (2015). Population-specific genotype imputations using minimac or IMPUTE2.. Nat Protoc. 10 (9):1285-96. doi: 10.1038/nprot.2015.077. PubMed PMID:26226460 .
  7. Minică, CC, Dolan, CV, Hottenga, JJ, Pool, R, Genome of the Netherlands Consortium, Fedko, IO, Mbarek, H, Huppertz, C et al. (2015). Heritability, SNP- and Gene-Based Analyses of Cannabis Use Initiation and Age at Onset.. Behav. Genet. 45 (5):503-13. doi: 10.1007/s10519-015-9723-9. PubMed PMID:25987507 PubMed Central PMC4561059.
  8. Francioli, LC, Polak, PP, Koren, A, Menelaou, A, Chun, S, Renkens, I, Genome of the Netherlands Consortium, van Duijn, CM et al. (2015). Genome-wide patterns and properties of de novo mutations in humans.. Nat. Genet. 47 (7):822-826. doi: 10.1038/ng.3292. PubMed PMID:25985141 PubMed Central PMC4485564.
  9. van Leeuwen, EM, Karssen, LC, Deelen, J, Isaacs, A, Medina-Gomez, C, Mbarek, H, Kanterakis, A, Trompet, S et al. (2015). Genome of The Netherlands population-specific imputations identify an ABCA6 variant associated with cholesterol levels.. Nat Commun. 6 :6065. doi: 10.1038/ncomms7065. PubMed PMID:25751400 PubMed Central PMC4366498.
  10. Genome of the Netherlands Consortium (2014). Whole-genome sequence variation, population structure and demographic history of the Dutch population.. Nat. Genet. 46 (8):818-25. doi: 10.1038/ng.3021. PubMed PMID:24974849 .
  11. Kiezun, A, Pulit, SL, Francioli, LC, van Dijk, F, Swertz, M, Boomsma, DI, van Duijn, CM, Slagboom, PE et al. (2013). Deleterious alleles in the human genome are on average younger than neutral alleles of the same frequency.. PLoS Genet. 9 (2):e1003301. doi: 10.1371/journal.pgen.1003301. PubMed PMID:23468643 PubMed Central PMC3585140.
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LifeLines

  1. Zhernakova, DV, Le, TH, Kurilshikov, A, Atanasovska, B, Bonder, MJ, Sanna, S, Claringbould, A, Võsa, U et al. (2018). Author Correction: Individual variations in cardiovascular-disease-related protein levels are driven by genetics and gut microbiome.. Nat. Genet. :. doi: 10.1038/s41588-018-0275-9. PubMed PMID:30341443 .
  2. Zhernakova, DV, Le, TH, Kurilshikov, A, Atanasovska, B, Bonder, MJ, Sanna, S, Claringbould, A, Võsa, U et al. (2018). Individual variations in cardiovascular-disease-related protein levels are driven by genetics and gut microbiome.. Nat. Genet. :. doi: 10.1038/s41588-018-0224-7. PubMed PMID:30250126 .
  3. van der Wijst, MGP, Brugge, H, de Vries, DH, Deelen, P, Swertz, MA, LifeLines Cohort Study, BIOS Consortium, Franke, L et al. (2018). Single-cell RNA sequencing identifies celltype-specific cis-eQTLs and co-expression QTLs.. Nat. Genet. 50 (4):493-497. doi: 10.1038/s41588-018-0089-9. PubMed PMID:29610479 PubMed Central PMC5905669.
  4. Sung, YJ, Winkler, TW, de Las Fuentes, L, Bentley, AR, Brown, MR, Kraja, AT, Schwander, K, Ntalla, I et al. (2018). A Large-Scale Multi-ancestry Genome-wide Study Accounting for Smoking Behavior Identifies Multiple Significant Loci for Blood Pressure.. Am. J. Hum. Genet. 102 (3):375-400. doi: 10.1016/j.ajhg.2018.01.015. PubMed PMID:29455858 PubMed Central PMC5985266.
  5. Ferreira, MA, Vonk, JM, Baurecht, H, Marenholz, I, Tian, C, Hoffman, JD, Helmer, Q, Tillander, A et al. (2017). Shared genetic origin of asthma, hay fever and eczema elucidates allergic disease biology.. Nat. Genet. 49 (12):1752-1757. doi: 10.1038/ng.3985. PubMed PMID:29083406 PubMed Central PMC5989923.
  6. Wheeler, E, Leong, A, Liu, CT, Hivert, MF, Strawbridge, RJ, Podmore, C, Li, M, Yao, J et al. (2017). Impact of common genetic determinants of Hemoglobin A1c on type 2 diabetes risk and diagnosis in ancestrally diverse populations: A transethnic genome-wide meta-analysis.. PLoS Med. 14 (9):e1002383. doi: 10.1371/journal.pmed.1002383. PubMed PMID:28898252 PubMed Central PMC5595282.
  7. Robinson, MR, English, G, Moser, G, Lloyd-Jones, LR, Triplett, MA, Zhu, Z, Nolte, IM, van Vliet-Ostaptchouk, JV et al. (2017). Genotype-covariate interaction effects and the heritability of adult body mass index.. Nat. Genet. 49 (8):1174-1181. doi: 10.1038/ng.3912. PubMed PMID:28692066 .
  8. Day, FR, Thompson, DJ, Helgason, H, Chasman, DI, Finucane, H, Sulem, P, Ruth, KS, Whalen, S et al. (2017). Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk.. Nat. Genet. 49 (6):834-841. doi: 10.1038/ng.3841. PubMed PMID:28436984 PubMed Central PMC5841952.
  9. Warren, HR, Evangelou, E, Cabrera, CP, Gao, H, Ren, M, Mifsud, B, Ntalla, I, Surendran, P et al. (2017). Genome-wide association analysis identifies novel blood pressure loci and offers biological insights into cardiovascular risk.. Nat. Genet. 49 (3):403-415. doi: 10.1038/ng.3768. PubMed PMID:28135244 PubMed Central PMC5972004.
  10. Amini, M, Bashirova, D, Prins, BP, Corpeleijn, E, LifeLines Cohort Study, Bruinenberg, M, Franke, L, Harst, PV et al. (2016). Eosinophil Count Is a Common Factor for Complex Metabolic and Pulmonary Traits and Diseases: The LifeLines Cohort Study.. PLoS ONE. 11 (12):e0168480. doi: 10.1371/journal.pone.0168480. PubMed PMID:27978545 PubMed Central PMC5158313.
  11. Schmidt, AF, Swerdlow, DI, Holmes, MV, Patel, RS, Fairhurst-Hunter, Z, Lyall, DM, Hartwig, FP, Horta, BL et al. (2017). PCSK9 genetic variants and risk of type 2 diabetes: a mendelian randomisation study.. Lancet Diabetes Endocrinol. 5 (2):97-105. doi: 10.1016/S2213-8587(16)30396-5. PubMed PMID:27908689 PubMed Central PMC5266795.
  12. Okbay, A, Baselmans, BM, De Neve, JE, Turley, P, Nivard, MG, Fontana, MA, Meddens, SF, Linnér, RK et al. (2016). Corrigendum: Genetic variants associated with subjective well-being, depressive symptoms, and neuroticism identified through genome-wide analyses.. Nat. Genet. 48 (12):1591. doi: 10.1038/ng1216-1587b. PubMed PMID:27898078 PubMed Central PMC5509058.
  13. Barban, N, Jansen, R, de Vlaming, R, Vaez, A, Mandemakers, JJ, Tropf, FC, Shen, X, Wilson, JF et al. (2016). Genome-wide analysis identifies 12 loci influencing human reproductive behavior.. Nat. Genet. 48 (12):1462-1472. doi: 10.1038/ng.3698. PubMed PMID:27798627 PubMed Central PMC5695684.
  14. Elderson, MF, Pham, S, van Eersel, ME, LifeLines Cohort Study, Wolffenbuttel, BH, Kok, J, Gansevoort, RT, Tucha, O et al. . Agreement between Computerized and Human Assessment of Performance on the Ruff Figural Fluency Test.. PLoS ONE. 11 (9):e0163286. doi: 10.1371/journal.pone.0163286. PubMed PMID:27661083 PubMed Central PMC5035016.
  15. Surendran, P, Drenos, F, Young, R, Warren, H, Cook, JP, Manning, AK, Grarup, N, Sim, X et al. (2016). Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension.. Nat. Genet. 48 (10):1151-1161. doi: 10.1038/ng.3654. PubMed PMID:27618447 PubMed Central PMC5056636.
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