Publications

  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, Veldink, JH, de Bakker, PIW, Bazykin, GA, Kondrashov, AS, Sunyaev, SR. 2017. Negative selection in humans and fruit flies involves synergistic epistasis. Science 356:539-542.
  2. 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. 2017. A framework for the detection of de novo mutations in family-based sequencing data. Eur. J. Hum. Genet. 25:227-233.
  3. 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. 2016. A high-quality human reference panel reveals the complexity and distribution of genomic structural variants. Nat Commun 7:12989.
  4. van den Akker, EB, Pitts, SJ, Deelen, J, Moed, MH, Potluri, S, van Rooij, J, Suchiman, HE, Lakenberg, N, de Dijcker, WJ, Uitterlinden, AG, Kraaij, R, Hofman, A, de Craen, AJ, Houwing-Duistermaat, JJ, van Ommen, GJ, Genome of The Netherlands Consortium, Cox, DR, van Meurs, JB, Beekman, M, Reinders, MJ, Slagboom, PE. 2016. Uncompromised 10-year survival of oldest old carrying somatic mutations in DNMT3A and TET2. Blood 127:1512-5.
  5. Palamara, PF, Francioli, LC, Wilton, PR, Genovese, G, Gusev, A, Finucane, HK, Sankararaman, S, Genome of the Netherlands Consortium, Sunyaev, SR, de Bakker, PI, Wakeley, J, Pe'er, I, Price, AL. 2015. Leveraging Distant Relatedness to Quantify Human Mutation and Gene-Conversion Rates. Am. J. Hum. Genet. 97:775-89.
  6. van Leeuwen, EM, Kanterakis, A, Deelen, P, Kattenberg, MV, Genome of the Netherlands Consortium, Slagboom, PE, de Bakker, PI, Wijmenga, C, Swertz, MA, Boomsma, DI, van Duijn, CM, Karssen, LC, Hottenga, JJ. 2015. Population-specific genotype imputations using minimac or IMPUTE2. Nat Protoc 10:1285-96.
  7. Minică, CC, Dolan, CV, Hottenga, JJ, Pool, R, Genome of the Netherlands Consortium, Fedko, IO, Mbarek, H, Huppertz, C, Bartels, M, Boomsma, DI, Vink, JM. 2015. Heritability, SNP- and Gene-Based Analyses of Cannabis Use Initiation and Age at Onset. Behav. Genet. 45:503-13.
  8. Francioli, LC, Polak, PP, Koren, A, Menelaou, A, Chun, S, Renkens, I, Genome of the Netherlands Consortium, van Duijn, CM, Swertz, M, Wijmenga, C, van Ommen, G, Slagboom, PE, Boomsma, DI, Ye, K, Guryev, V, Arndt, PF, Kloosterman, WP, de Bakker, PIW, Sunyaev, SR. 2015. Genome-wide patterns and properties of de novo mutations in humans. Nat. Genet. 47:822-826.
  9. van Leeuwen, EM, Karssen, LC, Deelen, J, Isaacs, A, Medina-Gomez, C, Mbarek, H, Kanterakis, A, Trompet, S, Postmus, I, Verweij, N, van Enckevort, DJ, Huffman, JE, White, CC, Feitosa, MF, Bartz, TM, Manichaikul, A, Joshi, PK, Peloso, GM, Deelen, P, van Dijk, F, Willemsen, G, de Geus, EJ, Milaneschi, Y, Penninx, BW, Francioli, LC, Menelaou, A, Pulit, SL, Rivadeneira, F, Hofman, A, Oostra, BA, Franco, OH, Mateo Leach, I, Beekman, M, de Craen, AJ, Uh, HW, Trochet, H, Hocking, LJ, Porteous, DJ, Sattar, N, Packard, CJ, Buckley, BM, Brody, JA, Bis, JC, Rotter, JI, Mychaleckyj, JC, Campbell, H, Duan, Q, Lange, LA, Wilson, JF, Hayward, C, Polasek, O, Vitart, V, Rudan, I, Wright, AF, Rich, SS, Psaty, BM, Borecki, IB, Kearney, PM, Stott, DJ, Adrienne Cupples, L, Genome of The Netherlands Consortium, Jukema, JW, van der Harst, P, Sijbrands, EJ, Hottenga, JJ, Uitterlinden, AG, Swertz, MA, van Ommen, GJ, de Bakker, PI, Eline Slagboom, P, Boomsma, DI, Wijmenga, C, van Duijn, CM. 2015. Genome of The Netherlands population-specific imputations identify an ABCA6 variant associated with cholesterol levels. Nat Commun 6:6065.
  10. Genome of the Netherlands Consortium. 2014. Whole-genome sequence variation, population structure and demographic history of the Dutch population. Nat. Genet. 46:818-25.
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