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Page 1
Characteristics of de novo structural changes in the human genome.
Kloosterman WP, Francioli LC, Hormozdiari F, Marschall T, Hehir-Kwa JY, Abdellaoui A, Lameijer EW, Moed MH, Koval V, Renkens I, van Roosmalen MJ, Arp P, Karssen LC, Coe BP, Handsaker RE, Suchiman ED, Cuppen E, Thung DT, McVey M, Wendl MC; Genome of Netherlands Consortium; Uitterlinden A, van Duijn CM, Swertz MA, Wijmenga C, van Ommen GB, Slagboom PE, Boomsma DI, Schönhuth A, Eichler EE, de Bakker PI, Ye K, Guryev V. Kloosterman WP, et al. Among authors: wijmenga c. Genome Res. 2015 Jun;25(6):792-801. doi: 10.1101/gr.185041.114. Epub 2015 Apr 16. Genome Res. 2015. PMID: 25883321 Free PMC article.
Myosin IXB variant increases the risk of celiac disease and points toward a primary intestinal barrier defect.
Monsuur AJ, de Bakker PI, Alizadeh BZ, Zhernakova A, Bevova MR, Strengman E, Franke L, van't Slot R, van Belzen MJ, Lavrijsen IC, Diosdado B, Daly MJ, Mulder CJ, Mearin ML, Meijer JW, Meijer GA, van Oort E, Wapenaar MC, Koeleman BP, Wijmenga C. Monsuur AJ, et al. Among authors: wijmenga c. Nat Genet. 2005 Dec;37(12):1341-4. doi: 10.1038/ng1680. Epub 2005 Nov 13. Nat Genet. 2005. PMID: 16282976
A high-resolution HLA and SNP haplotype map for disease association studies in the extended human MHC.
de Bakker PI, McVean G, Sabeti PC, Miretti MM, Green T, Marchini J, Ke X, Monsuur AJ, Whittaker P, Delgado M, Morrison J, Richardson A, Walsh EC, Gao X, Galver L, Hart J, Hafler DA, Pericak-Vance M, Todd JA, Daly MJ, Trowsdale J, Wijmenga C, Vyse TJ, Beck S, Murray SS, Carrington M, Gregory S, Deloukas P, Rioux JD. de Bakker PI, et al. Among authors: wijmenga c. Nat Genet. 2006 Oct;38(10):1166-72. doi: 10.1038/ng1885. Epub 2006 Sep 24. Nat Genet. 2006. PMID: 16998491 Free PMC article.
Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction.
Sotoodehnia N, Isaacs A, de Bakker PI, Dörr M, Newton-Cheh C, Nolte IM, van der Harst P, Müller M, Eijgelsheim M, Alonso A, Hicks AA, Padmanabhan S, Hayward C, Smith AV, Polasek O, Giovannone S, Fu J, Magnani JW, Marciante KD, Pfeufer A, Gharib SA, Teumer A, Li M, Bis JC, Rivadeneira F, Aspelund T, Köttgen A, Johnson T, Rice K, Sie MP, Wang YA, Klopp N, Fuchsberger C, Wild SH, Mateo Leach I, Estrada K, Völker U, Wright AF, Asselbergs FW, Qu J, Chakravarti A, Sinner MF, Kors JA, Petersmann A, Harris TB, Soliman EZ, Munroe PB, Psaty BM, Oostra BA, Cupples LA, Perz S, de Boer RA, Uitterlinden AG, Völzke H, Spector TD, Liu FY, Boerwinkle E, Dominiczak AF, Rotter JI, van Herpen G, Levy D, Wichmann HE, van Gilst WH, Witteman JC, Kroemer HK, Kao WH, Heckbert SR, Meitinger T, Hofman A, Campbell H, Folsom AR, van Veldhuisen DJ, Schwienbacher C, O'Donnell CJ, Volpato CB, Caulfield MJ, Connell JM, Launer L, Lu X, Franke L, Fehrmann RS, te Meerman G, Groen HJ, Weersma RK, van den Berg LH, Wijmenga C, Ophoff RA, Navis G, Rudan I, Snieder H, Wilson JF, Pramstaller PP, Siscovick DS, Wang TJ, Gudnason V, van Duijn CM, Felix SB, Fishman GI, Jamshidi Y, Stricker BH, Samani NJ, Kääb S, Arking… See abstract for full author list ➔ Sotoodehnia N, et al. Among authors: wijmenga c. Nat Genet. 2010 Dec;42(12):1068-76. doi: 10.1038/ng.716. Epub 2010 Nov 14. Nat Genet. 2010. PMID: 21076409 Free PMC article.
Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identifies fourteen non-HLA shared loci.
Zhernakova A, Stahl EA, Trynka G, Raychaudhuri S, Festen EA, Franke L, Westra HJ, Fehrmann RS, Kurreeman FA, Thomson B, Gupta N, Romanos J, McManus R, Ryan AW, Turner G, Brouwer E, Posthumus MD, Remmers EF, Tucci F, Toes R, Grandone E, Mazzilli MC, Rybak A, Cukrowska B, Coenen MJ, Radstake TR, van Riel PL, Li Y, de Bakker PI, Gregersen PK, Worthington J, Siminovitch KA, Klareskog L, Huizinga TW, Wijmenga C, Plenge RM. Zhernakova A, et al. Among authors: wijmenga c. PLoS Genet. 2011 Feb;7(2):e1002004. doi: 10.1371/journal.pgen.1002004. Epub 2011 Feb 24. PLoS Genet. 2011. PMID: 21383967 Free PMC article.
Exome sequencing in a family segregating for celiac disease.
Szperl AM, Ricaño-Ponce I, Li JK, Deelen P, Kanterakis A, Plagnol V, van Dijk F, Westra HJ, Trynka G, Mulder CJ, Swertz M, Wijmenga C, Zheng HC. Szperl AM, et al. Among authors: wijmenga c. Clin Genet. 2011 Aug;80(2):138-47. doi: 10.1111/j.1399-0004.2011.01714.x. Epub 2011 Jun 21. Clin Genet. 2011. PMID: 21627641
A genome-wide screen for interactions reveals a new locus on 4p15 modifying the effect of waist-to-hip ratio on total cholesterol.
Surakka I, Isaacs A, Karssen LC, Laurila PP, Middelberg RP, Tikkanen E, Ried JS, Lamina C, Mangino M, Igl W, Hottenga JJ, Lagou V, van der Harst P, Mateo Leach I, Esko T, Kutalik Z, Wainwright NW, Struchalin MV, Sarin AP, Kangas AJ, Viikari JS, Perola M, Rantanen T, Petersen AK, Soininen P, Johansson A, Soranzo N, Heath AC, Papamarkou T, Prokopenko I, Tönjes A, Kronenberg F, Döring A, Rivadeneira F, Montgomery GW, Whitfield JB, Kähönen M, Lehtimäki T, Freimer NB, Willemsen G, de Geus EJ, Palotie A, Sandhu MS, Waterworth DM, Metspalu A, Stumvoll M, Uitterlinden AG, Jula A, Navis G, Wijmenga C, Wolffenbuttel BH, Taskinen MR, Ala-Korpela M, Kaprio J, Kyvik KO, Boomsma DI, Pedersen NL, Gyllensten U, Wilson JF, Rudan I, Campbell H, Pramstaller PP, Spector TD, Witteman JC, Eriksson JG, Salomaa V, Oostra BA, Raitakari OT, Wichmann HE, Gieger C, Järvelin MR, Martin NG, Hofman A, McCarthy MI, Peltonen L, van Duijn CM, Aulchenko YS, Ripatti S; ENGAGE Consortium. Surakka I, et al. Among authors: wijmenga c. PLoS Genet. 2011 Oct;7(10):e1002333. doi: 10.1371/journal.pgen.1002333. Epub 2011 Oct 20. PLoS Genet. 2011. PMID: 22028671 Free PMC article.
Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations.
Demirkan A, van Duijn CM, Ugocsai P, Isaacs A, Pramstaller PP, Liebisch G, Wilson JF, Johansson Å, Rudan I, Aulchenko YS, Kirichenko AV, Janssens AC, Jansen RC, Gnewuch C, Domingues FS, Pattaro C, Wild SH, Jonasson I, Polasek O, Zorkoltseva IV, Hofman A, Karssen LC, Struchalin M, Floyd J, Igl W, Biloglav Z, Broer L, Pfeufer A, Pichler I, Campbell S, Zaboli G, Kolcic I, Rivadeneira F, Huffman J, Hastie ND, Uitterlinden A, Franke L, Franklin CS, Vitart V; DIAGRAM Consortium; Nelson CP, Preuss M; CARDIoGRAM Consortium; Bis JC, O'Donnell CJ, Franceschini N; CHARGE Consortium; Witteman JC, Axenovich T, Oostra BA, Meitinger T, Hicks AA, Hayward C, Wright AF, Gyllensten U, Campbell H, Schmitz G; EUROSPAN consortium. Demirkan A, et al. PLoS Genet. 2012;8(2):e1002490. doi: 10.1371/journal.pgen.1002490. Epub 2012 Feb 16. PLoS Genet. 2012. PMID: 22359512 Free PMC article.
Common variants in the type 2 diabetes KCNQ1 gene are associated with impairments in insulin secretion during hyperglycaemic glucose clamp.
van Vliet-Ostaptchouk JV, van Haeften TW, Landman GW, Reiling E, Kleefstra N, Bilo HJ, Klungel OH, de Boer A, van Diemen CC, Wijmenga C, Boezen HM, Dekker JM, van 't Riet E, Nijpels G, Welschen LM, Zavrelova H, Bruin EJ, Elbers CC, Bauer F, Onland-Moret NC, van der Schouw YT, Grobbee DE, Spijkerman AM, van der A DL, Simonis-Bik AM, Eekhoff EM, Diamant M, Kramer MH, Boomsma DI, de Geus EJ, Willemsen G, Slagboom PE, Hofker MH, 't Hart LM. van Vliet-Ostaptchouk JV, et al. Among authors: wijmenga c. PLoS One. 2012;7(3):e32148. doi: 10.1371/journal.pone.0032148. Epub 2012 Mar 5. PLoS One. 2012. PMID: 22403629 Free PMC article.
704 results