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Items: 1 to 20 of 282

1.

Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism.

Reynolds JJ, Bicknell LS, Carroll P, Higgs MR, Shaheen R, Murray JE, Papadopoulos DK, Leitch A, Murina O, Tarnauskaitė Ž, Wessel SR, Zlatanou A, Vernet A, von Kriegsheim A, Mottram RM, Logan CV, Bye H, Li Y, Brean A, Maddirevula S, Challis RC, Skouloudaki K, Almoisheer A, Alsaif HS, Amar A, Prescott NJ, Bober MB, Duker A, Faqeih E, Seidahmed MZ, Al Tala S, Alswaid A, Ahmed S, Al-Aama JY, Altmüller J, Al Balwi M, Brady AF, Chessa L, Cox H, Fischetto R, Heller R, Henderson BD, Hobson E, Nürnberg P, Percin EF, Peron A, Spaccini L, Quigley AJ, Thakur S, Wise CA, Yoon G, Alnemer M, Tomancak P, Yigit G, Taylor AM, Reijns MA, Simpson MA, Cortez D, Alkuraya FS, Mathew CG, Jackson AP, Stewart GS.

Nat Genet. 2017 Feb 13. doi: 10.1038/ng.3790. [Epub ahead of print]

PMID:
28191891
2.

MiR-137-derived polygenic risk: effects on cognitive performance in patients with schizophrenia and controls.

Cosgrove D, Harold D, Mothersill O, Anney R, Hill MJ, Bray NJ, Blokland G, Petryshen T; Wellcome Trust Case Control Consortium., Richards A, Mantripragada K, Owen M, O'Donovan MC, Gill M, Corvin A, Morris DW, Donohoe G.

Transl Psychiatry. 2017 Jan 24;7(1):e1012. doi: 10.1038/tp.2016.286.

PMID:
28117840
3.

Exploring the genetic architecture of inflammatory bowel disease by whole-genome sequencing identifies association at ADCY7.

Luo Y, de Lange KM, Jostins L, Moutsianas L, Randall J, Kennedy NA, Lamb CA, McCarthy S, Ahmad T, Edwards C, Serra EG, Hart A, Hawkey C, Mansfield JC, Mowat C, Newman WG, Nichols S, Pollard M, Satsangi J, Simmons A, Tremelling M, Uhlig H, Wilson DC, Lee JC, Prescott NJ, Lees CW, Mathew CG, Parkes M, Barrett JC, Anderson CA.

Nat Genet. 2017 Feb;49(2):186-192. doi: 10.1038/ng.3761. Epub 2017 Jan 9.

PMID:
28067910
4.

Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease.

de Lange KM, Moutsianas L, Lee JC, Lamb CA, Luo Y, Kennedy NA, Jostins L, Rice DL, Gutierrez-Achury J, Ji SG, Heap G, Nimmo ER, Edwards C, Henderson P, Mowat C, Sanderson J, Satsangi J, Simmons A, Wilson DC, Tremelling M, Hart A, Mathew CG, Newman WG, Parkes M, Lees CW, Uhlig H, Hawkey C, Prescott NJ, Ahmad T, Mansfield JC, Anderson CA, Barrett JC.

Nat Genet. 2017 Feb;49(2):256-261. doi: 10.1038/ng.3760. Epub 2017 Jan 9.

PMID:
28067908
5.

Genetic Association Analysis Reveals Differences in the Contribution of NOD2 Variants to the Clinical Phenotypes of Orofacial Granulomatosis.

Mentzer A, Nayee S, Omar Y, Hullah E, Taylor K, Goel R, Bye H, Shembesh T, Elliott TR, Campbell H, Patel P, Nolan A, Mansfield J, Challacombe S, Escudier M, Mathew CG, Sanderson JD, Prescott NJ.

Inflamm Bowel Dis. 2016 Jul;22(7):1552-8. doi: 10.1097/MIB.0000000000000844.

6.

Polymorphism in a lincRNA Associates with a Doubled Risk of Pneumococcal Bacteremia in Kenyan Children.

Kenyan Bacteraemia Study Group.; Wellcome Trust Case Control Consortium 2 (WTCCC2)., Rautanen A, Pirinen M, Mills TC, Rockett KA, Strange A, Ndungu AW, Naranbhai V, Gilchrist JJ, Bellenguez C, Freeman C, Band G, Bumpstead SJ, Edkins S, Giannoulatou E, Gray E, Dronov S, Hunt SE, Langford C, Pearson RD, Su Z, Vukcevic D, Macharia AW, Uyoga S, Ndila C, Mturi N, Njuguna P, Mohammed S, Berkley JA, Mwangi I, Mwarumba S, Kitsao BS, Lowe BS, Morpeth SC, Khandwalla I; Kilifi Bacteraemia Surveillance Group., Blackwell JM, Bramon E, Brown MA, Casas JP, Corvin A, Duncanson A, Jankowski J, Markus HS, Mathew CG, Palmer CN, Plomin R, Sawcer SJ, Trembath RC, Viswanathan AC, Wood NW, Deloukas P, Peltonen L, Williams TN, Scott JA, Chapman SJ, Donnelly P, Hill AV, Spencer CC.

Am J Hum Genet. 2016 Jun 2;98(6):1092-100. doi: 10.1016/j.ajhg.2016.03.025. Epub 2016 May 26.

7.

A Method to Exploit the Structure of Genetic Ancestry Space to Enhance Case-Control Studies.

Bodea CA, Neale BM, Ripke S; International IBD Genetics Consortium., Daly MJ, Devlin B, Roeder K.

Am J Hum Genet. 2016 May 5;98(5):857-68. doi: 10.1016/j.ajhg.2016.02.025. Epub 2016 Apr 14.

8.

Genome-wide rare copy number variation screening in ulcerative colitis identifies potential susceptibility loci.

Saadati HR, Wittig M, Helbig I, Häsler R, Anderson CA, Mathew CG, Kupcinskas L, Parkes M, Karlsen TH, Rosenstiel P, Schreiber S, Franke A.

BMC Med Genet. 2016 Apr 1;17:26. doi: 10.1186/s12881-016-0289-z.

9.

Polygenic risk of ischemic stroke is associated with cognitive ability.

Harris SE, Malik R, Marioni R, Campbell A, Seshadri S, Worrall BB, Sudlow CL, Hayward C, Bastin ME, Starr JM, Porteous DJ, Wardlaw JM, Deary IJ; METASTROKE Consortium..

Neurology. 2016 Feb 16;86(7):611-8. doi: 10.1212/WNL.0000000000002306. Epub 2015 Dec 22.

10.

The genetic associations of acute anterior uveitis and their overlap with the genetics of ankylosing spondylitis.

Robinson PC, Leo PJ, Pointon JJ, Harris J, Cremin K, Bradbury LA; Wellcome Trust Case Control Consortium.; Australasian Osteoporosis Genetics Consortium (AOGC)., Stebbings S, Harrison AA, Evans DM, Duncan EL, Wordsworth BP, Brown MA; Australasian Osteoporosis Genetics Consortium AOGC..

Genes Immun. 2016 Jan-Feb;17(1):46-51. doi: 10.1038/gene.2015.49. Epub 2015 Nov 26.

PMID:
26610302
11.

Inherited determinants of Crohn's disease and ulcerative colitis phenotypes: a genetic association study.

Cleynen I, Boucher G, Jostins L, Schumm LP, Zeissig S, Ahmad T, Andersen V, Andrews JM, Annese V, Brand S, Brant SR, Cho JH, Daly MJ, Dubinsky M, Duerr RH, Ferguson LR, Franke A, Gearry RB, Goyette P, Hakonarson H, Halfvarson J, Hov JR, Huang H, Kennedy NA, Kupcinskas L, Lawrance IC, Lee JC, Satsangi J, Schreiber S, Théâtre E, van der Meulen-de Jong AE, Weersma RK, Wilson DC; International Inflammatory Bowel Disease Genetics Consortium., Parkes M, Vermeire S, Rioux JD, Mansfield J, Silverberg MS, Radford-Smith G, McGovern DP, Barrett JC, Lees CW.

Lancet. 2016 Jan 9;387(10014):156-67. doi: 10.1016/S0140-6736(15)00465-1. Epub 2015 Oct 18.

12.

Novel insights into the genetics of smoking behaviour, lung function, and chronic obstructive pulmonary disease (UK BiLEVE): a genetic association study in UK Biobank.

Wain LV, Shrine N, Miller S, Jackson VE, Ntalla I, Soler Artigas M, Billington CK, Kheirallah AK, Allen R, Cook JP, Probert K, Obeidat M, Bossé Y, Hao K, Postma DS, Paré PD, Ramasamy A; UK Brain Expression Consortium (UKBEC)., Mägi R, Mihailov E, Reinmaa E, Melén E, O'Connell J, Frangou E, Delaneau O; OxGSK Consortium., Freeman C, Petkova D, McCarthy M, Sayers I, Deloukas P, Hubbard R, Pavord I, Hansell AL, Thomson NC, Zeggini E, Morris AP, Marchini J, Strachan DP, Tobin MD, Hall IP.

Lancet Respir Med. 2015 Oct;3(10):769-81. doi: 10.1016/S2213-2600(15)00283-0. Epub 2015 Sep 27. Erratum in: Lancet Respir Med. 2016 Jan;4(1):e4.

13.

Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.

Liu JZ, van Sommeren S, Huang H, Ng SC, Alberts R, Takahashi A, Ripke S, Lee JC, Jostins L, Shah T, Abedian S, Cheon JH, Cho J, Daryani NE, Franke L, Fuyuno Y, Hart A, Juyal RC, Juyal G, Kim WH, Morris AP, Poustchi H, Newman WG, Midha V, Orchard TR, Vahedi H, Sood A, Sung JJ, Malekzadeh R, Westra HJ, Yamazaki K, Yang SK; International Multiple Sclerosis Genetics Consortium.; International IBD Genetics Consortium., Barrett JC, Franke A, Alizadeh BZ, Parkes M, B K T, Daly MJ, Kubo M, Anderson CA, Weersma RK.

Nat Genet. 2015 Sep;47(9):979-86. doi: 10.1038/ng.3359. Epub 2015 Jul 20.

14.

Lamina propria macrophage phenotypes in relation to Escherichia coli in Crohn's disease.

Elliott TR, Rayment NB, Hudspith BN, Hands RE, Taylor K, Parkes GC, Prescott NJ, Petrovska L, Hermon-Taylor J, Brostoff J, Boussioutas A, Mathew CG, Bustin SA, Sanderson JD.

BMC Gastroenterol. 2015 Jul 3;15:75. doi: 10.1186/s12876-015-0305-3.

15.

Defective macrophage handling of Escherichia coli in Crohn's disease.

Elliott TR, Hudspith BN, Rayment NB, Prescott NJ, Petrovska L, Hermon-Taylor J, Brostoff J, Boussioutas A, Mathew CG, Sanderson JD.

J Gastroenterol Hepatol. 2015 Aug;30(8):1265-74. doi: 10.1111/jgh.12955.

PMID:
25809337
16.

A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome.

Aung T, Ozaki M, Mizoguchi T, Allingham RR, Li Z, Haripriya A, Nakano S, Uebe S, Harder JM, Chan AS, Lee MC, Burdon KP, Astakhov YS, Abu-Amero KK, Zenteno JC, Nilgün Y, Zarnowski T, Pakravan M, Safieh LA, Jia L, Wang YX, Williams S, Paoli D, Schlottmann PG, Huang L, Sim KS, Foo JN, Nakano M, Ikeda Y, Kumar RS, Ueno M, Manabe S, Hayashi K, Kazama S, Ideta R, Mori Y, Miyata K, Sugiyama K, Higashide T, Chihara E, Inoue K, Ishiko S, Yoshida A, Yanagi M, Kiuchi Y, Aihara M, Ohashi T, Sakurai T, Sugimoto T, Chuman H, Matsuda F, Yamashiro K, Gotoh N, Miyake M, Astakhov SY, Osman EA, Al-Obeidan SA, Owaidhah O, Al-Jasim L, Al Shahwan S, Fogarty RA, Leo P, Yetkin Y, Oğuz Ç, Kanavi MR, Beni AN, Yazdani S, Akopov EL, Toh KY, Howell GR, Orr AC, Goh Y, Meah WY, Peh SQ, Kosior-Jarecka E, Lukasik U, Krumbiegel M, Vithana EN, Wong TY, Liu Y, Koch AE, Challa P, Rautenbach RM, Mackey DA, Hewitt AW, Mitchell P, Wang JJ, Ziskind A, Carmichael T, Ramakrishnan R, Narendran K, Venkatesh R, Vijayan S, Zhao P, Chen X, Guadarrama-Vallejo D, Cheng CY, Perera SA, Husain R, Ho SL, Welge-Luessen UC, Mardin C, Schloetzer-Schrehardt U, Hillmer AM, Herms S, Moebus S, Nöthen MM, Weisschuh N, Shetty R, Ghosh A, Teo YY, Brown MA, Lischinsky I; Blue Mountains Eye Study GWAS Team.; Wellcome Trust Case Control Consortium 2., Crowston JG, Coote M, Zhao B, Sang J, Zhang N, You Q, Vysochinskaya V, Founti P, Chatzikyriakidou A, Lambropoulos A, Anastasopoulos E, Coleman AL, Wilson MR, Rhee DJ, Kang JH, May-Bolchakova I, Heegaard S, Mori K, Alward WL, Jonas JB, Xu L, Liebmann JM, Chowbay B, Schaeffeler E, Schwab M, Lerner F, Wang N, Yang Z, Frezzotti P, Kinoshita S, Fingert JH, Inatani M, Tashiro K, Reis A, Edward DP, Pasquale LR, Kubota T, Wiggs JL, Pasutto F, Topouzis F, Dubina M, Craig JE, Yoshimura N, Sundaresan P, John SW, Ritch R, Hauser MA, Khor CC.

Nat Genet. 2015 Apr;47(4):387-92. doi: 10.1038/ng.3226. Epub 2015 Feb 23. Erratum in: Nat Genet. 2015 Jun;47(6):689.

17.

Pooled sequencing of 531 genes in inflammatory bowel disease identifies an associated rare variant in BTNL2 and implicates other immune related genes.

Prescott NJ, Lehne B, Stone K, Lee JC, Taylor K, Knight J, Papouli E, Mirza MM, Simpson MA, Spain SL, Lu G, Fraternali F, Bumpstead SJ, Gray E, Amar A, Bye H, Green P, Chung-Faye G, Hayee B, Pollok R, Satsangi J, Parkes M, Barrett JC, Mansfield JC, Sanderson J, Lewis CM, Weale ME, Schlitt T, Mathew CG; UK IBD Genetics Consortium..

PLoS Genet. 2015 Feb 11;11(2):e1004955. doi: 10.1371/journal.pgen.1004955. eCollection 2015 Feb 11. Erratum in: PLoS Genet. 2015 Apr;11(4):e1005172.

18.

High-density mapping of the MHC identifies a shared role for HLA-DRB1*01:03 in inflammatory bowel diseases and heterozygous advantage in ulcerative colitis.

Goyette P, Boucher G, Mallon D, Ellinghaus E, Jostins L, Huang H, Ripke S, Gusareva ES, Annese V, Hauser SL, Oksenberg JR, Thomsen I, Leslie S; International Inflammatory Bowel Disease Genetics Consortium.; Australia and New Zealand IBDGC.; Belgium IBD Genetics Consortium.; Italian Group for IBD Genetic Consortium.; NIDDK Inflammatory Bowel Disease Genetics Consortium.; United Kingdom IBDGC.; Wellcome Trust Case Control Consortium.; Quebec IBD Genetics Consortium., Daly MJ, Van Steen K, Duerr RH, Barrett JC, McGovern DP, Schumm LP, Traherne JA, Carrington MN, Kosmoliaptsis V, Karlsen TH, Franke A, Rioux JD.

Nat Genet. 2015 Feb;47(2):172-9. doi: 10.1038/ng.3176. Epub 2015 Jan 5.

19.

Pharmacogenetic meta-analysis of genome-wide association studies of LDL cholesterol response to statins.

Postmus I, Trompet S, Deshmukh HA, Barnes MR, Li X, Warren HR, Chasman DI, Zhou K, Arsenault BJ, Donnelly LA, Wiggins KL, Avery CL, Griffin P, Feng Q, Taylor KD, Li G, Evans DS, Smith AV, de Keyser CE, Johnson AD, de Craen AJ, Stott DJ, Buckley BM, Ford I, Westendorp RG, Slagboom PE, Sattar N, Munroe PB, Sever P, Poulter N, Stanton A, Shields DC, O'Brien E, Shaw-Hawkins S, Chen YD, Nickerson DA, Smith JD, Dubé MP, Boekholdt SM, Hovingh GK, Kastelein JJ, McKeigue PM, Betteridge J, Neil A, Durrington PN, Doney A, Carr F, Morris A, McCarthy MI, Groop L, Ahlqvist E; Welcome Trust Case Control Consortium., Bis JC, Rice K, Smith NL, Lumley T, Whitsel EA, Stürmer T, Boerwinkle E, Ngwa JS, O'Donnell CJ, Vasan RS, Wei WQ, Wilke RA, Liu CT, Sun F, Guo X, Heckbert SR, Post W, Sotoodehnia N, Arnold AM, Stafford JM, Ding J, Herrington DM, Kritchevsky SB, Eiriksdottir G, Launer LJ, Harris TB, Chu AY, Giulianini F, MacFadyen JG, Barratt BJ, Nyberg F, Stricker BH, Uitterlinden AG, Hofman A, Rivadeneira F, Emilsson V, Franco OH, Ridker PM, Gudnason V, Liu Y, Denny JC, Ballantyne CM, Rotter JI, Adrienne Cupples L, Psaty BM, Palmer CN, Tardif JC, Colhoun HM, Hitman G, Krauss RM, Wouter Jukema J, Caulfield MJ.

Nat Commun. 2014 Oct 28;5:5068. doi: 10.1038/ncomms6068.

20.

Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process.

Springelkamp H, Höhn R, Mishra A, Hysi PG, Khor CC, Loomis SJ, Bailey JN, Gibson J, Thorleifsson G, Janssen SF, Luo X, Ramdas WD, Vithana E, Nongpiur ME, Montgomery GW, Xu L, Mountain JE, Gharahkhani P, Lu Y, Amin N, Karssen LC, Sim KS, van Leeuwen EM, Iglesias AI, Verhoeven VJ, Hauser MA, Loon SC, Despriet DD, Nag A, Venturini C, Sanfilippo PG, Schillert A, Kang JH, Landers J, Jonasson F, Cree AJ, van Koolwijk LM, Rivadeneira F, Souzeau E, Jonsson V, Menon G; Blue Mountains Eye Study—GWAS group., Weinreb RN, de Jong PT, Oostra BA, Uitterlinden AG, Hofman A, Ennis S, Thorsteinsdottir U, Burdon KP; NEIGHBORHOOD Consortium.; Wellcome Trust Case Control Consortium 2 (WTCCC2)., Spector TD, Mirshahi A, Saw SM, Vingerling JR, Teo YY, Haines JL, Wolfs RC, Lemij HG, Tai ES, Jansonius NM, Jonas JB, Cheng CY, Aung T, Viswanathan AC, Klaver CC, Craig JE, Macgregor S, Mackey DA, Lotery AJ, Stefansson K, Bergen AA, Young TL, Wiggs JL, Pfeiffer N, Wong TY, Pasquale LR, Hewitt AW, van Duijn CM, Hammond CJ.

Nat Commun. 2014 Sep 22;5:4883. doi: 10.1038/ncomms5883.

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