Works matching IS 10614036 AND DT 2011 AND VI 43 AND IP 6

Results: 23
    1

    Sox2 cooperates with Chd7 to regulate genes that are mutated in human syndromes.

    Published in:
    Nature Genetics, 2011, v. 43, n. 6, p. 607, doi. 10.1038/ng.825
    By:
    • Engelen, Erik;
    • Akinci, Umut;
    • Bryne, Jan Christian;
    • Hou, Jun;
    • Gontan, Cristina;
    • Moen, Maaike;
    • Szumska, Dorota;
    • Kockx, Christel;
    • van IJcken, Wilfred;
    • Dekkers, Dick H. W.;
    • Demmers, Jeroen;
    • Rijkers, Erik-Jan;
    • Bhattacharya, Shoumo;
    • Philipsen, Sjaak;
    • Pevny, Larysa H.;
    • Grosveld, Frank G.;
    • Rottier, Robbert J.;
    • Lenhard, Boris;
    • Poot, Raymond A.
    Publication type:
    Article
    2

    The role of a bioresource research impact factor as an incentive to share human bioresources.

    Published in:
    2011
    By:
    • Cambon-Thomsen, Anne;
    • Thorisson, Gudmundur A;
    • Andrieu, Sandrine;
    • Bertier, Gabrielle;
    • Boeckhout, Martin;
    • Carpenter, Jane;
    • Dagher, Georges;
    • Dalgleish, Raymond;
    • Deschênes, Mylène;
    • di Donato, Jeanne Hélène;
    • Filocamo, Mirella;
    • Goldberg, Marcel;
    • Hewitt, Robert;
    • Hofman, Paul;
    • Kauffmann, Francine;
    • Leitsalu, Liis;
    • Lomba, Irene;
    • Mabile, Laurence;
    • Melegh, Bela;
    • Metspalu, Andres
    Publication type:
    Letter
    3

    Mutations in CEP57 cause mosaic variegated aneuploidy syndrome.

    Published in:
    Nature Genetics, 2011, v. 43, n. 6, p. 527, doi. 10.1038/ng.822
    By:
    • Snape, Katie;
    • Hanks, Sandra;
    • Ruark, Elise;
    • Barros-Núñez, Patricio;
    • Elliott, Anna;
    • Murray, Anne;
    • Lane, Andrew H.;
    • Shannon, Nora;
    • Callier, Patrick;
    • Chitayat, David;
    • Clayton-Smith, Jill;
    • FitzPatrick, David R;
    • Gisselsson, David;
    • Jacquemont, Sebastien;
    • Asakura-Hay, Keiko;
    • Micale, Mark A.;
    • Tolmie, John;
    • Turnpenny, Peter D.;
    • Wright, Michael;
    • Douglas, Jenny
    Publication type:
    Article
    4
    5

    Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations.

    Published in:
    Nature Genetics, 2011, v. 43, n. 6, p. 585, doi. 10.1038/ng.835
    By:
    • O'Roak, Brian J.;
    • Deriziotis, Pelagia;
    • Lee, Choli;
    • Vives, Laura;
    • Schwartz, Jerrod J.;
    • Girirajan, Santhosh;
    • Karakoc, Emre;
    • MacKenzie, Alexandra P.;
    • Ng, Sarah B.;
    • Baker, Carl;
    • Rieder, Mark J.;
    • Nickerson, Deborah A.;
    • Bernier, Raphael;
    • Fisher, Simon E.;
    • Shendure, Jay;
    • Eichler, Evan E.
    Publication type:
    Article
    6
    7
    8
    9

    KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes.

    Published in:
    Nature Genetics, 2011, v. 43, n. 6, p. 601, doi. 10.1038/ng.826
    By:
    • Putoux, Audrey;
    • Thomas, Sophie;
    • Coene, Karlien L. M.;
    • Davis, Erica E.;
    • Alanay, Yasemin;
    • Ogur, Gönül;
    • Uz, Elif;
    • Buzas, Daniela;
    • Gomes, Céline;
    • Patrier, Sophie;
    • Bennett, Christopher L.;
    • Elkhartoufi, Nadia;
    • Frison, Marie-Hélène Saint;
    • Rigonnot, Luc;
    • Joyé, Nicole;
    • Pruvost, Solenn;
    • Utine, Gulen Eda;
    • Boduroglu, Koray;
    • Nitschke, Patrick;
    • Fertitta, Laura
    Publication type:
    Article
    10

    Genome-wide association study of prostate cancer in men of African ancestry identifies a susceptibility locus at 17q21.

    Published in:
    Nature Genetics, 2011, v. 43, n. 6, p. 570, doi. 10.1038/ng.839
    By:
    • Haiman, Christopher A.;
    • Chen, Gary K.;
    • Blot, William J.;
    • Strom, Sara S.;
    • Berndt, Sonja I.;
    • Kittles, Rick A.;
    • Rybicki, Benjamin A.;
    • Isaacs, William B.;
    • Ingles, Sue A.;
    • Stanford, Janet L.;
    • Diver, W. Ryan;
    • Witte, John S.;
    • Hsing, Ann W.;
    • Nemesure, Barbara;
    • Rebbeck, Timothy R.;
    • Cooney, Kathleen A.;
    • Jianfeng Xu;
    • Kibel, Adam S.;
    • Hu, Jennifer J.;
    • John, Esther M.
    Publication type:
    Article
    11

    Meta-analysis of genome-wide association studies identifies common variants associated with blood pressure variation in east Asians.

    Published in:
    Nature Genetics, 2011, v. 43, n. 6, p. 531, doi. 10.1038/ng.834
    By:
    • Kato, Norihiro;
    • Takeuchi, Fumihiko;
    • Tabara, Yasuharu;
    • Kelly, Tanika N.;
    • Min Jin Go;
    • Xueling Sim;
    • Wan Ting Tay;
    • Chien-Hsiun Chen;
    • Yi Zhang;
    • Yamamoto, Ken;
    • Katsuya, Tomohiro;
    • Yokota, Mitsuhiro;
    • Young Jin Kim;
    • Ong, Rick Twee Hee;
    • Nabika, Toru;
    • Dongfeng Gu;
    • Li-ching Chang;
    • Kokubo, Yoshihiro;
    • Wei Huang;
    • Ohnaka, Keizo
    Publication type:
    Article
    12

    Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1.

    Published in:
    Nature Genetics, 2011, v. 43, n. 6, p. 574, doi. 10.1038/ng.824
    By:
    • Burdon, Kathryn P.;
    • Macgregor, Stuart;
    • Hewitt, Alex W.;
    • Sharma, Shiwani;
    • Chidlow, Glyn;
    • Mills, Richard A.;
    • Danoy, Patrick;
    • Casson, Robert;
    • Viswanathan, Ananth C.;
    • Liu, Jimmy Z.;
    • Landers, John;
    • Henders, Anjali K.;
    • Wood, John;
    • Souzeau, Emmanuelle;
    • Crawford, April;
    • Leo, Paul;
    • Jie Jin Wang;
    • Rochtchina, Elena;
    • Nyholt, Dale R.;
    • Martin, Nicholas G.
    Publication type:
    Article
    13

    Genome partitioning of genetic variation for complex traits using common SNPs.

    Published in:
    Nature Genetics, 2011, v. 43, n. 6, p. 519, doi. 10.1038/ng.823
    By:
    • Jian Yang;
    • Manolio, Teri A.;
    • Pasquale, Louis R.;
    • Boerwinkle, Eric;
    • Caporaso, Neil;
    • Cunningham, Julie M.;
    • de Andrade, Mariza;
    • Feenstra, Bjarke;
    • Feingold, Eleanor;
    • Hayes, M. Geoffrey;
    • Hill, William G.;
    • Landi, Maria Teresa;
    • Alonso, Alvaro;
    • Lettre, Guillaume;
    • Peng Lin;
    • Hua Ling;
    • Lowe, William;
    • Mathias, Rasika A.;
    • Melbye, Mads;
    • Pugh, Elizabeth
    Publication type:
    Article
    14
    15

    Research highlights.

    Published in:
    Nature Genetics, 2011, v. 43, n. 6, p. 511, doi. 10.1038/ng.850
    By:
    • Colosimo, Pamela;
    • Niemitz, Emily;
    • Bahcall, Orli;
    • Vogan, Kyle
    Publication type:
    Article
    16
    17
    18

    Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss.

    Published in:
    Nature Genetics, 2011, v. 43, n. 6, p. 595, doi. 10.1038/ng.830
    By:
    • Klein, Christopher J.;
    • Botuyan, Maria-Victoria;
    • Yanhong Wu;
    • Ward, Christopher J.;
    • Nicholson, Garth A.;
    • Hammans, Simon;
    • Hojo, Kaori;
    • Yamanishi, Hiromitch;
    • Karpf, Adam R.;
    • Wallace, Douglas C.;
    • Simon, Mariella;
    • Lander, Cecilie;
    • Boardman, Lisa A.;
    • Cunningham, Julie M.;
    • Smith, Glenn E.;
    • Litchy, William J.;
    • Boes, Benjamin;
    • Atkinson, Elizabeth J.;
    • Middha, Sumit;
    • Dyck, P. James B.
    Publication type:
    Article
    19

    Identification of an imprinted master trans regulator at the KLF14 locus related to multiple metabolic phenotypes.

    Published in:
    Nature Genetics, 2011, v. 43, n. 6, p. 561, doi. 10.1038/ng.833
    By:
    • Small, Kerrin S.;
    • Hedman, Åsa K.;
    • Grundberg, Elin;
    • Nica, Alexandra C.;
    • Thorleifsson, Gudmar;
    • Kong, Augustine;
    • Thorsteindottir, Unnur;
    • So-Youn Shin;
    • Richards, Hannah B.;
    • Soranzo, Nicole;
    • Ahmadi, Kourosh R.;
    • Lindgren, Cecilia M.;
    • Stefansson, Kari;
    • Dermitzakis, Emmanouil T.;
    • Deloukas, Panos;
    • Spector, Timothy D.;
    • McCarthy, Mark I.
    Publication type:
    Article
    20
    21

    A genome-wide association study of metabolic traits in human urine.

    Published in:
    Nature Genetics, 2011, v. 43, n. 6, p. 565, doi. 10.1038/ng.837
    By:
    • Suhre, Karsten;
    • Wallaschofski, Henri;
    • Raffler, Johannes;
    • Friedrich, Nele;
    • Haring, Robin;
    • Michael, Kathrin;
    • Wasner, Christina;
    • Krebs, Alexander;
    • Kronenberg, Florian;
    • Chang, David;
    • Meisinger, Christa;
    • Wichmann, H-Erich;
    • Hoffmann, Wolfgang;
    • Völzke, Henry;
    • Völker, Uwe;
    • Teumer, Alexander;
    • Biffar, Reiner;
    • Kocher, Thomas;
    • Felix, Stephan B.;
    • Illig, Thomas
    Publication type:
    Article
    22

    Recessive LAMC3 mutations cause malformations of occipital cortical development.

    Published in:
    Nature Genetics, 2011, v. 43, n. 6, p. 590, doi. 10.1038/ng.836
    By:
    • Barak, Tanyeri;
    • Kwan, Kenneth Y.;
    • Louvi, Angeliki;
    • Demirbilek, Veysi;
    • Saygı, Serap;
    • Tüysüz, Beyhan;
    • Choi, Murim;
    • Boyacı, Hüseyin;
    • Doerschner, Katja;
    • Ying Zhu;
    • Kaymakçalan, Hande;
    • Yılmaz, Saliha;
    • Bakırcıoğlu, Mehmet;
    • Çağlayan, Ahmet Okay;
    • Öztürk, Ali Kemal;
    • Yasuno, Katsuhito;
    • Brunken, William J.;
    • Atalar, Ergin;
    • Yalçınkaya, Cengiz;
    • Dinçer, Alp
    Publication type:
    Article
    23

    Genome-wide association and linkage identify modifier loci of lung disease severity in cystic fibrosis at 11p13 and 20q13.2.

    Published in:
    Nature Genetics, 2011, v. 43, n. 6, p. 539, doi. 10.1038/ng.838
    By:
    • Wright, Fred A.;
    • Strug, Lisa J.;
    • Doshi, Vishal K.;
    • Commander, Clayton W.;
    • Blackman, Scott M.;
    • Sun, Lei;
    • Berthiaume, Yves;
    • Cutler, David;
    • Cojocaru, Andreea;
    • Collaco, J. Michael;
    • Corey, Mary;
    • Dorfman, Ruslan;
    • Goddard, Katrina;
    • Green, Deanna;
    • Kent Jr., Jack W.;
    • Lange, Ethan M.;
    • Seunggeun Lee;
    • Weili Li;
    • Jingchun Luo;
    • Mayhew, Gregory M.
    Publication type:
    Article