Works matching IS 10614036 AND DT 2011 AND VI 43 AND IP 8

Results: 23
    1

    Extensive genomic and transcriptional diversity identified through massively parallel DNA and RNA sequencing of eighteen Korean individuals.

    Published in:
    Nature Genetics, 2011, v. 43, n. 8, p. 745, doi. 10.1038/ng.872
    By:
    • Young Seok Ju;
    • Jong-Il Kim;
    • Sheehyun Kim;
    • Dongwan Hong;
    • Park, Hansoo;
    • Jong-Yeon Shin;
    • Seungbok Lee;
    • Won-Chul Lee;
    • Sujung Kim;
    • Saet-Byeol Yu;
    • Sung-Soo Park;
    • Seung-Hyun Seo;
    • Ji-Young Yun;
    • Hyun-Jin Kim;
    • Dong-Sung Lee;
    • Yavartanoo, Maryam;
    • Kang, Hyunseok Peter;
    • Gokcumen, Omer;
    • Govindaraju, Diddahally R.;
    • Jung Hee Jung
    Publication type:
    Article
    2
    3

    Mutations in NBEAL2, encoding a BEACH protein, cause gray platelet syndrome.

    Published in:
    Nature Genetics, 2011, v. 43, n. 8, p. 738, doi. 10.1038/ng.884
    By:
    • Kahr1–, Walter H. A.;
    • Hinckley, Jesse;
    • Ling Li;
    • Schwertz, Hansjörg;
    • Christensen, Hilary;
    • Rowley, Jesse W.;
    • Pluthero, Fred G.;
    • Urban, Denisa;
    • Fabbro, Shay;
    • Nixon, Brie;
    • Gadzinski, Rick;
    • Storck, Mike;
    • Kai Wang;
    • Gi-Yung Ryu;
    • Jobe, Shawn M.;
    • Schutte, Brian C.;
    • Moseley, Jack;
    • Loughran, Noeleen B.;
    • Parkinson, John;
    • Weyrich, Andrew S.
    Publication type:
    Article
    4

    Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility.

    Published in:
    Nature Genetics, 2011, v. 43, n. 8, p. 761, doi. 10.1038/ng.873
    By:
    • Evans, David M.;
    • Spencer, Chris C. A.;
    • Pointon, Jennifer J.;
    • Zhan Su;
    • Harvey, David;
    • Kochan, Grazyna;
    • Opperman, Udo;
    • Dilthey, Alexander;
    • Pirinen, Matti;
    • Stone, Millicent A.;
    • Appleton, Louise;
    • Moutsianis, Loukas;
    • Leslie, Stephen;
    • Wordsworth, Tom;
    • Kenna, Tony J.;
    • Karaderi, Tugce;
    • Thomas, Gethin P.;
    • AWard, Michael M.;
    • Weisman, Michael H.;
    • Farrar, Claire
    Publication type:
    Article
    5
    6

    Seven prostate cancer susceptibility loci identified by a multi-stage genome-wide association study.

    Published in:
    Nature Genetics, 2011, v. 43, n. 8, p. 785, doi. 10.1038/ng.882
    By:
    • Zsofia^Kote-Jarai;
    • Ali Amin^Al Olama;
    • Graham G.^Giles;
    • Gianluca^Severi;
    • Johanna^Schleutker;
    • Maren^Weischer;
    • Daniele^Campa;
    • Elio^Riboli;
    • Tim^Key;
    • Henrik^Gronberg;
    • David J.^Hunter;
    • Peter^Kraft;
    • Michael J.^Thun;
    • Sue^Ingles;
    • Stephen^Chanock;
    • Demetrius^Albanes;
    • Richard B.^Hayes;
    • David E.^Neal;
    • Freddie C.^Hamdy;
    • Jenny L.^Donovan
    Publication type:
    Article
    7
    8

    Research highlights.

    Published in:
    Nature Genetics, 2011, v. 43, n. 8, p. 728, doi. 10.1038/ng.899
    Publication type:
    Article
    9
    10

    De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome.

    Published in:
    Nature Genetics, 2011, v. 43, n. 8, p. 729, doi. 10.1038/ng.868
    By:
    • Hoischen, Alexander;
    • van Bon, Bregje W. M.;
    • Rodríguez-Santiago, Benjamín;
    • Gilissen, Christian;
    • Vissers, Lisenka E. L. M.;
    • de Vries, Petra;
    • Janssen, Irene;
    • van Lier, Bart;
    • Hastings, Rob;
    • Smithson, Sarah F.;
    • Newbury-Ecob, Ruth;
    • Kjaergaard, Susanne;
    • Goodship, Judith;
    • McGowan, Ruth;
    • Bartholdi, Deborah;
    • Rauch, Anita;
    • Peippo, Maarit;
    • Cobben, Jan M.;
    • Wieczorek, Dagmar;
    • Gillessen-Kaesbach, Gabriele
    Publication type:
    Article
    11
    12
    13

    Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome.

    Published in:
    Nature Genetics, 2011, v. 43, n. 8, p. 735, doi. 10.1038/ng.885
    By:
    • Albers, Cornelis A.;
    • Cvejic, Ana;
    • Favier, Rémi;
    • Bouwmans, Evelien E.;
    • Alessi, Marie-Christine;
    • Bertone, Paul;
    • Jordan, Gregory;
    • Kettleborough, Ross N. W.;
    • Kiddle, Graham;
    • Kostadima, Myrto;
    • Read, Randy J.;
    • Sipos, Botond;
    • Sivapalaratnam, Suthesh;
    • Smethurst, Peter A.;
    • Stephens, Jonathan;
    • Voss, Katrin;
    • Nurden, Alan;
    • Rendon, Augusto;
    • Nurden, Paquita;
    • Ouwehand, Willem H.
    Publication type:
    Article
    14
    15
    16

    A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition.

    Published in:
    Nature Genetics, 2011, v. 43, n. 8, p. 776, doi. 10.1038/ng.891
    By:
    • Garcia-Gonzalo, Francesc R;
    • Corbit, Kevin C.;
    • Sirerol-Piquer, María Salomé;
    • Ramaswami, Gokul;
    • Otto, Edgar A.;
    • Noriega, Thomas R.;
    • Seol, Allen D.;
    • Robinson, Jon F.;
    • Bennett, Christopher L.;
    • Josifova, Dragana J.;
    • García-Verdugo, José Manuel;
    • Katsanis, Nicholas;
    • Hildebrandt, Friedhelm;
    • Reiter, Jeremy F.
    Publication type:
    Article
    17

    Erratum: CTCF-mediated functional chromatin interactome in pluripotent cells.

    Published in:
    2011
    By:
    • Handoko, Lusy;
    • Han Xu;
    • Guoliang Li;
    • Chew Yee Ngan;
    • Chew, Elaine;
    • Schnapp, Marie;
    • Charlie Wah Heng Lee;
    • Chaopeng Ye;
    • Joanne Lim Hui Ping;
    • Mulawadi, Fabianus;
    • Eleanor Wong;
    • Jianpeng Sheng;
    • Yubo Zhang;
    • Poh, Thompson;
    • Chee Seng Chan;
    • Kunarso, Galih;
    • Shahab, Atif;
    • Bourque, Guillaume;
    • Cacheux-Rataboul, Valere;
    • Wing-Kin Sung
    Publication type:
    Correction Notice
    18

    Genetic variation near IRS1 associates with reduced adiposity and an impaired metabolic profile.

    Published in:
    Nature Genetics, 2011, v. 43, n. 8, p. 753, doi. 10.1038/ng.866
    By:
    • Kilpelainen, Tuomas O.;
    • Carola Zillikens, M.;
    • Stančakova, Alena;
    • Finucane, Francis M.;
    • Ried, Janina S.;
    • Langenberg, Claudia;
    • Weihua Zhang;
    • Beckmann, Jacques S.;
    • Jian’an Luan;
    • Vandenput, Liesbeth;
    • Styrkarsdottir, Unnur;
    • Yanhua Zhou;
    • Smith, Albert Vernon;
    • Jing-Hua Zhao;
    • Amin, Najaf;
    • Vedantam, Sailaja;
    • So-Youn Shin;
    • Haritunians, Talin;
    • Mao Fu;
    • Feitosa, Mary F.
    Publication type:
    Article
    19

    NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet ?-granules.

    Published in:
    Nature Genetics, 2011, v. 43, n. 8, p. 732, doi. 10.1038/ng.883
    By:
    • Gunay-Aygun, Meral;
    • Falik-Zaccai, Tzipora C;
    • Vilboux, Thierry;
    • Zivony-Elboum, Yifat;
    • Gumruk, Fatma;
    • Cetin, Mualla;
    • Khayat, Morad;
    • Boerkoel, Cornelius F;
    • Kfir, Nehama;
    • Yan Huang;
    • Maynard, Dawn;
    • Dorward, Heidi;
    • Berger, Katherine;
    • Kleta, Robert;
    • Anikster, Yair;
    • Arat, Mutlu;
    • Freiberg, Andrew S.;
    • Kehrel, Beate E.;
    • Jurk, Kerstin;
    • Cruz, Pedro
    Publication type:
    Article
    20

    Increased methylation variation in epigenetic domains across cancer types.

    Published in:
    Nature Genetics, 2011, v. 43, n. 8, p. 768, doi. 10.1038/ng.865
    By:
    • Hansen, Kasper Daniel;
    • Timp, Winston;
    • Bravo, Héctor Corrada;
    • Sabunciyan, Sarven;
    • Langmead, Benjamin;
    • McDonald, Oliver G.;
    • Bo Wen;
    • Hao Wu;
    • Yun Liu;
    • Dinh Diep;
    • Briem, Eirikur;
    • Kun Zhang;
    • Irizarry, Rafael A.;
    • Feinberg, Andrew P.
    Publication type:
    Article
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