Works matching IS 10614036 AND DT 2010 AND VI 42 AND IP 9

Results: 21
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    A large and complex structural polymorphism at 16p12.1 underlies microdeletion disease risk.

    Published in:
    Nature Genetics, 2010, v. 42, n. 9, p. 745, doi. 10.1038/ng.643
    By:
    • Antonacci, Francesca;
    • Kidd, Jeffrey M.;
    • Marques-Bonet, Tomas;
    • Teague, Brian;
    • Ventura, Mario;
    • Girirajan, Santhosh;
    • Alkan, Can;
    • Campbell, Catarina D.;
    • Vives, Laura;
    • Malig, Maika;
    • Rosenfeld, Jill A.;
    • Ballif, Blake C.;
    • Shaffer, Lisa G.;
    • Graves, Tina A.;
    • Wilson, Richard K.;
    • Schwartz, David C.;
    • Eichler, Evan E.
    Publication type:
    Article
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    Genome-wide association analyses identifies a susceptibility locus for tuberculosis on chromosome 18q11.2.

    Published in:
    Nature Genetics, 2010, v. 42, n. 9, p. 739, doi. 10.1038/ng.639
    By:
    • Thye1,2, Thorsten;
    • Vannberg, Fredrik O.;
    • Wong, Sunny H.;
    • Owusu-Dabo, Ellis;
    • Osei6, Ivy;
    • Gyapong, John;
    • Sirugo, Giorgio;
    • Sisay-Joof, Fatou;
    • Enimil, Anthony;
    • Chinbuah, Margaret A.;
    • Floyd, Sian;
    • Warndorff, David K.;
    • Sichali, Lifted;
    • Malema, Simon;
    • Crampin, Amelia C.;
    • Ngwira, Bagrey;
    • Teo, Yik Y.;
    • Small, Kerrin;
    • Rockett, Kirk;
    • Kwiatkowski, Dominic
    Publication type:
    Article
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    Association of IFIH1 and other autoimmunity risk alleles with selective IgA deficiency.

    Published in:
    Nature Genetics, 2010, v. 42, n. 9, p. 777, doi. 10.1038/ng.644
    By:
    • Ferreira, Ricardo C.;
    • Qiang Pan-Hammarström;
    • Graham, Robert R.;
    • Gateva, Vesela;
    • Fontán, Gumersindo;
    • Lee, Annette T.;
    • Ortmann, Ward;
    • Urcelay, Elena;
    • Fernández-Arquero, Miguel;
    • Núñez, Concepción;
    • Jorgensen, Gudmundur;
    • Ludviksson, Björn R.;
    • Koskinen, Sinikka;
    • Haimila, Katri;
    • Clark, Hilary F.;
    • Klareskog, Lars;
    • Gregersen, Peter K.;
    • Behrens, Timothy W.;
    • Hammarström, Lennart
    Publication type:
    Article
    9

    Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome.

    Published in:
    Nature Genetics, 2010, v. 42, n. 9, p. 790, doi. 10.1038/ng.646
    By:
    • Ng, Sarah B.;
    • Bigham, Abigail W.;
    • Buckingham, Kati J.;
    • Hannibal, Mark C.;
    • McMillin, Margaret J.;
    • Gildersleeve, Heidi I.;
    • Beck, Anita E.;
    • Tabor, Holly K.;
    • Cooper, Gregory M.;
    • Mefford, Heather C.;
    • Lee, Choli;
    • Turner, Emily H.;
    • Smith, Joshua D.;
    • Rieder, Mark J.;
    • Yoshiura, Koh-ichiro;
    • Matsumoto, Naomichi;
    • Ohta, Tohru;
    • Niikawa, Norio;
    • Nickerson, Deborah A.;
    • Bamshad, Michael J.
    Publication type:
    Article
    10

    Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia.

    Published in:
    Nature Genetics, 2010, v. 42, n. 9, p. 794, doi. 10.1038/ng.641
    By:
    • Niemeyer, Charlotte M.;
    • Kang, Michelle W.;
    • Shin, Danielle H.;
    • Furlan, Ingrid;
    • Erlacher, Miriam;
    • Bunin, Nancy J.;
    • Bunda, Severa;
    • Finklestein, Jerry Z.;
    • Sakamoto, Kathleen M.;
    • Gorr, Thomas A.;
    • Mehta, Parinda;
    • Schmid, Irene;
    • Kropshofer, Gabriele;
    • Corbacioglu, Selim;
    • Lang, Peter J.;
    • Klein, Christoph;
    • Schlegel, Paul-Gerhard;
    • Heinzmann, Andrea;
    • Schneider, Michaela;
    • Starý, Jan
    Publication type:
    Article
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    Genome-wide association study identifies variants in the CFH region associated with host susceptibility to meningococcal disease.

    Published in:
    Nature Genetics, 2010, v. 42, n. 9, p. 772, doi. 10.1038/ng.640
    By:
    • Davila, Sonia;
    • Wright, Victoria J.;
    • Chiea Chuen Khor;
    • Kar Seng Sim;
    • Binder, Alexander;
    • Breunis, Willemijn B.;
    • Inwald, David;
    • Nadel, Simon;
    • Betts, Helen;
    • Carrol, Enitan D.;
    • de Groot, Ronald;
    • Hermans, Peter W. M.;
    • Hazelzet, Jan;
    • Emonts, Marieke;
    • Chui Chin Lim;
    • Kuijpers, Taco W.;
    • Martinon-Torres, Federico;
    • Salas, Antonio;
    • Zenz, Werner;
    • Levin, Michael
    Publication type:
    Article
    13

    Cite site.

    Published in:
    2010
    Publication type:
    Editorial
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    Haploinsufficiency for the erythroid transcription factor KLF1 causes hereditary persistence of fetal hemoglobin.

    Published in:
    Nature Genetics, 2010, v. 42, n. 9, p. 801, doi. 10.1038/ng.630
    By:
    • Borg, Joseph;
    • Papadopoulos, Petros;
    • Georgitsi, Marianthi;
    • Gutiérrez, Laura;
    • Grech, Godfrey;
    • Fanis, Pavlos;
    • Phylactides, Marios;
    • Verkerk, Annemieke J. M. H.;
    • van der Spek, Peter J.;
    • Scerri, Christian A.;
    • Cassar, Wilhelmina;
    • Galdies, Ruth;
    • van IJcken, Wilfred;
    • Özgür, Zeliha;
    • Gillemans, Nynke;
    • Hou, Jun;
    • Bugeja, Marisa;
    • Grosveld, Frank G.;
    • von Lindern, Marieke;
    • Felice, Alex E.
    Publication type:
    Article
    15

    Common genetic variation in the HLA region is associated with late-onset sporadic Parkinson's disease.

    Published in:
    Nature Genetics, 2010, v. 42, n. 9, p. 781, doi. 10.1038/ng.642
    By:
    • Hamza, Taye H.;
    • Zabetian, Cyrus P.;
    • Tenesa, Albert;
    • Laederach, Alain;
    • Montimurro, Jennifer;
    • Yearout, Dora;
    • Kay, Denise M.;
    • Doheny, Kimberly F.;
    • Paschall, Justin;
    • Pugh, Elizabeth;
    • Kusel, Victoria I.;
    • Collura, Randall;
    • Roberts, John;
    • Griffith, Alida;
    • Samii, Ali;
    • Scott, William K.;
    • Nutt, John;
    • Factor, Stewart A.;
    • Payami, Haydeh
    Publication type:
    Article
    16

    Genome-wide association study identifies new HLA class II haplotypes strongly protective against narcolepsy.

    Published in:
    Nature Genetics, 2010, v. 42, n. 9, p. 786, doi. 10.1038/ng.647
    By:
    • Hyun Hor;
    • Kutalik3,4, Zoltán;
    • Dauvilliers, Yves;
    • Valsesia, Armand;
    • Lammers, Gert J.;
    • Donjacour, Claire E. H. M.;
    • Iranzo, Alex;
    • Santamaria, Joan;
    • Adrados, Rosa Peraita;
    • Vicario, José L.;
    • Overeem, Sebastiaan;
    • Arnulf, Isabelle;
    • Theodorou, Ioannis;
    • Jennum, Poul;
    • Knudsen, Stine;
    • Bassetti, Claudio;
    • Mathis, Johannes;
    • Lecendreux, Michel;
    • Mayer, Geert;
    • Geisler, Peter
    Publication type:
    Article
    17

    ChIP-Seq identification of weakly conserved heart enhancers.

    Published in:
    Nature Genetics, 2010, v. 42, n. 9, p. 806, doi. 10.1038/ng.650
    By:
    • Blow, Matthew J.;
    • McCulley, David J.;
    • Zirong Li;
    • Tao Zhang;
    • Akiyama, Jennifer A.;
    • Holt, Amy;
    • Plajzer-Frick, Ingrid;
    • Shoukry, Malak;
    • Wright, Crystal;
    • Feng Chen;
    • Afzal, Veena;
    • Bristow, James;
    • Bing Ren;
    • Black, Brian L.;
    • Rubin, Edward M.;
    • Visel, Axel;
    • Pennacchio, Len A.
    Publication type:
    Article
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    Research highlights.

    Published in:
    Nature Genetics, 2010, v. 42, n. 9, p. 737, doi. 10.1038/ng0910-737
    By:
    • Bahcall, Orli;
    • Colosimo, Pamela;
    • Niemitz, Emily;
    • Vogan, Kyle
    Publication type:
    Article