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

Results: 23

    • 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

    • 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

    • General properties of transcriptional time series in Escherichia coli.

      Published in:
      Nature Genetics, 2011, v. 43, n. 6, p. 554, doi. 10.1038/ng.821
      By:
      • So, Lok-hang;
      • Ghosh, Anandamohan;
      • Chenghang Zong;
      • Sepúlveda, Leonardo A.;
      • Segev, Ronen;
      • Golding, Ido
      Publication type:
      Article

    • 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

    • 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

    • Complex interactions between genes controlling trafficking in primary cilia.

      Published in:
      Nature Genetics, 2011, v. 43, n. 6, p. 547, doi. 10.1038/ng.832
      By:
      • Ocbina, Polloneal Jymmiel R.;
      • Eggenschwiler, Jonathan T.;
      • Moskowitz, Ivan;
      • Anderson, Kathryn V.
      Publication type:
      Article

    • 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

    • 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

    • 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

    • Conducting the metabolic syndrome orchestra.

      Published in:
      Nature Genetics, 2011, v. 43, n. 6, p. 506, doi. 10.1038/ng.842
      By:
      • Civelek, Mete;
      • Lusis, Aldons J.
      Publication type:
      Article

    • SOX2 and CHD7 cooperatively regulate human disease genes.

      Published in:
      Nature Genetics, 2011, v. 43, n. 6, p. 505, doi. 10.1038/ng.843
      By:
      • Puc, Janusz;
      • Rosenfeld, Michael G.
      Publication type:
      Article

    • 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

    • Standard cooperating procedures.

      Published in:
      Nature Genetics, 2011, v. 43, n. 6, p. 501, doi. 10.1038/ng.853
      Publication type:
      Article

    • 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

    • 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

    • New modifier loci in cystic fibrosis.

      Published in:
      Nature Genetics, 2011, v. 43, n. 6, p. 508, doi. 10.1038/ng.844
      By:
      • Witt, Heiko
      Publication type:
      Article

    • 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

    • Alteration of the serine protease PRSS56 causes angle-closure glaucoma in mice and posterior microphthalmia in humans and mice.

      Published in:
      Nature Genetics, 2011, v. 43, n. 6, p. 579, doi. 10.1038/ng.813
      By:
      • Nair, K. Saidas;
      • Hmani-Aifa, Mounira;
      • Ali, Zain;
      • Kearney, Alison L.;
      • Salem, Salma Ben;
      • Macalinao, Danilo G.;
      • Cosma, Ioan M.;
      • Bouassida, Walid;
      • Hakim, Bochra;
      • Benzina, Zeineb;
      • Soto, Ileana;
      • Söderkvist, Peter;
      • Howell, Gareth R.;
      • Smith, Richard S.;
      • Ayadi, Hammadi;
      • John, Simon W. M.
      Publication type:
      Article

    • 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

    • 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

    • 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

    • Principles for the post-GWAS functional characterization of cancer risk loci.

      Published in:
      2011
      By:
      • Freedman, Matthew L.;
      • Monteiro, Alvaro N. A.;
      • Gayther, Simon A.;
      • Coetzee, Gerhard A.;
      • Risch, Angela;
      • Plass, Christoph;
      • Casey, Graham;
      • De Biasi, Mariella;
      • Carlson, Chris;
      • Duggan, David;
      • James, Michael;
      • Liu, Pengyuan;
      • Tichelaar, Jay W.;
      • Vikis, Haris G.;
      • Ming You;
      • Mills, Ian G.
      Publication type:
      Opinion

    • 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