Priorities and standards in pharmacogenetic researchpp671 - 681 Anna C Need, Arno G Motulsky
& David B Goldstein Published online: 28 June 2005|doi:10.1038/ng1593 Abstract|Full text|PDF
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Genomic screening and replication using the same data set in family-based association testingpp683 - 691 Kristel Van Steen, Matthew B McQueen, Alan Herbert, Benjamin Raby, Helen Lyon, Dawn L DeMeo, Amy Murphy, Jessica Su, Soma Datta, Carsten Rosenow, Michael Christman, Edwin K Silverman, Nan M Laird, Scott T Weiss
& Christoph Lange Published online: 05 June 2005|doi:10.1038/ng1582 Abstract|Full text|PDF
(237K)
|Supplementary Information
Gains of glycosylation comprise an unexpectedly large group of pathogenic mutationspp692 - 700 Guillaume Vogt, Ariane Chapgier, Kun Yang, Nadia Chuzhanova, Jacqueline Feinberg, Claire Fieschi, Stéphanie Boisson-Dupuis, Alexandre Alcais, Orchidée Filipe-Santos, Jacinta Bustamante, Ludovic de Beaucoudrey, Ibrahim Al-Mohsen, Sami Al-Hajjar, Abdulaziz Al-Ghonaium, Parisa Adimi, Mehdi Mirsaeidi, Soheila Khalilzadeh, Sergio Rosenzweig, Oscar de la Calle Martin, Thomas R Bauer, Jennifer M Puck, Hans D Ochs, Dieter Furthner, Carolin Engelhorn, Bernd Belohradsky, Davood Mansouri, Steven M Holland, Robert D Schreiber, Laurent Abel, David N Cooper, Claire Soudais
& Jean-Laurent Casanova Published online: 29 May 2005|doi:10.1038/ng1581 Abstract|Full text|PDF
(558K)
|Supplementary Information
An integrative genomics approach to infer causal associations between gene expression and diseasepp710 - 717 Eric E Schadt, John Lamb, Xia Yang, Jun Zhu, Steve Edwards, Debraj GuhaThakurta, Solveig K Sieberts, Stephanie Monks, Marc Reitman, Chunsheng Zhang, Pek Yee Lum, Amy Leonardson, Rolf Thieringer, Joseph M Metzger, Liming Yang, John Castle, Haoyuan Zhu, Shera F Kash, Thomas A Drake, Alan Sachs
& Aldons J Lusis Published online: 19 June 2005|doi:10.1038/ng1589 Abstract|Full text|PDF
(279K)
|Supplementary Information
Temporal dissection of p53 function in vitro and in vivopp718 - 726 Maria A Christophorou, Dionisio Martin-Zanca, Laura Soucek, Elizabeth R Lawlor, Lamorna Brown-Swigart, Emmy W Verschuren
& Gerard I Evan Published online: 29 May 2005|doi:10.1038/ng1572 Abstract|Full text|PDF
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Fine-scale structural variation of the human genomepp727 - 732 Eray Tuzun, Andrew J Sharp, Jeffrey A Bailey, Rajinder Kaul, V Anne Morrison, Lisa M Pertz, Eric Haugen, Hillary Hayden, Donna Albertson, Daniel Pinkel, Maynard V Olson
& Evan E Eichler Published online: 15 May 2005|doi:10.1038/ng1562 Abstract|Full text|PDF
(527K)
|Supplementary Information See also:News and Views by Lee
Calcium-sensitive potassium channelopathy in human epilepsy and paroxysmal movement disorderpp733 - 738 Wei Du, Jocelyn F Bautista, Huanghe Yang, Ana Diez-Sampedro, Sun-Ah You, Lejin Wang, Prakash Kotagal, Hans O Lüders, Jingyi Shi, Jianmin Cui, George B Richerson
& Qing K Wang Published online: 05 June 2005|doi:10.1038/ng1585 Abstract|Full text|PDF
(461K)
|Supplementary Information
TRPC6 is a glomerular slit diaphragm-associated channel required for normal renal functionpp739 - 744 Jochen Reiser, Krishna R Polu, Clemens C Möller, Peter Kenlan, Mehmet M Altintas, Changli Wei, Christian Faul, Stephanie Herbert, Ivan Villegas, Carmen Avila-Casado, Mary McGee, Hikaru Sugimoto, Dennis Brown, Raghu Kalluri, Peter Mundel, Paula L Smith, David E Clapham
& Martin R Pollak Published online: 27 May 2005|doi:10.1038/ng1592 Abstract|Full text|PDF
(631K)
|Supplementary Information See also:News and Views by Gudermann
Use of human tissue to assess the oncogenic activity of melanoma-associated mutationspp745 - 749 Yakov Chudnovsky, Amy E Adams, Paul B Robbins, Qun Lin
& Paul A Khavari Published online: 12 June 2005|doi:10.1038/ng1586 Abstract|Full text|PDF
(913K)
|Supplementary Information
Mutation in Rpa1 results in defective DNA double-strand break repair, chromosomal instability and cancer in micepp750 - 755 Yuxun Wang, Christopher D Putnam, Michael F Kane, Weijia Zhang, Lisa Edelmann, Robert Russell, Danaise V Carrión, Lynda Chin, Raju Kucherlapati, Richard D Kolodner
& Winfried Edelmann Published online: 19 June 2005|doi:10.1038/ng1587 Abstract|Full text|PDF
(409K)
|Supplementary Information
Atypical RNA polymerase subunits required for RNA-directed DNA methylationpp761 - 765 Tatsuo Kanno, Bruno Huettel, M Florian Mette, Werner Aufsatz, Estelle Jaligot, Lucia Daxinger, David P Kreil, Marjori Matzke
& Antonius J M Matzke Published online: 29 May 2005|doi:10.1038/ng1580 Abstract|Full text|PDF
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|Supplementary Information See also:News and Views by Vaucheret
Identification of hundreds of conserved and nonconserved human microRNAspp766 - 770 Isaac Bentwich, Amir Avniel, Yael Karov, Ranit Aharonov, Shlomit Gilad, Omer Barad, Adi Barzilai, Paz Einat, Uri Einav, Eti Meiri, Eilon Sharon, Yael Spector
& Zvi Bentwich Published online: 19 June 2005|doi:10.1038/ng1590 Abstract|Full text|PDF
(402K)
|Supplementary Information
Dynein mutations impair autophagic clearance of aggregate-prone proteinspp771 - 776 Brinda Ravikumar, Abraham Acevedo-Arozena, Sara Imarisio, Zdenek Berger, Coralie Vacher, Cahir J O'Kane, Steve D M Brown
& David C Rubinsztein Published online: 26 June 2005|doi:10.1038/ng1591 Abstract|Full text|PDF
(285K)
|Supplementary Information
Birth of a metabolic gene cluster in yeast by adaptive gene relocationpp777 - 782 Simon Wong
& Kenneth H Wolfe Published online: 12 June 2005|doi:10.1038/ng1584 Abstract|Full text|PDF
(189K)
|Supplementary Information
