Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndromepp221 - 224 Irene A Aligianis, Colin A Johnson, Paul Gissen, Dongrong Chen, Daniel Hampshire, Katrin Hoffmann, Esther N Maina, Neil V Morgan, Louise Tee, Jenny Morton, John R Ainsworth, Denise Horn, Elisabeth Rosser, Trevor R P Cole, Irene Stolte-Dijkstra, Karen Fieggen, Jill Clayton-Smith, André Mégarbané, Julian P Shield, Ruth Newbury-Ecob, William B Dobyns, John M Graham Jr, Klaus W Kjaer, Mette Warburg, Jacqueline Bond, Richard C Trembath, Laura W Harris, Yoshimi Takai, Stefan Mundlos, David Tannahill, C Geoffery Woods
& Eamonn R Maher Published online: 06 February 2005|doi:10.1038/ng1517 Abstract|Full text|PDF
(258K)
|Supplementary Information
Uncovering regulatory pathways that affect hematopoietic stem cell function using 'genetical genomics'pp225 - 232 Leonid Bystrykh, Ellen Weersing, Bert Dontje, Sue Sutton, Mathew T Pletcher, Tim Wiltshire, Andrew I Su, Edo Vellenga, Jintao Wang, Kenneth F Manly, Lu Lu, Elissa J Chesler, Rudi Alberts, Ritsert C Jansen, Robert W Williams, Michael P Cooke
& Gerald de Haan Published online: 13 February 2005|doi:10.1038/ng1497 Abstract|Full text|PDF
(688K)
|Supplementary Information See also:News and Views by Broman
Complex trait analysis of gene expression uncovers polygenic and pleiotropic networks that modulate nervous system functionpp233 - 242 Elissa J Chesler, Lu Lu, Siming Shou, Yanhua Qu, Jing Gu, Jintao Wang, Hui Chen Hsu, John D Mountz, Nicole E Baldwin, Michael A Langston, David W Threadgill, Kenneth F Manly
& Robert W Williams Published online: 13 February 2005|doi:10.1038/ng1518 Abstract|Full text|PDF
(1,221K)
|Supplementary Information See also:News and Views by Broman
Integrated transcriptional profiling and linkage analysis for identification of genes underlying diseasepp243 - 253 Norbert Hubner, Caroline A Wallace, Heike Zimdahl, Enrico Petretto, Herbert Schulz, Fiona Maciver, Michael Mueller, Oliver Hummel, Jan Monti, Vaclav Zidek, Alena Musilova, Vladimir Kren, Helen Causton, Laurence Game, Gabriele Born, Sabine Schmidt, Anita Müller, Stuart A Cook, Theodore W Kurtz, John Whittaker, Michal Pravenec
& Timothy J Aitman Published online: 13 February 2005|doi:10.1038/ng1522 Abstract|Full text|PDF
(495K)
|Supplementary Information See also:News and Views by Broman
Brahma links the SWI/SNF chromatin-remodeling complex with MeCP2-dependent transcriptional silencingpp254 - 264 Harikrishnan K N, Maggie Z Chow, Emma K Baker, Sharmistha Pal, Sahar Bassal, Daniella Brasacchio, Li Wang, Jeff M Craig, Peter L Jones, Saïd Sif
& Assam El-Osta Published online: 06 February 2005|doi:10.1038/ng1516 Abstract|Full text|PDF
(841K)
|Supplementary Information See also:News and Views by Wade
Global assessment of promoter methylation in a mouse model of cancer identifies ID4 as a putative tumor-suppressor gene in human leukemiapp265 - 274 Li Yu, Chunhui Liu, Jeff Vandeusen, Brian Becknell, Zunyan Dai, Yue-Zhong Wu, Aparna Raval, Te-Hui Liu, Wei Ding, Charlene Mao, Shujun Liu, Laura T Smith, Stephen Lee, Laura Rassenti, Guido Marcucci, John Byrd, Michael A Caligiuri
& Christoph Plass Published online: 20 February 2005|doi:10.1038/ng1521 Abstract|Full text|PDF
(746K)
|Supplementary Information See also:News and Views by Costello
A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2pp275 - 281 Bart L Loeys, Junji Chen, Enid R Neptune, Daniel P Judge, Megan Podowski, Tammy Holm, Jennifer Meyers, Carmen C Leitch, Nicholas Katsanis, Neda Sharifi, F Lauren Xu, Loretha A Myers, Philip J Spevak, Duke E Cameron, Julie De Backer, Jan Hellemans, Yan Chen, Elaine C Davis, Catherine L Webb, Wolfram Kress, Paul Coucke, Daniel B Rifkin, Anne M De Paepe
& Harry C Dietz Published online: 30 January 2005|doi:10.1038/ng1511 Abstract|Full text|PDF
(818K)
|Supplementary Information
Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulinpp282 - 288 Edgar A Otto, Bart Loeys, Hemant Khanna, Jan Hellemans, Ralf Sudbrak, Shuling Fan, Ulla Muerb, John F O'Toole, Juliana Helou, Massimo Attanasio, Boris Utsch, John A Sayer, Concepcion Lillo, David Jimeno, Paul Coucke, Anne De Paepe, Richard Reinhardt, Sven Klages, Motoyuki Tsuda, Isao Kawakami, Takehiro Kusakabe, Heymut Omran, Anita Imm, Melissa Tippens, Pamela A Raymond, Jo Hill, Phil Beales, Shirley He, Andreas Kispert, Benjamin Margolis, David S Williams, Anand Swaroop
& Friedhelm Hildebrandt Published online: 20 February 2005|doi:10.1038/ng1520 Abstract|Full text|PDF
(460K)
|Supplementary Information
Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth diseasepp289 - 294 Stephan Züchner, Maher Noureddine, Marina Kennerson, Kristien Verhoeven, Kristl Claeys, Peter De Jonghe, John Merory, Sofia A Oliveira, Marcy C Speer, Judith E Stenger, Gina Walizada, Danqing Zhu, Margaret A Pericak-Vance, Garth Nicholson, Vincent Timmerman
& Jeffery M Vance Published online: 30 January 2005|doi:10.1038/ng1514 Abstract|Full text|PDF
(581K)
|Supplementary Information See also:News and Views by McNiven
Conservation and diversification of Wnt signaling function during the evolution of nematode vulva developmentpp300 - 304 Min Zheng, Daniel Messerschmidt, Benno Jungblut
& Ralf J Sommer Published online: 06 February 2005|doi:10.1038/ng1512 Abstract|Full text|PDF
(855K)
|Supplementary Information
Pyrexia is a new thermal transient receptor potential channel endowing tolerance to high temperatures in Drosophila melanogasterpp305 - 310 Youngseok Lee, Yong Lee, Jaejung Lee, Sunhoe Bang, Seogang Hyun, Jongkyun Kang, Sung-Tae Hong, Eunkyung Bae, Bong-Kiun Kaang
& Jaeseob Kim Published online: 30 January 2005|doi:10.1038/ng1513 Abstract|Full text|PDF
(699K)
|Supplementary Information
MAGIC, an in vivo genetic method for the rapid construction of recombinant DNA moleculespp311 - 319 Mamie Z Li
& Stephen J Elledge Published online: 30 January 2005|doi:10.1038/ng1505 Abstract|Full text|PDF
(469K)
|Supplementary Information
Widespread and nonrandom distribution of DNA palindromes in cancer cells provides a structural platform for subsequent gene amplificationpp320 - 327 Hisashi Tanaka, Donald A Bergstrom, Meng-Chao Yao
& Stephen J Tapscott Published online: 13 February 2005|doi:10.1038/ng1515 Abstract|Full text|PDF
(288K)
|Supplementary Information
Corrigendum: Gene expression−based high-throughput screening (GE-HTS) and application to leukemia differentiationp328 K Stegmaier, K N Ross, S A Colavito, S O'Malley, B R Stockwell
& T R Golub doi:10.1038/ng0305-328a Full text|PDF
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Erratum: Assessing the validity of the association between the SUMO4 M55V variant and risk of type 1 diabetesp328 D J Smyth, J M M Howson, C E Lowe, N M Walker, A C Lam, S Nutland, J Hutchings, E Tuomilehto-Wolf, J Tuomilehto, C Guja, C Ionescu-Tîrgovite, D E Undlien, K S Rønningen, D Savage, D B Dunger, R C J Twells, W L McArdle, D P Strachan
& J A Todd doi:10.1038/ng0305-328b Full text|PDF
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Corrigendum: Low LDL cholesterol in African Americans resulting from frequent nonsense mutations in PCSK9p328 J Cohen, A Pertsemlidis, I K Kotowski, R Graham, C K Garcia
& H H Hobbs doi:10.1038/ng0305-328c Full text|PDF
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te, D E Undlien, K S Rønningen, D Savage, D B Dunger, R C J Twells, W L McArdle, D P Strachan
& J A Todd
