Nature Genetics Contents: February 2017 pp 169 - 317

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Advertisement Nature Index 2016 Australia & New Zealand  Nature Index 2016 Australia and New Zealand highlights the quality natural science research within these countries. This supplement examines the cities and institutions that largely contribute to the research as well as the factors that drive their success.  Access the free supplement for six months!   TABLE OF CONTENTS February 2017 Volume 49, Issue 2 Editorial Commentary News and Views Analysis Articles Letters Technical Reports Corrigenda Subscribe   Facebook   RSS   Recommend to library   Twitter   Advertisement Nature Index Collaborations 2016  Institutions and countries responsible for some of the highest quality of science research tend to form the strongest alliances and partnerships. Nature Index 2016 Collaborations takes closer look at the most fruitful collaborations; such as the bond between China and the United States.  Access this free supplement for six months!   Editorial Top It's all druggable   p169 doi:10.1038/ng.3788 Commentary Top CIViC is a community knowledgebase for expert crowdsourcing the clinical interpretation of variants in cancer OPEN   pp170 - 174 Malachi Griffith, Nicholas C Spies, Kilannin Krysiak, Joshua F McMichael, Adam C Coffman, Arpad M Danos, Benjamin J Ainscough, Cody A Ramirez, Damian T Rieke, Lynzey Kujan, Erica K Barnell, Alex H Wagner, Zachary L Skidmore, Amber Wollam, Connor J Liu, Martin R Jones, Rachel L Bilski, Robert Lesurf, Yan-Yang Feng, Nakul M Shah, Melika Bonakdar, Lee Trani, Matthew Matlock, Avinash Ramu, Katie M Campbell, Gregory C Spies, Aaron P Graubert, Karthik Gangavarapu, James M Eldred, David E Larson, Jason R Walker, Benjamin M Good, Chunlei Wu, Andrew I Su, Rodrigo Dienstmann, Adam A Margolin, David Tamborero, Nuria Lopez-Bigas, Steven J M Jones, Ron Bose, David H Spencer, Lukas D Wartman, Richard K Wilson, Elaine R Mardis & Obi L Griffith doi:10.1038/ng.3774 News and Views Top Finding host targets for HIV therapy   pp175 - 176 C Kimberly Tsui, Amita Gupta & Michael C Bassik doi:10.1038/ng.3777 A CRISPR screen conducted in a CD4+ T cell leukemia line has identified host factors required for HIV infection but dispensable for cellular survival. The results highlight sulfation on the HIV co-receptor CCR5 and cellular aggregation as potential targets for therapeutic intervention. See also: Article by Park et al. Many faces of SMCHD1   pp176 - 178 Andrew O M Wilkie doi:10.1038/ng.3776 The chromatin scaffolding protein SMCHD1 (structural maintenance of chromosomes flexible hinge domain containing 1) was previously shown to have diverse roles in X-chromosome inactivation, imprinting and double-strand break repair, and mutations in SMCHD1 contribute to a type of muscular dystrophy. Now, development of the nose and eyes is added to its list of functions. See also: Article by Shaw et al. | Letter by Gordon et al. SWI/SNF complex in cancer   pp178 - 179 Chao Lu & C David Allis doi:10.1038/ng.3779 Four studies in this issue report new mechanisms underlying the function of the chromatin remodeling SWI/SNF complex in controlling gene expression and suppressing tumor development, providing valuable insights into the treatment of cancers harboring mutations in genes encoding SWI/SNF complex subunits. See also: Article by Kadoch et al. | Letter by Stanton et al. | Letter by Wang et al. | Letter by Mathur et al. Genetics JOBS of the week Postdoctoral Positions Cincinnati Children’s Hospital Medical Center (CCHMC) Associate Research Scientist Columbia University Assistant / Associate Professor of Medicine Massachusetts General Hospital & Harvard Medical School Postdoctoral Position at USC University of Southern California Research Fellow Dana-Farber Cancer Institute (DFCI) More Science jobs from Genetics EVENT 2017 IMB Conference-Gene Regulation by the Numbers 06.19.17 Mainz, Germany More science events from Analysis Top Impaired H3K36 methylation defines a subset of head and neck squamous cell carcinomas   pp180 - 185 Simon Papillon-Cavanagh, Chao Lu, Tenzin Gayden, Leonie G Mikael, Denise Bechet, Christina Karamboulas, Laurie Ailles, Jason Karamchandani, Dylan M Marchione, Benjamin A Garcia, Ilan Weinreb, David Goldstein, Peter W Lewis, Octavia Maria Dancu, Sandeep Dhaliwal, William Stecho, Christopher J Howlett, Joe S Mymryk, John W Barrett, Anthony C Nichols, C David Allis, Jacek Majewski & Nada Jabado doi:10.1038/ng.3757 Nada Jabado, Jacek Majewski and colleagues identify mutations in multiple histone H3 genes causing recurrent p.Lys36Met alterations in head and neck squamous cell carcinomas. They show that tumors with these p.Lys36Met alterations correspond to a specific DNA methylation cluster along with tumors harboring previously described mutations in NSD1. Advertisement Thousands of single cells. One solution.  From the industry leaders in sequencing and Droplet Digital™ technologies, Illumina and Bio-Rad provide a robust, scalable, and user-friendly workflow enabling transcriptome profiling of hundreds to tens of thousands of single cells.   Articles Top Exploring the genetic architecture of inflammatory bowel disease by whole-genome sequencing identifies association at ADCY7   pp186 - 192 Yang Luo, Katrina M de Lange, Luke Jostins, Loukas Moutsianas, Joshua Randall, Nicholas A Kennedy, Christopher A Lamb, Shane McCarthy, Tariq Ahmad, Cathryn Edwards, Eva Goncalves Serra, Ailsa Hart, Chris Hawkey, John C Mansfield, Craig Mowat, William G Newman, Sam Nichols, Martin Pollard, Jack Satsangi, Alison Simmons, Mark Tremelling, Holm Uhlig, David C Wilson, James C Lee, Natalie J Prescott, Charlie W Lees, Christopher G Mathew, Miles Parkes, Jeffrey C Barrett & Carl A Anderson doi:10.1038/ng.3761 Carl Anderson, Jeffrey Barrett and colleagues use whole-genome sequencing and imputation to explore the genetic architecture of inflammatory bowel disease. They identify a low-frequency missense variant in ADCY7 that doubles risk of ulcerative colitis and detect a burden of very rare, damaging missense variants in known Crohn's disease risk genes. A genome-wide CRISPR screen identifies a restricted set of HIV host dependency factors   pp193 - 203 Ryan J Park, Tim Wang, Dylan Koundakjian, Judd F Hultquist, Pedro Lamothe-Molina, Blandine Monel, Kathrin Schumann, Haiyan Yu, Kevin M Krupzcak, Wilfredo Garcia-Beltran, Alicja Piechocka-Trocha, Nevan J Krogan, Alexander Marson, David M Sabatini, Eric S Lander, Nir Hacohen & Bruce D Walker doi:10.1038/ng.3741 Nir Hacohen, Bruce Walker, David Sabatini, Eric Lander and colleagues perform a CRISPR-Cas9-based screen for host factors that are required for HIV infection. They identify two known and three novel factors that are necessary for viral infection but that are not required for cell viability, making them potential targets for antiviral therapy. See also: News and Views by Tsui et al. Dynamics of clonal evolution in myelodysplastic syndromes   pp204 - 212 Hideki Makishima, Tetsuichi Yoshizato, Kenichi Yoshida, Mikkael A Sekeres, Tomas Radivoyevitch, Hiromichi Suzuki, Bartlomiej Przychodzen, Yasunobu Nagata, Manja Meggendorfer, Masashi Sanada, Yusuke Okuno, Cassandra Hirsch, Teodora Kuzmanovic, Yusuke Sato, Aiko Sato-Otsubo, Thomas LaFramboise, Naoko Hosono, Yuichi Shiraishi, Kenichi Chiba, Claudia Haferlach, Wolfgang Kern, Hiroko Tanaka, Yusuke Shiozawa, Inés Gómez-Seguí, Holleh D Husseinzadeh, Swapna Thota, Kathryn M Guinta, Brittney Dienes, Tsuyoshi Nakamaki, Shuichi Miyawaki, Yogen Saunthararajah, Shigeru Chiba, Satoru Miyano, Lee-Yung Shih, Torsten Haferlach, Seishi Ogawa & Jaroslaw P Maciejewski doi:10.1038/ng.3742 Jaroslaw Maciejewski, Seishi Ogawa and colleagues examine the clonal dynamics of myelodysplastic syndromes (MDS) by analyzing whole-exome and targeted sequencing data from a large patient collection. They find that progression steps previously defined by pathologic criteria are accompanied by distinct molecular changes, and they show that driver genes can be classified into molecular subtypes differentially associated with low-risk MDS, high-risk MDS or secondary acute myeloid leukemia. Dynamics of BAF-Polycomb complex opposition on heterochromatin in normal and oncogenic states   pp213 - 222 Cigall Kadoch, Robert T Williams, Joseph P Calarco, Erik L Miller, Christopher M Weber, Simon M G Braun, John L Pulice, Emma J Chory & Gerald R Crabtree doi:10.1038/ng.3734 Gerald Crabtree, Cigall Kadoch and colleagues report that BAF complexes oppose PRC by rapid, ATP-dependent eviction in the absence of Pol II occupancy, transcription or replication, leading to the formation of accessible chromatin. They also find that tumor-suppressor and oncogenic mutations in BAF subunits result in differential effects on PRC eviction. See also: News and Views by Lu & Allis | Letter by Stanton et al. | Letter by Mathur et al. | Letter by Wang et al. Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia   pp223 - 237 Esther Meyer, Keren J Carss, Julia Rankin, John M E Nichols, Detelina Grozeva, Agnel P Joseph, Niccolo E Mencacci, Apostolos Papandreou, Joanne Ng, Serena Barral, Adeline Ngoh, Hilla Ben-Pazi, Michel A Willemsen, David Arkadir, Angela Barnicoat, Hagai Bergman, Sanjay Bhate, Amber Boys, Niklas Darin, Nicola Foulds, Nicholas Gutowski, Alison Hills, Henry Houlden, Jane A Hurst, Zvi Israel, Margaret Kaminska, Patricia Limousin, Daniel Lumsden, Shane McKee, Shibalik Misra, Shekeeb S Mohammed, Vasiliki Nakou, Joost Nicolai, Magnus Nilsson, Hardev Pall, Kathryn J Peall, Gregory B Peters, Prab Prabhakar, Miriam S Reuter, Patrick Rump, Reeval Segel, Margje Sinnema, Martin Smith, Peter Turnpenny, Susan M White, Dagmar Wieczorek, Sarah Wiethoff, Brian T Wilson, Gidon Winter, Christopher Wragg, Simon Pope, Simon J H Heales, Deborah Morrogh, UK10K Consortium, Deciphering Developmental Disorders Study, NIHR BioResource Rare Diseases Consortium, Alan Pittman, Lucinda J Carr, Belen Perez-Dueñas, Jean-Pierre Lin, Andre Reis, William A Gahl, Camilo Toro, Kailash P Bhatia, Nicholas W Wood, Erik-Jan Kamsteeg, Wui K Chong, Paul Gissen, Maya Topf, Russell C Dale, Jonathan R Chubb, F Lucy Raymond & Manju A Kurian doi:10.1038/ng.3740 Manju Kurian and colleagues report heterozygous variants in KMT2B in 27 unrelated individuals with a complex progressive childhood-onset dystonia, often associated with a typical facial appearance. Their findings highlight a clinically recognizable form of dystonia and demonstrate a crucial role for KMT2B in the physiological control of voluntary movement. SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome   pp238 - 248 Natalie D Shaw, Harrison Brand, Zachary A Kupchinsky, Hemant Bengani, Lacey Plummer, Takako I Jones, Serkan Erdin, Kathleen A Williamson, Joe Rainger, Alexei Stortchevoi, Kaitlin Samocha, Benjamin B Currall, Donncha S Dunican, Ryan L Collins, Jason R Willer, Angela Lek, Monkol Lek, Malik Nassan, Shahrin Pereira, Tammy Kammin, Diane Lucente, Alexandra Silva, Catarina M Seabra, Colby Chiang, Yu An, Morad Ansari, Jacqueline K Rainger, Shelagh Joss, Jill Clayton Smith, Margaret F Lippincott, Sylvia S Singh, Nirav Patel, Jenny W Jing, Jennifer R Law, Nalton Ferraro, Alain Verloes, Anita Rauch, Katharina Steindl, Markus Zweier, Ianina Scheer, Daisuke Sato, Nobuhiko Okamoto, Christina Jacobsen, Jeanie Tryggestad, Steven Chernausek, Lisa A Schimmenti, Benjamin Brasseur, Claudia Cesaretti, Jose E García-Ortiz, Tatiana Pineda Buitrago, Orlando Perez Silva, Jodi D Hoffman, Wolfgang Mühlbauer, Klaus W Ruprecht, Bart L Loeys, Masato Shino, Angela M Kaindl, Chie-Hee Cho, Cynthia C Morton, Richard R Meehan, Veronica van Heyningen, Eric C Liao, Ravikumar Balasubramanian, Janet E Hall, Stephanie B Seminara, Daniel Macarthur, Steven A Moore, Koh-ichiro Yoshiura, James F Gusella, Joseph A Marsh, John M Graham Jr, Angela E Lin, Nicholas Katsanis, Peter L Jones, William F Crowley Jr, Erica E Davis, David R FitzPatrick & Michael E Talkowski doi:10.1038/ng.3743 Michael Talkowski, David FitzPatrick, Erica Davis and colleagues report rare inherited or de novo missense variants in SMCHD1 in arhinia patients. Some of the same mutations in SMCHD1 are known to cause a phenotypically distinct muscular dystrophy disorder, FSHD2, and the distinct clinical features of the two disorders suggests that additional genes interact with SMCHD1 to cause arhinia. See also: News and Views by Wilkie | Letter by Gordon et al. Letters Top De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development   pp249 - 255 Christopher T Gordon, Shifeng Xue, Gökhan Yigit, Hicham Filali, Kelan Chen, Nadine Rosin, Koh-ichiro Yoshiura, Myriam Oufadem, Tamara J Beck, Ruth McGowan, Alex C Magee, Janine Altmüller, Camille Dion, Holger Thiele, Alexandra D Gurzau, Peter Nürnberg, Dieter Meschede, Wolfgang Mühlbauer, Nobuhiko Okamoto, Vinod Varghese, Rachel Irving, Sabine Sigaudy, Denise Williams, S Faisal Ahmed, Carine Bonnard, Mung Kei Kong, Ilham Ratbi, Nawfal Fejjal, Meriem Fikri, Siham Chafai Elalaoui, Hallvard Reigstad, Christine Bole-Feysot, Patrick Nitschké, Nicola Ragge, Nicolas Lévy, Gökhan Tunçbilek, Audrey S M Teo, Michael L Cunningham, Abdelaziz Sefiani, Hülya Kayserili, James M Murphy, Chalermpong Chatdokmaiprai, Axel M Hillmer, Duangrurdee Wattanasirichaigoon, Stanislas Lyonnet, Frédérique Magdinier, Asif Javed, Marnie E Blewitt, Jeanne Amiel, Bernd Wollnik & Bruno Reversade doi:10.1038/ng.3765 Jeanne Amiel, Bernd Wollnik, Bruno Reversade and colleagues report de novo missense mutations in SMCHD1 in patients with Bosma arhinia microphthalmia syndrome (BAMS) and isolated arhinia. Mechanistic studies support a key role for SMCHD1 in nasal development and suggest that the mutations in patients may function via a gain-of-function mechanism. See also: News and Views by Wilkie | Article by Shaw et al. Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease   pp256 - 261 Katrina M de Lange, Loukas Moutsianas, James C Lee, Christopher A Lamb, Yang Luo, Nicholas A Kennedy, Luke Jostins, Daniel L Rice, Javier Gutierrez-Achury, Sun-Gou Ji, Graham Heap, Elaine R Nimmo, Cathryn Edwards, Paul Henderson, Craig Mowat, Jeremy Sanderson, Jack Satsangi, Alison Simmons, David C Wilson, Mark Tremelling, Ailsa Hart, Christopher G Mathew, William G Newman, Miles Parkes, Charlie W Lees, Holm Uhlig, Chris Hawkey, Natalie J Prescott, Tariq Ahmad, John C Mansfield, Carl A Anderson & Jeffrey C Barrett doi:10.1038/ng.3760 Jeffrey Barrett, Carl Anderson and colleagues report the results of a large genome-wide association study of inflammatory bowel disease. They identify 25 new genome-wide significant loci, 3 of which contain integrin genes, and find that the associated variants at several of these loci are correlated with expression changes in response to immune stimulus. Genome-wide association study identifies distinct genetic contributions to prognosis and susceptibility in Crohn's disease   pp262 - 268 James C Lee, Daniele Biasci, Rebecca Roberts, Richard B Gearry, John C Mansfield, Tariq Ahmad, Natalie J Prescott, Jack Satsangi, David C Wilson, Luke Jostins, Carl A Anderson, UK IBD Genetics Consortium, James A Traherne, Paul A Lyons, Miles Parkes & Kenneth G C Smith doi:10.1038/ng.3755 James Lee, Kenneth Smith and colleagues report a within-cases genome-wide association analysis for Crohn's disease to identify genetic loci specifically associated with disease severity and outcome. They find four loci associated with prognosis, none of which is associated with susceptibility to Crohn's disease. Genome-wide association study of primary sclerosing cholangitis identifies new risk loci and quantifies the genetic relationship with inflammatory bowel disease   pp269 - 273 Sun-Gou Ji, Brian D Juran, Sören Mucha, Trine Folseraas, Luke Jostins, Espen Melum, Natsuhiko Kumasaka, Elizabeth J Atkinson, Erik M Schlicht, Jimmy Z Liu, Tejas Shah, Javier Gutierrez-Achury, Kirsten M Boberg, Annika Bergquist, Severine Vermeire, Bertus Eksteen, Peter R Durie, Martti Farkkila, Tobias Müller, Christoph Schramm, Martina Sterneck, Tobias J Weismüller, Daniel N Gotthardt, David Ellinghaus, Felix Braun, Andreas Teufel, Mattias Laudes, Wolfgang Lieb, Gunnar Jacobs, Ulrich Beuers, Rinse K Weersma, Cisca Wijmenga, Hanns-Ulrich Marschall, Piotr Milkiewicz, Albert Pares, Kimmo Kontula, Olivier Chazouillères, Pietro Invernizzi, Elizabeth Goode, Kelly Spiess, Carmel Moore, Jennifer Sambrook, Willem H Ouwehand, David J Roberts, John Danesh, Annarosa Floreani, Aliya F Gulamhusein, John E Eaton, Stefan Schreiber, Catalina Coltescu, Christopher L Bowlus, Velimir A Luketic, Joseph A Odin, Kapil B Chopra, Kris V Kowdley, Naga Chalasani, Michael P Manns, Brijesh Srivastava, George Mells, Richard N Sandford, Graeme Alexander, Daniel J Gaffney, Roger W Chapman, Gideon M Hirschfield, Mariza de Andrade, The UK-PSC Consortium, The International IBD Genetics Consortium, The International PSC Study Group, Simon M Rushbrook, Andre Franke, Tom H Karlsen, Konstantinos N Lazaridis & Carl A Anderson doi:10.1038/ng.3745 Konstantinos Lazaridis, Carl Anderson and colleagues report results of a genome-wide association study of primary sclerosing cholangitis (PSC). They identify four new susceptibility loci for PSC and quantify the correlation of common genetic variation shared between PSC and inflammatory bowel diseases. Genome-wide association analyses of sleep disturbance traits identify new loci and highlight shared genetics with neuropsychiatric and metabolic traits   pp274 - 281 Jacqueline M Lane, Jingjing Liang, Irma Vlasac, Simon G Anderson, David A Bechtold, Jack Bowden, Richard Emsley, Shubhroz Gill, Max A Little, Annemarie I Luik, Andrew Loudon, Frank A J L Scheer, Shaun M Purcell, Simon D Kyle, Deborah A Lawlor, Xiaofeng Zhu, Susan Redline, David W Ray, Martin K Rutter & Richa Saxena doi:10.1038/ng.3749 Richa Saxena and colleagues report genome-wide association analyses of sleep disturbance traits in the UK Biobank cohort. They discover loci associated with insomnia symptoms and excessive daytime sleepiness and identify genetic correlations with several neuropsychiatric and metabolic traits. Smarca4 ATPase mutations disrupt direct eviction of PRC1 from chromatin   pp282 - 288 Benjamin Z Stanton, Courtney Hodges, Joseph P Calarco, Simon M G Braun, Wai Lim Ku, Cigall Kadoch, Keji Zhao & Gerald R Crabtree doi:10.1038/ng.3735 Gerald Crabtree, Keji Zhao and colleagues report that recurrent disease-associated mutations in SMARCA4 result in increased PRC1 deposition and activity. Using an in cellula assay, they find that the BAF (mSWI/SNF) complex directly evicts PRC from chromatin via an ATP-dependent mechanism and that this occurs within minutes of BAF occupancy. See also: News and Views by Lu & Allis | Article by Kadoch et al. | Letter by Mathur et al. | Letter by Wang et al. SMARCB1-mediated SWI/SNF complex function is essential for enhancer regulation   pp289 - 295 Xiaofeng Wang, Ryan S Lee, Burak H Alver, Jeffrey R Haswell, Su Wang, Jakub Mieczkowski, Yotam Drier, Shawn M Gillespie, Tenley C Archer, Jennifer N Wu, Evgeni P Tzvetkov, Emma C Troisi, Scott L Pomeroy, Jaclyn A Biegel, Michael Y Tolstorukov, Bradley E Bernstein, Peter J Park & Charles W M Roberts doi:10.1038/ng.3746 Charles Roberts, Peter Park, Bradley Bernstein and colleagues examine the consequences of SMARCB1 loss on enhancer landscapes in human rhabdoid tumors. They show that SMARCB1 is essential for the integrity and abundance of SWI/SNF complexes and facilitates their targeting to appropriate enhancers. See also: News and Views by Lu & Allis | Article by Kadoch et al. | Letter by Stanton et al. | Letter by Mathur et al. ARID1A loss impairs enhancer-mediated gene regulation and drives colon cancer in mice   pp296 - 302 Burak H Alver, Adrianna K San Roman, Boris G Wilson, Xiaofeng Wang, Agoston T Agoston, Peter J Park, Ramesh A Shivdasani & Charles W M Roberts doi:10.1038/ng.3744 Charles Roberts and colleagues show that deletion of Arid1a from mouse intestinal epithelium results in invasive adenocarcinomas resembling human colorectal cancer. They further show that ARID1A loss impairs SWI/SNF targeting and enhancer-mediated gene regulation. See also: News and Views by Lu & Allis | Article by Kadoch et al. | Letter by Ji et al. | Letter by Wang et al. Technical Reports Top Robust and scalable inference of population history from hundreds of unphased whole genomes   pp303 - 309 Jonathan Terhorst, John A Kamm & Yun S Song doi:10.1038/ng.3748 Yun Song and colleagues present SMC++, a statistical method for population history inference capable of analyzing unphased whole genomes and sample sizes much larger than can be analyzed by current methods. The authors apply SMC++ to sequence data from human, Drosophila and finch populations. A method for identifying genetic heterogeneity within phenotypically defined disease subgroups   pp310 - 316 James Liley, John A Todd & Chris Wallace doi:10.1038/ng.3751 James Liley, John Todd and Chris Wallace present a statistical method for determining whether disease-associated variants have different effect sizes in phenotypically defined subgroups of disease cases. The test can be combined with existing methods to determine whether genetic heterogeneity is driven by population stratification or by different mechanisms of disease pathology. Corrigenda Top Corrigendum: Mutational signatures in esophageal adenocarcinoma define etiologically distinct subgroups with therapeutic relevance   p317 Maria Secrier, Xiaodun Li, Nadeera de Silva, Matthew D Eldridge, Gianmarco Contino, Jan Bornschein, Shona MacRae, Nicola Grehan, Maria O'Donovan, Ahmad Miremadi, Tsun-Po Yang, Lawrence Bower, Hamza Chettouh, Jason Crawte, Núria Galeano-Dalmau, Anna Grabowska, John Saunders, Tim Underwood, Nicola Waddell, Andrew P Barbour, Barbara Nutzinger, Achilleas Achilleos, Paul A W Edwards, Andy G Lynch, Simon Tavaré, Rebecca C Fitzgerald & on behalf of the Oesophageal Cancer Clinical and Molecular Stratification (OCCAMS) Consortium doi:10.1038/ng0217-317a Corrigendum: Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts   p317 Emma M Jenkinson, Mathieu P Rodero, Paul R Kasher, Carolina Uggenti, Anthony Oojageer, Laurence C Goosey, Yoann Rose, Christopher J Kershaw, Jill E Urquhart, Simon G Williams, Sanjeev S Bhaskar, James O'Sullivan, Gabriela M Baerlocher, Monika Haubitz, Geraldine Aubert, Kristin W Barañano, Angela J Barnicoat, Roberta Battini, Andrea Berger, Edward M Blair, Janice E Brunstrom-Hernandez, Johannes A Buckard, David M Cassiman, Rosaline Caumes, Duccio M Cordelli, Liesbeth M De Waele, Alexander J Fay, Patrick Ferreira, Nicholas A Fletcher, Alan E Fryer, Himanshu Goel, Cheryl A Hemingway, Marco Henneke, Imelda Hughes, Rosalind J Jefferson, Ram Kumar, Lieven Lagae, Pierre G Landrieu, Charles M Lourenço, Timothy J Malpas, Sarju G Mehta, Imke Metz, Sakkubai Naidu, Katrin Õunap, Axel Panzer, Prab Prabhakar, Gerardine Quaghebeur, Raphael Schiffmann, Elliott H Sherr, Kanaga R Sinnathuray, Calvin Soh, Helen S Stewart, John Stone, Hilde Van Esch, Christine E G Van Mol, Adeline Vanderver, Emma L Wakeling, Andrea Whitney, Graham D Pavitt, Sam Griffiths-Jones, Gillian I Rice, Patrick Revy, Marjo S van der Knaap, John H Livingston, Raymond T O'Keefe & Yanick J Crow doi:10.1038/ng0217-317b Corrigendum: Integrative genomic analysis implicates limited peripheral adipose storage capacity in the pathogenesis of human insulin resistance   p317 Luca A Lotta, Pawan Gulati, Felix R Day, Felicity Payne, Halit Ongen, Martijn van de Bunt, Kyle J Gaulton, John D Eicher, Stephen J Sharp, Jian'an Luan, Emanuella De Lucia Rolfe, Isobel D Stewart, Eleanor Wheeler, Sara M Willems, Claire Adams, Hanieh Yaghootkar, EPIC-InterAct Consortium, Cambridge FPLD1 Consortium, Nita G Forouhi, Kay-Tee Khaw, Andrew D Johnson, Robert K Semple, Timothy Frayling, John R B Perry, Emmanouil Dermitzakis, Mark I McCarthy, Inês Barroso, Nicholas J Wareham, David B Savage, Claudia Langenberg, Stephen O'Rahilly & Robert A Scott doi:10.1038/ng0217-317c Top Advertisement Nature Biomedical Engineering - NOW LIVE The first issue of Nature Biomedical Engineering is now live and available for free.  Click here to access the issue. 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