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1) Integrated genomic characterization of adrenocortical carcinoma (Nature Genetics) Sunday April 20th 2014
Guillaume Assi, Eric Letouz, Martin Fassnacht, Anne Jouinot, Windy Luscap, Olivia Barreau, Hanin Omeiri, St, Karine Perlemoine, Fernande Ren, Nabila Elarouci, Silviu Sbiera, Matthias Kroiss, Bruno Allolio, Jens Waldmann, Marcus Quinkler, Massimo Mannelli, Franco Mantero, Thomas Papathomas, Ronald De Krijger, Antoine Tabarin, V, Eric Baudin, Fr, Bertrand Dousset, Lionel Groussin, Laurence Amar, Eric Clauser, Xavier Bertagna, Bruno Ragazzon, Felix Beuschlein, Rossella Lib, Aur, J

2) Recurrent activating mutation in PRKACA in cortisol-producing adrenal tumors (Nature Genetics) Sunday April 20th 2014
Gerald Goh, Ute I Scholl, James M Healy, Murim Choi, Manju L Prasad, Carol Nelson-Williams, John W Kuntsman, Reju Korah, Anna-Carinna Suttorp, Dimo Dietrich, Matthias Haase, Holger S Willenberg, Peter St, Per Hellman, G, Peyman Bj, Tobias Carling, Richard P Lifton

3) Triplication of a 21q22 region contributes to B cell transformation through HMGN1 overexpression and loss of histone H3 Lys27 trimethylation (Nature Genetics) Sunday April 20th 2014
Andrew A Lane, Bjoern Chapuy, Charles Y Lin, Trevor Tivey, Hubo Li, Elizabeth C Townsend, Diederik van Bodegom, Tovah A Day, Shuo-Chieh Wu, Huiyun Liu, Akinori Yoda, Gabriela Alexe, Anna C Schinzel, Timothy J Sullivan, S, Jordan E Taylor, Kimberly Stegmaier, Jacob D Jaffe, Michael Bustin, Geertruy te Kronnie, Shai Izraeli, Marian H Harris, Kristen E Stevenson, Donna Neuberg, Lewis B Silverman, Stephen E Sallan, James E Bradner, William C Hahn, John D Crispino, David Pellman, David M Weinstock

4) De novo mutations in HCN1 cause early infantile epileptic encephalopathy (Nature Genetics) Sunday April 20th 2014
Caroline Nava, Carine Dalle, Agn, Pasquale Striano, Carolien G F de Kovel, Rima Nabbout, Claude Canc, Doroth, Eva H Brilstra, Giuseppe Gobbi, Emmanuel Raffo, Delphine Bouteiller, Yannick Marie, Oriane Trouillard, Angela Robbiano, Boris Keren, Dahbia Agher, Emmanuel Roze, Suzanne Lesage, Aude Nicolas, Alexis Brice, Michel Baulac, Cornelia Vogt, Nady El Hajj, Eberhard Schneider, Arvid Suls, Sarah Weckhuysen, Padhraig Gormley, Anna-Elina Lehesjoki, Peter De Jonghe, Ingo Helbig, St, Federico Zara, Bobby P C Koeleman, Thomas Haaf, Eric LeGuern, Christel Depienne

5) Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia (Nature Genetics) Sunday April 20th 2014
Julia Wallmeier, Dalal A Al-Mutairi, Chun-Ting Chen, Niki Tomas Loges, Petra Pennekamp, Tabea Menchen, Lina Ma, Hanan E Shamseldin, Heike Olbrich, Gerard W Dougherty, Claudius Werner, Basel H Alsabah, Gabriele K, Martine Jaspers, Mieke Boon, Matthias Griese, Sabina Schmitt-Groh, Theodor Zimmermann, Cordula Koerner-Rettberg, Elisabeth Horak, Chris Kintner, Fowzan S Alkuraya, Heymut Omran

6) Association of a germline copy number polymorphism of APOBEC3A and APOBEC3B with burden of putative APOBEC-dependent mutations in breast cancer (Nature Genetics) Sunday April 13th 2014
Serena Nik-Zainal, David C Wedge, Ludmil B Alexandrov, Mia Petljak, Adam P Butler, Niccolo Bolli, Helen R Davies, Stian Knappskog, Sancha Martin, Elli Papaemmanuil, Manasa Ramakrishna, Adam Shlien, Ingrid Simonic, Yali Xue, Chris Tyler-Smith, Peter J Campbell, Michael R Stratton

7) Severe osteoarthritis of the hand associates with common variants within the ALDH1A2 gene and with rare variants at 1p31 (Nature Genetics) Sunday April 13th 2014
Unnur Styrkarsdottir, Gudmar Thorleifsson, Hafdis T Helgadottir, Nils Bomer, Sarah Metrustry, S Bierma-Zeinstra, Annelieke M Strijbosch, Evangelos Evangelou, Deborah Hart, Marian Beekman, Aslaug Jonasdottir, Asgeir Sigurdsson, Finnur F Eiriksson, Margret Thorsteinsdottir, Michael L Frigge, Augustine Kong, Sigurjon A Gudjonsson, Olafur T Magnusson, Gisli Masson, Albert Hofman, Nigel K Arden, Thorvaldur Ingvarsson, Stefan Lohmander, Margreet Kloppenburg, Fernando Rivadeneira, Rob G H H Nelissen, Tim Spector, Andre Uitterlinden, P Eline Slagboom, Unnur Thorsteinsdottir, Ingileif Jonsdottir, Ana M Valdes, Ingrid Meulenbelt, Joyce van Meurs, Helgi Jonsson, Kari Stefansson

8) Genomic analysis of diffuse intrinsic pontine gliomas identifies three molecular subgroups and recurrent activating ACVR1 mutations (Nature Genetics) Monday April 7th 2014
Pawel Buczkowicz, Christine Hoeman, Patricia Rakopoulos, Sanja Pajovic, Louis Letourneau, Misko Dzamba, Andrew Morrison, Peter Lewis, Eric Bouffet, Ute Bartels, Jennifer Zuccaro, Sameer Agnihotri, Scott Ryall, Mark Barszczyk, Yevgen Chornenkyy, Mathieu Bourgey, Guillaume Bourque, Alexandre Montpetit, Francisco Cordero, Pedro Castelo-Branco, Joshua Mangerel, Uri Tabori, King Ching Ho, Annie Huang, Kathryn R Taylor, Alan Mackay, Anne E Bendel, Javad Nazarian, Jason R Fangusaro, Matthias A Karajannis, David Zagzag, Nicholas K Foreman, Andrew Donson, Julia V Hegert, Amy Smith, Jennifer Chan, Lucy Lafay-Cousin, Sandra Dunn, Juliette Hukin, Chris Dunham, Katrin Scheinemann, Jean Michaud, Shayna Zelcer, David Ramsay, Jason Cain, Cameron Brennan, Mark M Souweidane, Chris Jones, C David Allis, Michael Brudno, Oren Becher, Cynthia Hawkins

9) Recurrent somatic mutations in ACVR1 in pediatric midline high-grade astrocytoma (Nature Genetics) Monday April 7th 2014
Adam M Fontebasso, Simon Papillon-Cavanagh, Jeremy Schwartzentruber, Hamid Nikbakht, Noha Gerges, Pierre-Olivier Fiset, Denise Bechet, Damien Faury, Nicolas De Jay, Lori A Ramkissoon, Aoife Corcoran, David T W Jones, Dominik Sturm, Pascal Johann, Tadanori Tomita, Stewart Goldman, Mahmoud Nagib, Anne Bendel, Liliana Goumnerova, Daniel C Bowers, Jeffrey R Leonard, Joshua B Rubin, Tord Alden, Samuel Browd, J Russell Geyer, Sarah Leary, George Jallo, Kenneth Cohen, Nalin Gupta, Michael D Prados, Anne-Sophie Carret, Benjamin Ellezam, Louis Crevier, Almos Klekner, Laszlo Bognar, Peter Hauser, Miklos Garami, John Myseros, Zhifeng Dong, Peter M Siegel, Hayley Malkin, Azra H Ligon, Steffen Albrecht, Stefan M Pfister, Keith L Ligon, Jacek Majewski, Nada Jabado, Mark W Kieran

10) De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome (Nature Genetics) Monday April 7th 2014
Ghayda M Mirzaa, David A Parry, Andrew E Fry, Kristin A Giamanco, Jeremy Schwartzentruber, Megan Vanstone, Clare V Logan, Nicola Roberts, Colin A Johnson, Shawn Singh, Stanislav S Kholmanskikh, Carissa Adams, Rebecca D Hodge, Robert F Hevner, David T Bonthron, Kees P J Braun, Laurence Faivre, Jean-Baptiste Rivi, Judith St-Onge, Karen W Gripp, Grazia M S Mancini, Ki Pang, Elizabeth Sweeney, Hilde van Esch, Nienke Verbeek, Dagmar Wieczorek, Michelle Steinraths, Jacek Majewski, Kym M Boycott, Daniela T Pilz, M Elizabeth Ross, William B Dobyns, Eamonn G Sheridan

11) Recurrent activating ACVR1 mutations in diffuse intrinsic pontine glioma (Nature Genetics) Monday April 7th 2014
Kathryn R Taylor, Alan Mackay, Nathal, Yaron S Butterfield, Olena Morozova, Cathy Philippe, David Castel, Catherine S Grasso, Maria Vinci, Diana Carvalho, Angel M Carcaboso, Carmen de Torres, Ofelia Cruz, Jaume Mora, Natacha Entz-Werle, Wendy J Ingram, Michelle Monje, Darren Hargrave, Alex N Bullock, St, Stephen Yip, Chris Jones, Jacques Grill

12) The genomic landscape of diffuse intrinsic pontine glioma and pediatric non-brainstem high-grade glioma (Nature Genetics) Monday April 7th 2014


13) Low copy number of the salivary amylase gene predisposes to obesity (Nature Genetics) Sunday March 30th 2014
Mario Falchi, Julia Sarah El-Sayed Moustafa, Petros Takousis, Francesco Pesce, Am, Johanna C Andersson-Assarsson, Peter H Sudmant, Rajkumar Dorajoo, Mashael Nedham Al-Shafai, Leonardo Bottolo, Erdal Ozdemir, Hon-Cheong So, Robert W Davies, Alexandre Patrice, Robert Dent, Massimo Mangino, Pirro G Hysi, Aur, Marl, Jane Skinner, Marie Pigeyre, Robert Caiazzo, Violeta Raverdy, Emmanuel Vaillant, Sarah Field, Beverley Balkau, Michel Marre, Sophie Visvikis-Siest, Jacques Weill, Odile Poulain-Godefroy, Peter Jacobson, Lars Sjostrom, Christopher J Hammond, Panos Deloukas, Pak Chung Sham, Ruth McPherson, Jeannette Lee, E Shyong Tai, Robert Sladek, Lena M S Carlsson, Andrew Walley, Evan E Eichler, Francois Pattou, Timothy D Spector, Philippe Froguel

14) Genomic and molecular characterization of esophageal squamous cell carcinoma (Nature Genetics) Sunday March 30th 2014
De-Chen Lin, Jia-Jie Hao, Yasunobu Nagata, Liang Xu, Li Shang, Xuan Meng, Yusuke Sato, Yusuke Okuno, Ana Maria Varela, Ling-Wen Ding, Manoj Garg, Li-Zhen Liu, Henry Yang, Dong Yin, Zhi-Zhou Shi, Yan-Yi Jiang, Wen-Yue Gu, Ting Gong, Yu Zhang, Xin Xu, Ori Kalid, Sharon Shacham, Seishi Ogawa, Ming-Rong Wang, H Phillip Koeffler

15) POT1 loss-of-function variants predispose to familial melanoma (Nature Genetics) Sunday March 30th 2014
Carla Daniela Robles-Espinoza, Mark Harland, Andrew J Ramsay, Lauren G Aoude, V, Zhihao Ding, Karen A Pooley, Antonia L Pritchard, Jessamy C Tiffen, Mia Petljak, Jane M Palmer, Judith Symmons, Peter Johansson, Mitchell S Stark, Michael G Gartside, Helen Snowden, Grant W Montgomery, Nicholas G Martin, Jimmy Z Liu, Jiyeon Choi, Matthew Makowski, Kevin M Brown, Alison M Dunning, Thomas M Keane, Carlos L, Nelleke A Gruis, Nicholas K Hayward, D Timothy Bishop, Julia A Newton-Bishop, David J Adams

16) Rare missense variants in POT1 predispose to familial cutaneous malignant melanoma (Nature Genetics) Sunday March 30th 2014
Jianxin Shi, Xiaohong R Yang, Bari Ballew, Melissa Rotunno, Donato Calista, Maria Concetta Fargnoli, Paola Ghiorzo, Brigitte Bressac-de Paillerets, Eduardo Nagore, Marie Francoise Avril, Neil E Caporaso, Mary L McMaster, Michael Cullen, Zhaoming Wang, Xijun Zhang, William Bruno, Lorenza Pastorino, Paola Queirolo, Jose Banuls-Roca, Zaida Garcia-Casado, Amaury Vaysse, Hamida Mohamdi, Yasser Riazalhosseini, Mario Foglio, Fan, Xing Hua, Paula L Hyland, Jinhu Yin, Haritha Vallabhaneni, Weihang Chai, Paola Minghetti, Cristina Pellegrini, Sarangan Ravichandran, Alexander Eggermont, Mark Lathrop, Ketty Peris, Giovanna Bianchi Scarra, Giorgio Landi, Sharon A Savage, Joshua N Sampson, Ji He, Meredith Yeager, Lynn R Goldin, Florence Demenais, Stephen J Chanock, Margaret A Tucker, Alisa M Goldstein, Yie Liu, Maria Teresa Landi

17) Recurrent SMARCA4 mutations in small cell carcinoma of the ovary (Nature Genetics) Monday March 24th 2014
Petar Jelinic, Jennifer J Mueller, Narciso Olvera, Fanny Dao, Sasinya N Scott, Ronak Shah, JianJiong Gao, Nikolaus Schultz, Mithat Gonen, Robert A Soslow, Michael F Berger, Douglas A Levine

18) TDP2 protects transcription from abortive topoisomerase activity and is required for normal neural function (Nature Genetics) Monday March 24th 2014
Fernando G, Janneke H M Schuurs-Hoeijmakers, Mark McCormack, Marie T Greally, Stuart Rulten, Roc, Timothy J Counihan, Elijah Chaila, Judith Conroy, Sean Ennis, Norman Delanty, Felipe Cort, Arjan P M de Brouwer, Gianpiero L Cavalleri, Sherif F El-Khamisy, Bert B A de Vries, Keith W Caldecott

19) GRM1 is upregulated through gene fusion and promoter swapping in chondromyxoid fibroma (Nature Genetics) Monday March 24th 2014
Karolin H Nord, Henrik Lilljebj, Francesco Vezzi, Jenny Nilsson, Linda Magnusson, Johnbosco Tayebwa, Danielle de Jong, Judith V M G Bov, Pancras C W Hogendoorn, Karoly Szuhai

20) Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type (Nature Genetics) Monday March 24th 2014
Leora Witkowski, Jian Carrot-Zhang, Steffen Albrecht, Somayyeh Fahiminiya, Nancy Hamel, Eva Tomiak, David Grynspan, Emmanouil Saloustros, Javad Nadaf, Barbara Rivera, Catherine Gilpin, Ester Castellsagu, Rachel Silva-Smith, Fran, Mona Wu, Avi Saskin, Madeleine Arseneault, Rouzan G Karabakhtsian, Elizabeth A Reilly, Frederick R Ueland, Anna Margiolaki, Kitty Pavlakis, Sharon M Castellino, Janez Lamovec, Helen J Mackay, Lawrence M Roth, Thomas M Ulbright, Tracey A Bender, Vassilis Georgoulias, Michel Longy, Andrew Berchuck, Marc Tischkowitz, Inga Nagel, Reiner Siebert, Colin J R Stewart, Jocelyne Arseneau, W Glenn McCluggage, Blaise A Clarke, Yasser Riazalhosseini, Martin Hasselblatt, Jacek Majewski, William D Foulkes

21) Systematic evaluation of coding variation identifies a candidate causal variant in TM6SF2 influencing total cholesterol and myocardial infarction risk (Nature Genetics) Sunday March 16th 2014
Oddgeir L Holmen, He Zhang, Yanbo Fan, Daniel H Hovelson, Ellen M Schmidt, Wei Zhou, Yanhong Guo, Ji Zhang, Arnulf Langhammer, Maja-Lisa L, Santhi K Ganesh, Lars Vatten, Frank Skorpen, H, Jifeng Zhang, Subramaniam Pennathur, Jin Chen, Carl Platou, Ellisiv B Mathiesen, Tom Wilsgaard, Inger Nj, Michael Boehnke, Y Eugene Chen, Gon, Kristian Hveem, Cristen J Willer

22) Recurrent PTPRB and PLCG1 mutations in angiosarcoma (Nature Genetics) Sunday March 16th 2014
Sam Behjati, Patrick S Tarpey, Helen Sheldon, Inigo Martincorena, Peter Van Loo, Gunes Gundem, David C Wedge, Manasa Ramakrishna, Susanna L Cooke, Nischalan Pillay, Hans Kristian M Vollan, Elli Papaemmanuil, Hans Koss, Tom D Bunney, Claire Hardy, Olivia R Joseph, Sancha Martin, Laura Mudie, Adam Butler, Jon W Teague, Meena Patil, Graham Steers, Yu Cao, Curtis Gumbs, Davis Ingram, Alexander J Lazar, Latasha Little, Harshad Mahadeshwar, Alexei Protopopov, Ghadah A Al Sannaa, Sahil Seth, Xingzhi Song, Jiabin Tang, Jianhua Zhang, Vinod Ravi, Keila E Torres, Bhavisha Khatri, Dina Halai, Ioannis Roxanis, Daniel Baumhoer, Roberto Tirabosco, M Fernanda Amary, Chris Boshoff, Ultan McDermott, Matilda Katan, Michael R Stratton, P Andrew Futreal, Adrienne M Flanagan, Adrian Harris, Peter J Campbell

23) Chalk5 encodes a vacuolar H+-translocating pyrophosphatase influencing grain chalkiness in rice (Nature Genetics) Sunday March 16th 2014
Yibo Li, Chuchuan Fan, Yongzhong Xing, Peng Yun, Lijun Luo, Bao Yan, Bo Peng, Weibo Xie, Gongwei Wang, Xianghua Li, Jinghua Xiao, Caiguo Xu, Yuqing He

24) Ancestry estimation and control of population stratification for sequence-based association studies (Nature Genetics) Sunday March 16th 2014
Chaolong Wang, Xiaowei Zhan, Jennifer Bragg-Gresham, Hyun Min Kang, Dwight Stambolian, Emily Y Chew, Kari E Branham, John Heckenlively, Robert Fulton, Richard K Wilson, Elaine R Mardis, Xihong Lin, Anand Swaroop, Sebastian Z, Gon

25) Mutations in TJP2 cause progressive cholestatic liver disease (Nature Genetics) Sunday March 9th 2014
Melissa Sambrotta, Sandra Strautnieks, Efterpi Papouli, Peter Rushton, Barnaby E Clark, David A Parry, Clare V Logan, Lucy J Newbury, Binita M Kamath, Simon Ling, Tassos Grammatikopoulos, Bart E Wagner, John C Magee, Ronald J Sokol, Giorgina Mieli-Vergani, Joshua D Smith, Colin A Johnson, Patricia McClean, Michael A Simpson, A S Knisely, Laura N Bull, Richard J Thompson

26) Selective propagation of functional mitochondrial DNA during oogenesis restricts the transmission of a deleterious mitochondrial variant (Nature Genetics) Sunday March 9th 2014
Jahda H Hill, Zhe Chen, Hong Xu

27) Loss-of-function mutations in SLC30A8 protect against type 2 diabetes (Nature Genetics) Monday March 3rd 2014
Jason Flannick, Gudmar Thorleifsson, Nicola L Beer, Suzanne B R Jacobs, Niels Grarup, No, Anubha Mahajan, Christian Fuchsberger, Gil Atzmon, Rafn Benediktsson, John Blangero, Don W Bowden, Ivan Brandslund, Julia Brosnan, Frank Burslem, John Chambers, Yoon Shin Cho, Cramer Christensen, Desir, Ravindranath Duggirala, Zachary Dymek, Yossi Farjoun, Timothy Fennell, Pierre Fontanillas, Tom Fors, Stacey Gabriel, Benjamin Glaser, Daniel F Gudbjartsson, Craig Hanis, Torben Hansen, Astradur B Hreidarsson, Kristian Hveem, Erik Ingelsson, Bo Isomaa, Stefan Johansson, Torben J, Marit Eika J, Sekar Kathiresan, Augustine Kong, Jaspal Kooner, Jasmina Kravic, Markku Laakso, Jong-Young Lee, Lars Lind, Cecilia M Lindgren, Allan Linneberg, Gisli Masson, Thomas Meitinger, Karen L Mohlke, Anders Molven, Andrew P Morris, Shobha Potluri, Rainer Rauramaa, Rasmus Ribel-Madsen, Ann-Marie Richard, Tim Rolph, Veikko Salomaa, Ayellet V Segr, Hanna Sk, Valgerdur Steinthorsdottir, Heather M Stringham, Patrick Sulem, E Shyong Tai, Yik Ying Teo, Tanya Teslovich, Unnur Thorsteinsdottir, Jeff K Trimmer, Tiinamaija Tuomi, Jaakko Tuomilehto, Fariba Vaziri-Sani, Benjamin F Voight, James G Wilson, Michael Boehnke, Mark I McCarthy, P, Oluf Pedersen, Leif Groop, David R Cox, Kari Stefansson, David Altshuler

28) An epigenetic mechanism of resistance to targeted therapy in T cell acute lymphoblastic leukemia (Nature Genetics) Monday March 3rd 2014
Birgit Knoechel, Justine E Roderick, Kaylyn E Williamson, Jiang Zhu, Jens G Lohr, Matthew J Cotton, Shawn M Gillespie, Daniel Fernandez, Manching Ku, Hongfang Wang, Federica Piccioni, Serena J Silver, Mohit Jain, Daniel Pearson, Michael J Kluk, Christopher J Ott, Leonard D Shultz, Michael A Brehm, Dale L Greiner, Alejandro Gutierrez, Kimberly Stegmaier, Andrew L Kung, David E Root, James E Bradner, Jon C Aster, Michelle A Kelliher, Bradley E Bernstein

29) A recurrent inactivating mutation in RHOA GTPase in angioimmunoblastic T cell lymphoma (Nature Genetics) Monday March 3rd 2014
Hae Yong Yoo, Min Kyung Sung, Seung Ho Lee, Sangok Kim, Haeseung Lee, Seongjin Park, Sang Cheol Kim, Byungwook Lee, Kyoohyoung Rho, Jong-Eun Lee, Kwang-Hwi Cho, Wankyu Kim, Hyunjung Ju, Jaesang Kim, Seok Jin Kim, Won Seog Kim, Sanghyuk Lee, Young Hyeh Ko

30) Pathogens and host immunity in the ancient human oral cavity (Nature Genetics) Monday February 24th 2014
Christina Warinner, Jo, Rounak Vyas, Christian Trachsel, Natallia Shved, Jonas Grossmann, Anita Radini, Y Hancock, Raul Y Tito, Sarah Fiddyment, Camilla Speller, Jessica Hendy, Sophy Charlton, Hans Ulrich Luder, Domingo C Salazar-Garc, Elisabeth Eppler, Roger Seiler, Lars H Hansen, Jos, Simon Barkow-Oesterreicher, Kai Yik Teoh, Christian D Kelstrup, Jesper V Olsen, Paolo Nanni, Toshihisa Kawai, Eske Willerslev, Christian von Mering, Cecil M Lewis, Matthew J Collins, M Thomas P Gilbert, Frank R, Enrico Cappellini

31) Direct measurement of transcription factor dissociation excludes a simple operator occupancy model for gene regulation (Nature Genetics) Monday February 24th 2014
Petter Hammar, Mats Walld, David Fange, Fredrik Persson, Özden Baltekin, Gustaf Ullman, Prune Leroy, Johan Elf

32) Recurrent somatic mutations of PTPN1 in primary mediastinal B cell lymphoma and Hodgkin lymphoma (Nature Genetics) Sunday February 16th 2014
Jay Gunawardana, Fong Chun Chan, Ad, Bruce Woolcock, Robert Kridel, King L Tan, Susana Ben-Neriah, Anja Mottok, Raymond S Lim, Merrill Boyle, Sanja Rogic, Lisa M Rimsza, Chrystelle Guiter, Karen Leroy, Philippe Gaulard, Corinne Haioun, Marco A Marra, Kerry J Savage, Joseph M Connors, Sohrab P Shah, Randy D Gascoyne, Christian Steidl

33) A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP (Nature Genetics) Sunday February 16th 2014
C, Anneke T Vulto-van Silfhout, Bradley P Coe, Geert Vandeweyer, Liesbeth Rooms, Jenneke van den Ende, Janneke H M Schuurs-Hoeijmakers, Carlo L Marcelis, Marjolein H Willemsen, Lisenka E L M Vissers, Helger G Yntema, Madhura Bakshi, Meredith Wilson, Kali T Witherspoon, Helena Malmgren, Ann Nordgren, G, Marco Fichera, Paolo Bosco, Corrado Romano, Bert B A de Vries, Tjitske Kleefstra, R Frank Kooy, Evan E Eichler, Nathalie Van der Aa

34) Exome-wide association study identifies a TM6SF2 variant that confers susceptibility to nonalcoholic fatty liver disease (Nature Genetics) Sunday February 16th 2014
Julia Kozlitina, Eriks Smagris, Stefan Stender, B, Heather H Zhou, Anne Tybj, Thomas F Vogt, Helen H Hobbs, Jonathan C Cohen

35) Dense genomic sampling identifies highways of pneumococcal recombination (Nature Genetics) Sunday February 9th 2014
Claire Chewapreecha, Simon R Harris, Nicholas J Croucher, Claudia Turner, Pekka Marttinen, Lu Cheng, Alberto Pessia, David M Aanensen, Alison E Mather, Andrew J Page, Susannah J Salter, David Harris, Francois Nosten, David Goldblatt, Jukka Corander, Julian Parkhill, Paul Turner, Stephen D Bentley

36) Mutation-dependent recessive inheritance of NPHS2-associated steroid-resistant nephrotic syndrome (Nature Genetics) Sunday February 9th 2014
K, D, St, Fabien Nevo, Olivier Gribouval, Andrea Kerti, P, Christelle Arrondel, Evelyne Huynh Cong, Tivadar Tulassay, G, Andr, Corinne Antignac

37) Identification of functional cooperative mutations of SETD2 in human acute leukemia (Nature Genetics) Sunday February 9th 2014
Xiaofan Zhu, Fuhong He, Huimin Zeng, Shaoping Ling, Aili Chen, Yaqin Wang, Xiaomei Yan, Wei Wei, Yakun Pang, Hui Cheng, Chunlan Hua, Yue Zhang, Xuejing Yang, Xin Lu, Lihua Cao, Lingtong Hao, Lili Dong, Wei Zou, Jun Wu, Xia Li, Si Zheng, Jin Yan, Jing Zhou, Lixia Zhang, Shuangli Mi, Xiaojuan Wang, Li Zhang, Yao Zou, Yumei Chen, Zhe Geng, Jianmin Wang, Jianfeng Zhou, Xin Liu, Jianxiang Wang, Weiping Yuan, Gang Huang, Tao Cheng, Qian-fei Wang

38) The deleterious mutation load is insensitive to recent population history (Nature Genetics) Sunday February 9th 2014
Yuval B Simons, Michael C Turchin, Jonathan K Pritchard, Guy Sella

39) Whole-genome sequence of a flatfish provides insights into ZW sex chromosome evolution and adaptation to a benthic lifestyle (Nature Genetics) Sunday February 2nd 2014
Songlin Chen, Guojie Zhang, Changwei Shao, Quanfei Huang, Geng Liu, Pei Zhang, Wentao Song, Na An, Domitille Chalopin, Jean-Nicolas Volff, Yunhan Hong, Qiye Li, Zhenxia Sha, Heling Zhou, Mingshu Xie, Qiulin Yu, Yang Liu, Hui Xiang, Na Wang, Kui Wu, Changgeng Yang, Qian Zhou, Xiaolin Liao, Linfeng Yang, Qiaomu Hu, Jilin Zhang, Liang Meng, Lijun Jin, Yongsheng Tian, Jinmin Lian, Jingfeng Yang, Guidong Miao, Shanshan Liu, Zhuo Liang, Fang Yan, Yangzhen Li, Bin Sun, Hong Zhang, Jing Zhang, Ying Zhu, Min Du, Yongwei Zhao, Manfred Schartl, Qisheng Tang, Jun Wang

40) Genomic architecture and evolution of clear cell renal cell carcinomas defined by multiregion sequencing (Nature Genetics) Sunday February 2nd 2014
Marco Gerlinger, Stuart Horswell, James Larkin, Andrew J Rowan, Max P Salm, Ignacio Varela, Rosalie Fisher, Nicholas McGranahan, Nicholas Matthews, Claudio R Santos, Pierre Martinez, Benjamin Phillimore, Sharmin Begum, Adam Rabinowitz, Bradley Spencer-Dene, Sakshi Gulati, Paul A Bates, Gordon Stamp, Lisa Pickering, Martin Gore, David L Nicol, Steven Hazell, P Andrew Futreal, Aengus Stewart, Charles Swanton

41) Lis1 regulates asymmetric division in hematopoietic stem cells and in leukemia (Nature Genetics) Sunday February 2nd 2014
Bryan Zimdahl, Takahiro Ito, Allen Blevins, Jeevisha Bajaj, Takaaki Konuma, Joi Weeks, Claire S Koechlein, Hyog Young Kwon, Omead Arami, David Rizzieri, H Elizabeth Broome, Charles Chuah, Vivian G Oehler, Roman Sasik, Gary Hardiman, Tannishtha Reya

42) Evolution and transmission of drug-resistant tuberculosis in a Russian population (Nature Genetics) Sunday January 26th 2014
Nicola Casali, Vladyslav Nikolayevskyy, Yanina Balabanova, Simon R Harris, Olga Ignatyeva, Irina Kontsevaya, Jukka Corander, Josephine Bryant, Julian Parkhill, Sergey Nejentsev, Rolf D Horstmann, Timothy Brown, Francis Drobniewski

43) Identification of low-frequency and rare sequence variants associated with elevated or reduced risk of type 2 diabetes (Nature Genetics) Sunday January 26th 2014
Valgerdur Steinthorsdottir, Gudmar Thorleifsson, Patrick Sulem, Hannes Helgason, Niels Grarup, Asgeir Sigurdsson, Hafdis T Helgadottir, Hrefna Johannsdottir, Olafur T Magnusson, Sigurjon A Gudjonsson, Johanne M Justesen, Marie N Harder, Marit E J, Cramer Christensen, Ivan Brandslund, Annelli Sandb, Torsten Lauritzen, Henrik Vestergaard, Allan Linneberg, Torben J, Torben Hansen, Maryam S Daneshpour, Mohammad-Sadegh Fallah, Astradur B Hreidarsson, Gunnar Sigurdsson, Fereidoun Azizi, Rafn Benediktsson, Gisli Masson, Agnar Helgason, Augustine Kong, Daniel F Gudbjartsson, Oluf Pedersen, Unnur Thorsteinsdottir, Kari Stefansson

44) Genome sequence of the hot pepper provides insights into the evolution of pungency in Capsicum species (Nature Genetics) Sunday January 19th 2014
Seungill Kim, Minkyu Park, Seon-In Yeom, Yong-Min Kim, Je Min Lee, Hyun-Ah Lee, Eunyoung Seo, Jaeyoung Choi, Kyeongchae Cheong, Ki-Tae Kim, Kyongyong Jung, Gir-Won Lee, Sang-Keun Oh, Chungyun Bae, Saet-Byul Kim, Hye-Young Lee, Shin-Young Kim, Myung-Shin Kim, Byoung-Cheorl Kang, Yeong Deuk Jo, Hee-Bum Yang, Hee-Jin Jeong, Won-Hee Kang, Jin-Kyung Kwon, Chanseok Shin, Jae Yun Lim, June Hyun Park, Jin Hoe Huh, June-Sik Kim, Byung-Dong Kim, Oded Cohen, Ilan Paran, Mi Chung Suh, Saet Buyl Lee, Yeon-Ki Kim, Younhee Shin, Seung-Jae Noh, Junhyung Park, Young Sam Seo, Suk-Yoon Kwon, Hyun A Kim, Jeong Mee Park, Hyun-Jin Kim, Sang-Bong Choi, Paul W Bosland, Gregory Reeves, Sung-Hwan Jo, Bong-Woo Lee, Hyung-Taeg Cho, Hee-Seung Choi, Min-Soo Lee, Yeisoo Yu, Yang Do Choi, Beom-Seok Park, Allen van Deynze, Hamid Ashrafi, Theresa Hill, Woo Taek Kim, Hyun-Sook Pai, Hee Kyung Ahn, Inhwa Yeam, James J Giovannoni, Jocelyn K C Rose, Iben S, Sang-Jik Lee, Ryan W Kim, Ik-Young Choi, Beom-Soon Choi, Jong-Sung Lim, Yong-Hwan Lee, Doil Choi

45) Genome of the human hookworm Necator americanus (Nature Genetics) Sunday January 19th 2014
Yat T Tang, Xin Gao, Bruce A Rosa, Sahar Abubucker, Kymberlie Hallsworth-Pepin, John Martin, Rahul Tyagi, Esley Heizer, Xu Zhang, Veena Bhonagiri-Palsikar, Patrick Minx, Wesley C Warren, Qi Wang, Bin Zhan, Peter J Hotez, Paul W Sternberg, Annette Dougall, Soraya Torres Gaze, Jason Mulvenna, Javier Sotillo, Shoba Ranganathan, Elida M Rabelo, Richard K Wilson, Philip L Felgner, Jeffrey Bethony, John M Hawdon, Robin B Gasser, Alex Loukas, Makedonka Mitreva

46) Pancreatic islet enhancer clusters enriched in type 2 diabetes risk-associated variants (Nature Genetics) Monday January 13th 2014
Lorenzo Pasquali, Kyle J Gaulton, Santiago A Rodr, Loris Mularoni, Irene Miguel-Escalada, İldem Akerman, Juan J Tena, Ignasi Mor, Carlos G, Martijn van de Bunt, Joan Ponsa-Cobas, Natalia Castro, Takao Nammo, In, Javier Garc, Miguel Angel Maestro, Fran, Lorenzo Piemonti, Thierry Berney, Anna L Gloyn, Philippe Ravassard, Jos, Ferenc M, Mark I McCarthy, Jorge Ferrer

47) Exome sequencing identifies BRAF mutations in papillary craniopharyngiomas (Nature Genetics) Monday January 13th 2014
Priscilla K Brastianos, Amaro Taylor-Weiner, Peter E Manley, Robert T Jones, Dora Dias-Santagata, Aaron R Thorner, Michael S Lawrence, Fausto J Rodriguez, Lindsay A Bernardo, Laura Schubert, Ashwini Sunkavalli, Nick Shillingford, Monica L Calicchio, Hart G W Lidov, Hala Taha, Maria Martinez-Lage, Mariarita Santi, Phillip B Storm, John Y K Lee, James N Palmer, Nithin D Adappa, R Michael Scott, Ian F Dunn, Edward R Laws, Chip Stewart, Keith L Ligon, Mai P Hoang, Paul Van Hummelen, William C Hahn, David N Louis, Adam C Resnick, Mark W Kieran, Gad Getz, Sandro Santagata

48) Recurrent mutations in epigenetic regulators, RHOA and FYN kinase in peripheral T cell lymphomas (Nature Genetics) Monday January 13th 2014
Teresa Palomero, Lucile Couronn, Hossein Khiabanian, Mi-Yeon Kim, Alberto Ambesi-Impiombato, Arianne Perez-Garcia, Zachary Carpenter, Francesco Abate, Maddalena Allegretta, J Erika Haydu, Xiaoyu Jiang, Izidore S Lossos, Concha Nicolas, Milagros Balbin, Christian Bastard, Govind Bhagat, Miguel A Piris, Elias Campo, Olivier A Bernard, Raul Rabadan, Adolfo A Ferrando

49) Somatic RHOA mutation in angioimmunoblastic T cell lymphoma (Nature Genetics) Monday January 13th 2014
Mamiko Sakata-Yanagimoto, Terukazu Enami, Kenichi Yoshida, Yuichi Shiraishi, Ryohei Ishii, Yasuyuki Miyake, Hideharu Muto, Naoko Tsuyama, Aiko Sato-Otsubo, Yusuke Okuno, Seiji Sakata, Yuhei Kamada, Rie Nakamoto-Matsubara, Nguyen Bich Tran, Koji Izutsu, Yusuke Sato, Yasunori Ohta, Junichi Furuta, Seiichi Shimizu, Takuya Komeno, Yuji Sato, Takayoshi Ito, Masayuki Noguchi, Emiko Noguchi, Masashi Sanada, Kenichi Chiba, Hiroko Tanaka, Kazumi Suzukawa, Toru Nanmoku, Yuichi Hasegawa, Osamu Nureki, Satoru Miyano, Naoya Nakamura, Kengo Takeuchi, Seishi Ogawa, Shigeru Chiba

50) Analysis of hundreds of cis-regulatory landscapes at high resolution in a single, high-throughput experiment (Nature Genetics) Monday January 13th 2014
Jim R Hughes, Nigel Roberts, Simon McGowan, Deborah Hay, Eleni Giannoulatou, Magnus Lynch, Marco De Gobbi, Stephen Taylor, Richard Gibbons, Douglas R Higgs

51) A prostate cancer susceptibility allele at 6q22 increases RFX6 expression by modulating HOXB13 chromatin binding (Nature Genetics) Sunday January 5th 2014
Qilai Huang, Thomas Whitington, Ping Gao, Johan F Lindberg, Yuehong Yang, Jielin Sun, Marja-Riitta V, Robert Szulkin, Matti Annala, Jian Yan, Lars A Egevad, Kai Zhang, Ruizhu Lin, Arttu Jolma, Matti Nykter, Aki Manninen, Fredrik Wiklund, Markku H Vaarala, Tapio Visakorpi, Jianfeng Xu, Jussi Taipale, Gong-Hong Wei

52) Antagonistic roles of ubiquitin ligase HEI10 and SUMO ligase RNF212 regulate meiotic recombination (Nature Genetics) Sunday January 5th 2014
Huanyu Qiao, H B D Prasada Rao, Ye Yang, Jared H Fong, Jeffrey M Cloutier, Dekker C Deacon, Kathryn E Nagel, Rebecca K Swartz, Edward Strong, J Kim Holloway, Paula E Cohen, John Schimenti, Jeremy Ward, Neil Hunter

53) Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas (Nature Genetics) Monday December 23rd 2013
Arkadiusz Piotrowski, Jing Xie, Ying F Liu, Andrzej B Poplawski, Alicia R Gomes, Piotr Madanecki, Chuanhua Fu, Michael R Crowley, David K Crossman, Linlea Armstrong, Dusica Babovic-Vuksanovic, Amanda Bergner, Jaishri O Blakeley, Andrea L Blumenthal, Molly S Daniels, Howard Feit, Kathy Gardner, Stephanie Hurst, Christine Kobelka, Chung Lee, Rebecca Nagy, Katherine A Rauen, John M Slopis, Pim Suwannarat, Judith A Westman, Andrea Zanko, Bruce R Korf, Ludwine M Messiaen

54) Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database (Nature Genetics) Monday December 23rd 2013
Bryony A Thompson, Amanda B Spurdle, John-Paul Plazzer, Marc S Greenblatt, Kiwamu Akagi, Fahd Al-Mulla, Bharati Bapat, Inge Bernstein, Gabriel Capell, Johan T den Dunnen, Desiree du Sart, Aurelie Fabre, Michael P Farrell, Susan M Farrington, Ian M Frayling, Thierry Frebourg, David E Goldgar, Christopher D Heinen, Elke Holinski-Feder, Maija Kohonen-Corish, Kristina Lagerstedt Robinson, Suet Yi Leung, Alexandra Martins, Pal Moller, Monika Morak, Minna Nystrom, Paivi Peltomaki, Marta Pineda, Ming Qi, Rajkumar Ramesar, Lene Juel Rasmussen, Brigitte Royer-Pokora, Rodney J Scott, Rolf Sijmons, Sean V Tavtigian, Carli M Tops, Thomas Weber, Juul Wijnen, Michael O Woods, Finlay Macrae, Maurizio Genuardi

55) Ionic leakage underlies a gain-of-function effect of dominant disease mutations affecting diverse P-type ATPases (Nature Genetics) Sunday December 15th 2013
Maki Kaneko, Bela S Desai, Boaz Cook

56) Therapeutic modulation of eIF2 (Nature Genetics) Sunday December 15th 2013
Hyung-Jun Kim, Alya R Raphael, Eva S LaDow, Leeanne McGurk, Ross A Weber, John Q Trojanowski, Virginia M-Y Lee, Steven Finkbeiner, Aaron D Gitler, Nancy M Bonini

57) Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling (Nature Genetics) Sunday December 15th 2013
Clare V Logan, Gy, Jenny A Sharpe, David A Parry, Silvia Torelli, Anne-Marie Childs, Marjolein Kriek, Rahul Phadke, Colin A Johnson, Nicola Y Roberts, David T Bonthron, Karen A Pysden, Tamieka Whyte, Iulia Munteanu, A Reghan Foley, Gabrielle Wheway, Katarzyna Szymanska, Subaashini Natarajan, Zakia A Abdelhamed, Joanne E Morgan, Helen Roper, Gijs W E Santen, Erik H Niks, W Ludo van der Pol, Dick Lindhout, Anna Raffaello, Diego De Stefani, Johan T den Dunnen, Yu Sun, Ieke Ginjaar, Caroline A Sewry, Matthew Hurles, Rosario Rizzuto, Michael R Duchen, Francesco Muntoni, Eamonn Sheridan

58) Meta-analysis of gene-level tests for rare variant association (Nature Genetics) Sunday December 15th 2013
Dajiang J Liu, Gina M Peloso, Xiaowei Zhan, Oddgeir L Holmen, Matthew Zawistowski, Shuang Feng, Majid Nikpay, Paul L Auer, Anuj Goel, He Zhang, Ulrike Peters, Martin Farrall, Marju Orho-Melander, Charles Kooperberg, Ruth McPherson, Hugh Watkins, Cristen J Willer, Kristian Hveem, Olle Melander, Sekar Kathiresan, Gon

59) Transposon mutagenesis identifies genes driving hepatocellular carcinoma in a chronic hepatitis B mouse model (Nature Genetics) Monday December 9th 2013
Emilie A Bard-Chapeau, Anh-Tuan Nguyen, Alistair G Rust, Ahmed Sayadi, Philip Lee, Belinda Q Chua, Lee-Sun New, Johann de Jong, Jerrold M Ward, Christopher K Y Chin, Valerie Chew, Han Chong Toh, Jean-Pierre Abastado, Touati Benoukraf, Richie Soong, Frederic A Bard, Adam J Dupuy, Randy L Johnson, George K Radda, Eric Chun Yong Chan, Lodewyk F A Wessels, David J Adams, Nancy A Jenkins, Neal G Copeland

60) Fusion of TTYH1 with the C19MC microRNA cluster drives expression of a brain-specific DNMT3B isoform in the embryonal brain tumor ETMR (Nature Genetics) Monday December 9th 2013
Claudia L Kleinman, Noha Gerges, Simon Papillon-Cavanagh, Patrick Sin-Chan, Albena Pramatarova, Dong-Anh Khuong Quang, V, Stephan Busche, Maxime Caron, Haig Djambazian, Amandine Bemmo, Adam M Fontebasso, Tara Spence, Jeremy Schwartzentruber, Steffen Albrecht, Peter Hauser, Miklos Garami, Almos Klekner, Laszlo Bognar, Jose-Luis Montes, Alfredo Staffa, Alexandre Montpetit, Pierre Berube, Magdalena Zakrzewska, Krzysztof Zakrzewski, Pawel P Liberski, Zhifeng Dong, Peter M Siegel, Thomas Duchaine, Christian Perotti, Adam Fleming, Damien Faury, Marc Remke, Marco Gallo, Peter Dirks, Michael D Taylor, Robert Sladek, Tomi Pastinen, Jennifer A Chan, Annie Huang, Jacek Majewski, Nada Jabado

61) Genetic variation of a bacterial pathogen within individuals with cystic fibrosis provides a record of selective pressures (Nature Genetics) Monday December 9th 2013
Tami D Lieberman, Kelly B Flett, Idan Yelin, Thomas R Martin, Alexander J McAdam, Gregory P Priebe, Roy Kishony

62) Inactivating CUX1 mutations promote tumorigenesis (Nature Genetics) Monday December 9th 2013
Chi C Wong, Inigo Martincorena, Alistair G Rust, Mamunur Rashid, Constantine Alifrangis, Ludmil B Alexandrov, Jessamy C Tiffen, Christina Kober, Anthony R Green, Charles E Massie, Jyoti Nangalia, Stella Lempidaki, Hartmut D, Konstanze D, Sarah J Bray, Ultan McDermott, Elli Papaemmanuil, Peter J Campbell, David J Adams

63) EIF2AK4 mutations cause pulmonary veno-occlusive disease, a recessive form of pulmonary hypertension (Nature Genetics) Sunday December 1st 2013
M, David Montani, Barbara Girerd, Claire Perret, Anne Leroy, Christine Lonjou, Nadjim Chelghoum, Florence Coulet, Damien Bonnet, Peter Dorfm, Elie Fadel, Olivier Sitbon, G, David-Alexandre Tregou, Marc Humbert, Florent Soubrier

64) A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia (Nature Genetics) Sunday December 1st 2013
Helen E Speedy, Maria Chiara Di Bernardo, Georgina P Sava, Martin J S Dyer, Amy Holroyd, Yufei Wang, Nicola J Sunter, Larry Mansouri, Gunnar Juliusson, Karin E Smedby, G, Sandrine Jayne, Aneela Majid, Claire Dearden, Andrew G Hall, Tryfonia Mainou-Fowler, Graham H Jackson, Geoffrey Summerfield, Robert J Harris, Andrew R Pettitt, David J Allsup, James R Bailey, Guy Pratt, Chris Pepper, Chris Fegan, Richard Rosenquist, Daniel Catovsky, James M Allan, Richard S Houlston

65) Large conserved domains of low DNA methylation maintained by Dnmt3a (Nature Genetics) Sunday November 24th 2013
Mira Jeong, Deqiang Sun, Min Luo, Yun Huang, Grant A Challen, Benjamin Rodriguez, Xiaotian Zhang, Lukas Chavez, Hui Wang, Rebecca Hannah, Sang-Bae Kim, Liubin Yang, Myunggon Ko, Rui Chen, Berthold G, Ju-Seog Lee, Preethi Gunaratne, Lucy A Godley, Gretchen J Darlington, Anjana Rao, Wei Li, Margaret A Goodell

66) Common and low-frequency variants associated with genome-wide recombination rate (Nature Genetics) Sunday November 24th 2013
Augustine Kong, Gudmar Thorleifsson, Michael L Frigge, Gisli Masson, Daniel F Gudbjartsson, Rasmus Villemoes, Erna Magnusdottir, Stefania B Olafsdottir, Unnur Thorsteinsdottir, Kari Stefansson

67) High prevalence of MAP2K1 mutations in variant and IGHV4-34 (Nature Genetics) Monday November 18th 2013
Joshua J Waterfall, Evgeny Arons, Robert L Walker, Marbin Pineda, Laura Roth, J Keith Killian, Ogan D Abaan, Sean R Davis, Robert J Kreitman, Paul S Meltzer

68) A genome-wide association study identifies CDHR3 as a susceptibility locus for early childhood asthma with severe exacerbations (Nature Genetics) Monday November 18th 2013
Klaus B, Patrick Sleiman, Kasper Nielsen, Eskil Kreiner-M, Josep M Mercader, Danielle Belgrave, Herman T den Dekker, Anders Husby, Astrid Sevelsted, Grissel Faura-Tellez, Li Juel Mortensen, Lavinia Paternoster, Richard Flaaten, Anne M, David E Smart, Philip F Thomsen, Morten A Rasmussen, Silvia Bon, Claus Holst, Ellen A Nohr, Rachita Yadav, Michael E March, Thomas Blicher, Peter M Lackie, Vincent W V Jaddoe, Angela Simpson, John W Holloway, Liesbeth Duijts, Adnan Custovic, Donna E Davies, David Torrents, Ramneek Gupta, Mads V Hollegaard, David M Hougaard, Hakon Hakonarson, Hans Bisgaard

69) Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome (Nature Genetics) Monday November 18th 2013
S, Dagan Jenkins, Estelle Chanudet, Guergana Tasseva, Miho Ishida, Glenn Anderson, James Docker, Mina Ryten, Joaquim Sa, Jorge M Saraiva, Angela Barnicoat, Richard Scott, Alistair Calder, Duangrurdee Wattanasirichaigoon, Krystyna Chrzanowska, Martina Simandlov, Lionel Van Maldergem, Philip Stanier, Philip L Beales, Jean E Vance, Gudrun E Moore

70) Genome-wide association study using cellular traits identifies a new regulator of root development in Arabidopsis (Nature Genetics) Sunday November 10th 2013
M, Santosh B Satbhai, Takashi Tsuchimatsu, Wolfgang Busch

71) A large-scale screen for coding variants predisposing to psoriasis (Nature Genetics) Sunday November 10th 2013
Huayang Tang, Xin Jin, Yang Li, Hui Jiang, Xianfa Tang, Xu Yang, Hui Cheng, Ying Qiu, Gang Chen, Junpu Mei, Fusheng Zhou, Renhua Wu, Xianbo Zuo, Yong Zhang, Xiaodong Zheng, Qi Cai, Xianyong Yin, Cheng Quan, Haojing Shao, Yong Cui, Fangzhen Tian, Xia Zhao, Hong Liu, Fengli Xiao, Fengping Xu, Jianwen Han, Dongmei Shi, Anping Zhang, Cheng Zhou, Qibin Li, Xing Fan, Liya Lin, Hongqing Tian, Zaixing Wang, Huiling Fu, Fang Wang, Baoqi Yang, Shaowei Huang, Bo Liang, Xuefeng Xie, Yunqing Ren, Qingquan Gu, Guangdong Wen, Yulin Sun, Xueli Wu, Lin Dang, Min Xia, Junjun Shan, Tianhang Li, Lin Yang, Xiuyun Zhang, Yuzhen Li, Chundi He, Aie Xu, Liping Wei, Xiaohang Zhao, Xinghua Gao, Jinhua Xu, Furen Zhang, Jianzhong Zhang, Yingrui Li, Liangdan Sun, Jianjun Liu, Runsheng Chen, Sen Yang, Jun Wang, Xuejun Zhang

72) Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis (Nature Genetics) Sunday November 10th 2013
Michael N Weedon, In, Ann-Marie Patch, Sarah E Flanagan, Elisa De Franco, Richard Caswell, Santiago A Rodr, Charles Shaw-Smith, Candy H-H Cho, Hana Lango Allen, Jayne A L Houghton, Christian L Roth, Rongrong Chen, Khalid Hussain, Phil Marsh, Ludovic Vallier, Anna Murray, Sian Ellard, Jorge Ferrer, Andrew T Hattersley

73) ESR1 ligand-binding domain mutations in hormone-resistant breast cancer (Nature Genetics) Sunday November 3rd 2013
Weiyi Toy, Yang Shen, Helen Won, Bradley Green, Rita A Sakr, Marie Will, Zhiqiang Li, Kinisha Gala, Sean Fanning, Tari A King, Clifford Hudis, David Chen, Tetiana Taran, Gabriel Hortobagyi, Geoffrey Greene, Michael Berger, Jos, Sarat Chandarlapaty

74) Exome sequencing identifies distinct mutational patterns in liver fluke (Nature Genetics) Sunday November 3rd 2013
Waraporn Chan-on, Maarja-Liisa Nairism, Choon Kiat Ong, Weng Khong Lim, Simona Dima, Chawalit Pairojkul, Kiat Hon Lim, John R McPherson, Ioana Cutcutache, Hong Lee Heng, London Ooi, Alexander Chung, Pierce Chow, Peng Chung Cheow, Ser Yee Lee, Su Pin Choo, Iain Bee Huat Tan, Dan Duda, Anca Nastase, Swe Swe Myint, Bernice Huimin Wong, Anna Gan, Vikneswari Rajasegaran, Cedric Chuan Young Ng, Sanjanaa Nagarajan, Apinya Jusakul, Shenli Zhang, Priya Vohra, Willie Yu, DaChuan Huang, Paiboon Sithithaworn, Puangrat Yongvanit, Sopit Wongkham, Narong Khuntikeo, Vajaraphongsa Bhudhisawasdi, Irinel Popescu, Steven G Rozen, Patrick Tan, Bin Tean Teh

75) Somatic mutation of CDKN1B in small intestine neuroendocrine tumors (Nature Genetics) Sunday November 3rd 2013
Joshua M Francis, Adam Kiezun, Alex H Ramos, Stefano Serra, Chandra Sekhar Pedamallu, Zhi Rong Qian, Michaela S Banck, Rahul Kanwar, Amit A Kulkarni, Anna Karpathakis, Veronica Manzo, Tanupriya Contractor, Juliet Philips, Elizabeth Nickerson, Nam Pho, Susanne M Hooshmand, Lauren K Brais, Michael S Lawrence, Trevor Pugh, Aaron McKenna, Andrey Sivachenko, Kristian Cibulskis, Scott L Carter, Akinyemi I Ojesina, Samuel Freeman, Robert T Jones, Douglas Voet, Gordon Saksena, Daniel Auclair, Robert Onofrio, Erica Shefler, Carrie Sougnez, Jonna Grimsby, Lisa Green, Niall Lennon, Tim Meyer, Martyn Caplin, Daniel C Chung, Andreas S Beutler, Shuji Ogino, Christina Thirlwell, Ramesh Shivdasani, Sylvia L Asa, Chris R Harris, Gad Getz, Matthew Kulke, Matthew Meyerson

76) Exome sequencing identifies frequent inactivating mutations in BAP1, ARID1A and PBRM1 in intrahepatic cholangiocarcinomas (Nature Genetics) Sunday November 3rd 2013
Yuchen Jiao, Timothy M Pawlik, Robert A Anders, Florin M Selaru, Mirte M Streppel, Donald J Lucas, Noushin Niknafs, Violeta Beleva Guthrie, Anirban Maitra, Pedram Argani, G Johan A Offerhaus, Juan Carlos Roa, Lewis R Roberts, Gregory J Gores, Irinel Popescu, Sorin T Alexandrescu, Simona Dima, Matteo Fassan, Michele Simbolo, Andrea Mafficini, Paola Capelli, Rita T Lawlor, Andrea Ruzzenente, Alfredo Guglielmi, Giampaolo Tortora, Filippo de Braud, Aldo Scarpa, William Jarnagin, David Klimstra, Rachel Karchin, Victor E Velculescu, Ralph H Hruban, Bert Vogelstein, Kenneth W Kinzler, Nickolas Papadopoulos, Laura D Wood

77) Activating ESR1 mutations in hormone-resistant metastatic breast cancer (Nature Genetics) Sunday November 3rd 2013
Dan R Robinson, Yi-Mi Wu, Pankaj Vats, Fengyun Su, Robert J Lonigro, Xuhong Cao, Shanker Kalyana-Sundaram, Rui Wang, Yu Ning, Lynda Hodges, Amy Gursky, Javed Siddiqui, Scott A Tomlins, Sameek Roychowdhury, Kenneth J Pienta, Scott Y Kim, J Scott Roberts, James M Rae, Catherine H Van Poznak, Daniel F Hayes, Rashmi Chugh, Lakshmi P Kunju, Moshe Talpaz, Anne F Schott, Arul M Chinnaiyan

78) Genomic analyses identify distinct patterns of selection in domesticated pigs and Tibetan wild boars (Nature Genetics) Sunday October 27th 2013
Mingzhou Li, Shilin Tian, Long Jin, Guangyu Zhou, Ying Li, Yuan Zhang, Tao Wang, Carol K L Yeung, Lei Chen, Jideng Ma, Jinbo Zhang, Anan Jiang, Ji Li, Chaowei Zhou, Jie Zhang, Yingkai Liu, Xiaoqing Sun, Hongwei Zhao, Zexiong Niu, Pinger Lou, Lingjin Xian, Xiaoyong Shen, Shaoqing Liu, Shunhua Zhang, Mingwang Zhang, Li Zhu, Surong Shuai, Lin Bai, Guoqing Tang, Haifeng Liu, Yanzhi Jiang, Miaomiao Mai, Jian Xiao, Xun Wang, Qi Zhou, Zhiquan Wang, Paul Stothard, Ming Xue, Xiaolian Gao, Zonggang Luo, Yiren Gu, Hongmei Zhu, Xiaoxiang Hu, Yaofeng Zhao, Graham S Plastow, Jinyong Wang, Zhi Jiang, Kui Li, Ning Li, Xuewei Li, Ruiqiang Li

79) Distinct H3F3A and H3F3B driver mutations define chondroblastoma and giant cell tumor of bone (Nature Genetics) Sunday October 27th 2013
Sam Behjati, Patrick S Tarpey, Nad, Susanne Scheipl, Nischalan Pillay, Peter Van Loo, David C Wedge, Susanna L Cooke, Gunes Gundem, Helen Davies, Serena Nik-Zainal, Sancha Martin, Stuart McLaren, Victoria Goodie, Ben Robinson, Adam Butler, Jon W Teague, Dina Halai, Bhavisha Khatri, Ola Myklebost, Daniel Baumhoer, Gernot Jundt, Rifat Hamoudi, Roberto Tirabosco, M Fernanda Amary, P Andrew Futreal, Michael R Stratton, Peter J Campbell, Adrienne M Flanagan

80) Vitamin C modulates TET1 function during somatic cell reprogramming (Nature Genetics) Sunday October 27th 2013
Jiekai Chen, Lin Guo, Lei Zhang, Haoyu Wu, Jiaqi Yang, He Liu, Xiaoshan Wang, Xiao Hu, Tianpeng Gu, Zhiwei Zhou, Jing Liu, Jiadong Liu, Hongling Wu, Shi-Qing Mao, Kunlun Mo, Yingying Li, Keyu Lai, Jing Qi, Hongjie Yao, Guangjin Pan, Guo-Liang Xu, Duanqing Pei

81) New loci associated with chronic hepatitis B virus infection in Han Chinese (Nature Genetics) Sunday October 27th 2013
Zhibin Hu, Yao Liu, Xiangjun Zhai, Juncheng Dai, Guangfu Jin, Li Wang, Liguo Zhu, Yuan Yang, Jibin Liu, Minjie Chu, Juan Wen, Kaipeng Xie, Guoming Du, Qungang Wang, Yuchun Zhou, Minquan Cao, Li Liu, Yisha He, Ying Wang, Gangqiao Zhou, Weihua Jia, Jiachun Lu, Shengping Li, Jianjun Liu, Haitao Yang, Yongyong Shi, Weiping Zhou, Hongbing Shen

82) Inherited GATA3 variants are associated with Ph-like childhood acute lymphoblastic leukemia and risk of relapse (Nature Genetics) Sunday October 20th 2013
Virginia Perez-Andreu, Kathryn G Roberts, Richard C Harvey, Wenjian Yang, Cheng Cheng, Deqing Pei, Heng Xu, Julie Gastier-Foster, Shuyu E, Joshua Yew-Suang Lim, I-Ming Chen, Yiping Fan, Meenakshi Devidas, Michael J Borowitz, Colton Smith, Geoffrey Neale, Esteban G Burchard, Dara G Torgerson, Federico Antillon Klussmann, Cesar Rolando Najera Villagran, Naomi J Winick, Bruce M Camitta, Elizabeth Raetz, Brent Wood, Feng Yue, William L Carroll, Eric Larsen, W Paul Bowman, Mignon L Loh, Michael Dean, Deepa Bhojwani, Ching-Hon Pui, William E Evans, Mary V Relling, Stephen P Hunger, Cheryl L Willman, Charles G Mullighan, Jun J Yang

83) A genomic variation map provides insights into the genetic basis of cucumber domestication and diversity (Nature Genetics) Sunday October 20th 2013
Jianjian Qi, Xin Liu, Di Shen, Han Miao, Bingyan Xie, Xixiang Li, Peng Zeng, Shenhao Wang, Yi Shang, Xingfang Gu, Yongchen Du, Ying Li, Tao Lin, Jinhong Yuan, Xueyong Yang, Jinfeng Chen, Huiming Chen, Xingyao Xiong, Ke Huang, Zhangjun Fei, Linyong Mao, Li Tian, Thomas St, Susanne S Renner, Sophien Kamoun, William J Lucas, Zhonghua Zhang, Sanwen Huang

84) Evaluating empirical bounds on complex disease genetic architecture (Nature Genetics) Sunday October 20th 2013
Vineeta Agarwala, Jason Flannick, Shamil Sunyaev, David Altshuler

85) Frequent truncating mutations of STAG2 in bladder cancer (Nature Genetics) Sunday October 13th 2013
David A Solomon, Jung-Sik Kim, Jolanta Bondaruk, Shahrokh F Shariat, Zeng-Feng Wang, Abdel G Elkahloun, Tomoko Ozawa, Julia Gerard, DaZhong Zhuang, Shizhen Zhang, Neema Navai, Arlene Siefker-Radtke, Joanna J Phillips, Brian D Robinson, Mark A Rubin, Bj, Richard Hautmann, Rainer K, Pancras C W Hogendoorn, George Netto, Dan Theodorescu, C David James, Bogdan Czerniak, Markku Miettinen, Todd Waldman

86) Recurrent inactivation of STAG2 in bladder cancer is not associated with aneuploidy (Nature Genetics) Sunday October 13th 2013
Cristina Balb, Ana Sagrera, Enrique Carrillo-de-Santa-Pau, Julie Earl, Mirari M, Miguel Vazquez, Eleonora Lapi, Francesc Castro-Giner, Sergi Beltran, M, Alfredo Carrato, Juan C Cigudosa, Orlando Dom, Marta Gut, Jes, N, Manolis Kogevinas, Xavier Langa, Elena L, Jos, Josep Lloreta, David G Pisano, Laia Richart, Daniel Rico, Roc, Adonina Tard, Stephen Chanock, Simon Heath, Alfonso Valencia, Ana Losada, Ivo Gut, N, Francisco X Real

87) Whole-genome and whole-exome sequencing of bladder cancer identifies frequent alterations in genes involved in sister chromatid cohesion and segregation (Nature Genetics) Sunday October 13th 2013
Guangwu Guo, Xiaojuan Sun, Chao Chen, Song Wu, Peide Huang, Zesong Li, Michael Dean, Yi Huang, Wenlong Jia, Quan Zhou, Aifa Tang, Zuoquan Yang, Xianxin Li, Pengfei Song, Xiaokun Zhao, Rui Ye, Shiqiang Zhang, Zhao Lin, Mingfu Qi, Shengqing Wan, Liangfu Xie, Fan Fan, Michael L Nickerson, Xiangjun Zou, Xueda Hu, Li Xing, Zhaojie Lv, Hongbin Mei, Shengjie Gao, Chaozhao Liang, Zhibo Gao, Jingxiao Lu, Yuan Yu, Chunxiao Liu, Lin Li, Xiaodong Fang, Zhimao Jiang, Jie Yang, Cailing Li, Xin Zhao, Jing Chen, Fang Zhang, Yongqi Lai, Zheguang Lin, Fangjian Zhou, Hao Chen, Hsiao Chang Chan, Shirley Tsang, Dan Theodorescu, Yingrui Li, Xiuqing Zhang, Jian Wang, Huanming Yang, Yaoting Gui, Jun Wang, Zhiming Cai

88) A genome-wide association study identifies new susceptibility loci for esophageal (Nature Genetics) Sunday October 13th 2013
David M Levine, Weronica E Ek, Rui Zhang, Xinxue Liu, Lynn Onstad, Cassandra Sather, Pierre Lao-Sirieix, Marilie D Gammon, Douglas A Corley, Nicholas J Shaheen, Nigel C Bird, Laura J Hardie, Liam J Murray, Brian J Reid, Wong-Ho Chow, Harvey A Risch, Olof Nyr, Weimin Ye, Geoffrey Liu, Yvonne Romero, Leslie Bernstein, Anna H Wu, Alan G Casson, Stephen J Chanock, Patricia Harrington, Isabel Caldas, Irene Debiram-Beecham, Carlos Caldas, Nicholas K Hayward, Paul D Pharoah, Rebecca C Fitzgerald, Stuart MacGregor, David C Whiteman, Thomas L Vaughan

89) Variants at multiple loci implicated in both innate and adaptive immune responses are associated with Sj (Nature Genetics) Sunday October 6th 2013
Christopher J Lessard, He Li, Indra Adrianto, John A Ice, Astrid Rasmussen, Kiely M Grundahl, Jennifer A Kelly, Mikhail G Dozmorov, Corinne Miceli-Richard, Simon Bowman, Sue Lester, Per Eriksson, Maija-Leena Eloranta, Johan G Brun, Lasse G G, Erna Harboe, Joel M Guthridge, Kenneth M Kaufman, Marika Kvarnstr, Helmi Jazebi, Deborah S Cunninghame Graham, Martha E Grandits, Abu N M Nazmul-Hossain, Ketan Patel, Adam J Adler, Jacen S Maier-Moore, A Darise Farris, Michael T Brennan, James A Lessard, James Chodosh, Rajaram Gopalakrishnan, Kimberly S Hefner, Glen D Houston, Andrew J W Huang, Pamela J Hughes, David M Lewis, Lida Radfar, Michael D Rohrer, Donald U Stone, Jonathan D Wren, Timothy J Vyse, Patrick M Gaffney, Judith A James, Roald Omdal, Marie Wahren-Herlenius, Gabor G Illei, Torsten Witte, Roland Jonsson, Maureen Rischmueller, Lars R, Gunnel Nordmark, Wan-Fai Ng, Xavier Mariette, Juan-Manuel Anaya, Nelson L Rhodus, Barbara M Segal, R Hal Scofield, Courtney G Montgomery, John B Harley, Kathy L Sivils

90) Discovery and refinement of loci associated with lipid levels (Nature Genetics) Sunday October 6th 2013


91) A genome-wide association study in Han Chinese identifies a susceptibility locus for primary Sj (Nature Genetics) Sunday October 6th 2013
Yongzhe Li, Kunlin Zhang, Hua Chen, Fei Sun, Juanjuan Xu, Ziyan Wu, Ping Li, Liuyan Zhang, Yang Du, Haixia Luan, Xi Li, Lijun Wu, Hongbin Li, Huaxiang Wu, Xiangpei Li, Xiaomei Li, Xiao Zhang, Lu Gong, Lie Dai, Lingyun Sun, Xiaoxia Zuo, Jianhua Xu, Huiping Gong, Zhijun Li, Shengquan Tong, Min Wu, Xiaofeng Li, Weiguo Xiao, Guochun Wang, Ping Zhu, Min Shen, Shengyun Liu, Dongbao Zhao, Wei Liu, Yi Wang, Cibo Huang, Quan Jiang, Guijian Liu, Bin Liu, Shaoxian Hu, Wen Zhang, Zhuoli Zhang, Xin You, Mengtao Li, Weixin Hao, Cheng Zhao, Xiaomei Leng, Liqi Bi, Yongfu Wang, Fengxiao Zhang, Qun Shi, Wencheng Qi, Xuewu Zhang, Yuan Jia, Jinmei Su, Qin Li, Yong Hou, Qingjun Wu, Dong Xu, Wenjie Zheng, Miaojia Zhang, Qian Wang, Yunyun Fei, Xuan Zhang, Jing Li, Ying Jiang, Xinping Tian, Lidan Zhao, Li Wang, Bin Zhou, Yang Li, Yan Zhao, Xiaofeng Zeng, Jurg Ott, Jing Wang, Fengchun Zhang

92) BMP signaling controls muscle mass (Nature Genetics) Sunday September 29th 2013
Roberta Sartori, Elija Schirwis, Bert Blaauw, Sergia Bortolanza, Jinghui Zhao, Elena Enzo, Amalia Stantzou, Etienne Mouisel, Luana Toniolo, Arnaud Ferry, Sigmar Stricker, Alfred L Goldberg, Sirio Dupont, Stefano Piccolo, Helge Amthor, Marco Sandri

93) Replicative mechanisms for CNV formation are error prone (Nature Genetics) Sunday September 29th 2013
Claudia M B Carvalho, Davut Pehlivan, Melissa B Ramocki, Ping Fang, Benjamin Alleva, Luis M Franco, John W Belmont, P J Hastings, James R Lupski

94) Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis (Nature Genetics) Sunday September 29th 2013


95) Global chromatin profiling reveals NSD2 mutations in pediatric acute lymphoblastic leukemia (Nature Genetics) Sunday September 29th 2013
Jacob D Jaffe, Yan Wang, Ho Man Chan, Jinghui Zhang, Robert Huether, Gregory V Kryukov, Hyo-eun C Bhang, Jordan E Taylor, Min Hu, Nathan P Englund, Feng Yan, Zhaofu Wang, E Robert McDonald, Lei Wei, Jing Ma, John Easton, Zhengtian Yu, Rosalie deBeaumount, Veronica Gibaja, Kavitha Venkatesan, Robert Schlegel, William R Sellers, Nicholas Keen, Jun Liu, Giordano Caponigro, Jordi Barretina, Vesselina G Cooke, Charles Mullighan, Steven A Carr, James R Downing, Levi A Garraway, Frank Stegmeier

96) The long noncoding RNA SChLAP1 promotes aggressive prostate cancer and antagonizes the SWI/SNF complex (Nature Genetics) Sunday September 29th 2013
John R Prensner, Matthew K Iyer, Anirban Sahu, Irfan A Asangani, Qi Cao, Lalit Patel, Ismael A Vergara, Elai Davicioni, Nicholas Erho, Mercedeh Ghadessi, Robert B Jenkins, Timothy J Triche, Rohit Malik, Rachel Bedenis, Natalie McGregor, Teng Ma, Wei Chen, Sumin Han, Xiaojun Jing, Xuhong Cao, Xiaoju Wang, Benjamin Chandler, Wei Yan, Javed Siddiqui, Lakshmi P Kunju, Saravana M Dhanasekaran, Kenneth J Pienta, Felix Y Feng, Arul M Chinnaiyan

97) Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism (Nature Genetics) Sunday September 29th 2013
Christian P Schaaf, Manuel L Gonzalez-Garay, Fan Xia, Lorraine Potocki, Karen W Gripp, Baili Zhang, Brock A Peters, Mark A McElwain, Radoje Drmanac, Arthur L Beaudet, C Thomas Caskey, Yaping Yang

98) Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development (Nature Genetics) Sunday September 22nd 2013
Silvia Cappello, Mary J Gray, Caroline Badouel, Simona Lange, Melanie Einsiedler, Myriam Srour, David Chitayat, Fadi F Hamdan, Zandra A Jenkins, Tim Morgan, Nadia Preitner, Tami Uster, Jackie Thomas, Patrick Shannon, Victoria Morrison, Nataliya Di Donato, Lionel Van Maldergem, Teresa Neuhann, Ruth Newbury-Ecob, Marielle Swinkells, Paulien Terhal, Louise C Wilson, Petra J G Zwijnenburg, Andrew J Sutherland-Smith, Michael A Black, David Markie, Jacques L Michaud, Michael A Simpson, Sahar Mansour, Helen McNeill, Magdalena G, Stephen P Robertson

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