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1) A genetic mechanism for Tibetan high-altitude adaptation (Nature Genetics) Sunday August 17th 2014
Felipe R Lorenzo, Chad Huff, Mikko Myllym, Benjamin Olenchock, Sabina Swierczek, Tsewang Tashi, Victor Gordeuk, Tana Wuren, Ge Ri-Li, Donald A McClain, Tahsin M Khan, Parvaiz A Koul, Prasenjit Guchhait, Mohamed E Salama, Jinchuan Xing, Gregg L Semenza, Ella Liberzon, Andrew Wilson, Tatum S Simonson, Lynn B Jorde, William G Kaelin, Peppi Koivunen, Josef T Prchal

2) Human somatic cell mutagenesis creates genetically tractable sarcomas (Nature Genetics) Sunday August 17th 2014
Sam D Molyneux, Paul D Waterhouse, Dawne Shelton, Yang W Shao, Christopher M Watling, Qing-Lian Tang, Isaac S Harris, Brendan C Dickson, Pirashaanthy Tharmapalan, Geir K Sandve, Xiaoyang Zhang, Swneke D Bailey, Hal Berman, Jay S Wunder, Zsuzsanna Iszvak, Mathieu Lupien, Tak W Mak, Rama Khokha

3) JAGN1 deficiency causes aberrant myeloid cell homeostasis and congenital neutropenia (Nature Genetics) Sunday August 17th 2014
Kaan Boztug, P, Elisabeth Salzer, Tomas Racek, Sebastian M, Wojciech Garncarz, E Michael Gertz, Alejandro A Sch, Aristotelis Antonopoulos, Stuart M Haslam, Lena Schieck, Jacek Pucha, Jana Diestelhorst, Giridharan Appaswamy, Brigitte Lescoeur, Roberto Giambruno, Johannes W Bigenzahn, Ulrich Elling, Dietmar Pfeifer, Cecilia Dom, Michael H Albert, Karl Welte, Gudrun Brandes, Roya Sherkat, Jutte van der Werff ten Bosch, Nima Rezaei, Amos Etzioni, Christine Bellann, Giulio Superti-Furga, Josef M Penninger, Keiryn L Bennett, Julia von Blume, Anne Dell, Jean Donadieu, Christoph Klein

4) Jagunal homolog 1 is a critical regulator of neutrophil function in fungal host defense (Nature Genetics) Sunday August 17th 2014
Gerald Wirnsberger, Florian Zwolanek, Johannes Stadlmann, Luigi Tortola, Shang Wan Liu, Thomas Perlot, P, Gerhard D, Ivona Kozieradzki, Renu Sarao, Alba De Martino, Kaan Boztug, Karl Mechtler, Karl Kuchler, Christoph Klein, Ulrich Elling, Josef M Penninger

5) Joint analysis of three genome-wide association studies of esophageal squamous cell carcinoma in Chinese populations (Nature Genetics) Sunday August 17th 2014
Chen Wu, Zhaoming Wang, Xin Song, Xiao-Shan Feng, Christian C Abnet, Jie He, Nan Hu, Xian-Bo Zuo, Wen Tan, Qimin Zhan, Zhibin Hu, Zhonghu He, Weihua Jia, Yifeng Zhou, Kai Yu, Xiao-Ou Shu, Jian-Min Yuan, Wei Zheng, Xue-Ke Zhao, She-Gan Gao, Zhi-Qing Yuan, Fu-You Zhou, Zong-Min Fan, Ji-Li Cui, Hong-Li Lin, Xue-Na Han, Bei Li, Xi Chen, Sanford M Dawsey, Linda Liao, Maxwell P Lee, Ti Ding, You-Lin Qiao, Zhihua Liu, Yu Liu, Dianke Yu, Jiang Chang, Lixuan Wei, Yu-Tang Gao, Woon-Puay Koh, Yong-Bing Xiang, Ze-Zhong Tang, Jin-Hu Fan, Jing-Jing Han, Sheng-Li Zhou, Peng Zhang, Dong-Yun Zhang, Yuan Yuan, Ying Huang, Chunling Liu, Kan Zhai, Yan Qiao, Guangfu Jin, Chuanhai Guo, Jianhua Fu, Xiaoping Miao, Changdong Lu, Haijun Yang, Chaoyu Wang, William A Wheeler, Mitchell Gail, Meredith Yeager, Jeff Yuenger, Er-Tao Guo, Ai-Li Li, Wei Zhang, Xue-Min Li, Liang-Dan Sun, Bao-Gen Ma, Yan Li, Sa Tang, Xiu-Qing Peng, Jing Liu, Amy Hutchinson, Kevin Jacobs, Carol Giffen, Laurie Burdette, Joseph F Fraumeni, Hongbing Shen, Yang Ke, Yixin Zeng, Tangchun Wu, Peter Kraft, Charles C Chung, Margaret A Tucker, Zhi-Chao Hou, Ya-Li Liu, Yan-Long Hu, Yu Liu, Li Wang, Guo Yuan, Li-Sha Chen, Xiao Liu, Teng Ma, Hui Meng, Li Sun, Xin-Min Li, Xiu-Min Li, Jian-Wei Ku, Ying-Fa Zhou, Liu-Qin Yang, Zhou Wang, Yin Li, Qirenwang Qige, Wen-Jun Yang, Guang-Yan Lei, Long-Qi Chen, En-Min Li, Ling Yuan, Wen-Bin Yue, Ran Wang, Lu-Wen Wang, Xue-Ping Fan, Fang-Heng Zhu, Wei-Xing Zhao, Yi-Min Mao, Mei Zhang, Guo-Lan Xing, Ji-Lin Li, Min Han, Jing-Li Ren, Bin Liu, Shu-Wei Ren, Qing-Peng Kong, Feng Li, Ilyar Sheyhidin, Wu Wei, Yan-Rui Zhang, Chang-Wei Feng, Jin Wang, Yu-Hua Yang, Hong-Zhang Hao, Qi-De Bao, Bao-Chi Liu, Ai-Qun Wu, Dong Xie, Wan-Cai Yang, Liang Wang, Xiao-Hang Zhao, Shu-Qing Chen, Jun-Yan Hong, Xue-Jun Zhang, Neal D Freedman, Alisa M Goldstein, Dongxin Lin, Philip R Taylor, Li-Dong Wang, Stephen J Chanock

6) Genome-wide association analyses identify variants in developmental genes associated with hypospadias (Nature Genetics) Sunday August 10th 2014
Frank Geller, Bjarke Feenstra, Lisbeth Carstensen, Tune H Pers, Iris A L M van Rooij, Izabella Baranowska K, Shweta Choudhry, Juha M Karjalainen, Tine H Schnack, Mads V Hollegaard, Wout F J Feitz, Nel Roeleveld, David M Hougaard, Joel N Hirschhorn, Lude Franke, Laurence S Baskin, Agneta Nordenskj, Loes F M van der Zanden, Mads Melbye

7) A strand-specific switch in noncoding transcription switches the function of a Polycomb/Trithorax response element (Nature Genetics) Sunday August 10th 2014
Veronika A Herzog, Adelheid Lempradl, Johanna Trupke, Helena Okulski, Christina Altmutter, Frank Ruge, Bernd Boidol, Stefan Kubicek, Gerald Schmauss, Karin Aumayr, Marius Ruf, Andrew Pospisilik, Andrew Dimond, Hasene Basak Senergin, Marcus L Vargas, Jeffrey A Simon, Leonie Ringrose

8) Genome-wide association analysis of Vogt-Koyanagi-Harada syndrome identifies two new susceptibility loci at 1p31.2 and 10q21.3 (Nature Genetics) Sunday August 10th 2014
Shengping Hou, Liping Du, Bo Lei, Chi Pui Pang, Meifen Zhang, Wenjuan Zhuang, Minglian Zhang, Lulin Huang, Bo Gong, Meilin Wang, Qi Zhang, Ke Hu, Qingyun Zhou, Jian Qi, Chaokui Wang, Yuan Tian, Zi Ye, Liang Liang, Hongsong Yu, Hong Li, Yan Zhou, Qingfeng Cao, Yunjia Liu, Lin Bai, Dan Liao, Aize Kijlstra, Jianfeng Xu, Zhenglin Yang, Peizeng Yang

9) A common missense variant in NUDT15 confers susceptibility to thiopurine-induced leukopenia (Nature Genetics) Sunday August 10th 2014
Suk-Kyun Yang, Myunghee Hong, Jiwon Baek, Hyunchul Choi, Wanting Zhao, Yusun Jung, Talin Haritunians, Byong Duk Ye, Kyung-Jo Kim, Sang Hyoung Park, Soo-Kyung Park, Dong-Hoon Yang, Marla Dubinsky, Inchul Lee, Dermot P B McGovern, Jianjun Liu, Kyuyoung Song

10) A framework for the interpretation of de novo mutation in human disease (Nature Genetics) Monday August 4th 2014
Kaitlin E Samocha, Elise B Robinson, Stephan J Sanders, Christine Stevens, Aniko Sabo, Lauren M McGrath, Jack A Kosmicki, Karola Rehnstr, Swapan Mallick, Andrew Kirby, Dennis P Wall, Daniel G MacArthur, Stacey B Gabriel, Mark DePristo, Shaun M Purcell, Aarno Palotie, Eric Boerwinkle, Joseph D Buxbaum, Edwin H Cook, Richard A Gibbs, Gerard D Schellenberg, James S Sutcliffe, Bernie Devlin, Kathryn Roeder, Benjamin M Neale, Mark J Daly

11) Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer (Nature Genetics) Monday August 4th 2014
Brian M Wolpin, Cosmeri Rizzato, Peter Kraft, Charles Kooperberg, Gloria M Petersen, Zhaoming Wang, Alan A Arslan, Laura Beane-Freeman, Paige M Bracci, Julie Buring, Federico Canzian, Eric J Duell, Steven Gallinger, Graham G Giles, Gary E Goodman, Phyllis J Goodman, Eric J Jacobs, Aruna Kamineni, Alison P Klein, Laurence N Kolonel, Matthew H Kulke, Donghui Li, N, Sara H Olson, Harvey A Risch, Howard D Sesso, Kala Visvanathan, Emily White, Wei Zheng, Christian C Abnet, Demetrius Albanes, Gabriella Andreotti, Melissa A Austin, Richard Barfield, Daniela Basso, Sonja I Berndt, Marie-Christine Boutron-Ruault, Michelle Brotzman, Markus W B, H Bas Bueno-de-Mesquita, Peter Bugert, Laurie Burdette, Daniele Campa, Neil E Caporaso, Gabriele Capurso, Charles Chung, Michelle Cotterchio, Eithne Costello, Joanne Elena, Niccola Funel, J Michael Gaziano, Nathalia A Giese, Edward L Giovannucci, Michael Goggins, Megan J Gorman, Myron Gross, Christopher A Haiman, Manal Hassan, Kathy J Helzlsouer, Brian E Henderson, Elizabeth A Holly, Nan Hu, David J Hunter, Federico Innocenti, Mazda Jenab, Rudolf Kaaks, Timothy J Key, Kay-Tee Khaw, Eric A Klein, Manolis Kogevinas, Vittorio Krogh, Juozas Kupcinskas, Robert C Kurtz, Andrea LaCroix, Maria T Landi, Stefano Landi, Loic Le Marchand, Andrea Mambrini, Satu Mannisto, Roger L Milne, Yusuke Nakamura, Ann L Oberg, Kouros Owzar, Alpa V Patel, Petra H M Peeters, Ulrike Peters, Raffaele Pezzilli, Ada Piepoli, Miquel Porta, Francisco X Real, Elio Riboli, Nathaniel Rothman, Aldo Scarpa, Xiao-Ou Shu, Debra T Silverman, Pavel Soucek, Malin Sund, Renata Talar-Wojnarowska, Philip R Taylor, George E Theodoropoulos, Mark Thornquist, Anne Tj, Geoffrey S Tobias, Dimitrios Trichopoulos, Pavel Vodicka, Jean Wactawski-Wende, Nicolas Wentzensen, Chen Wu, Herbert Yu, Kai Yu, Anne Zeleniuch-Jacquotte, Robert Hoover, Patricia Hartge, Charles Fuchs, Stephen J Chanock, Rachael S Stolzenberg-Solomon, Laufey T Amundadottir

12) Multi-tiered genomic analysis of head and neck cancer ties TP53 mutation to 3p loss (Nature Genetics) Monday August 4th 2014
Andrew M Gross, Ryan K Orosco, John P Shen, Ann Marie Egloff, Hannah Carter, Matan Hofree, Michel Choueiri, Charles S Coffey, Scott M Lippman, D Neil Hayes, Ezra E Cohen, Jennifer R Grandis, Quyen T Nguyen, Trey Ideker

13) The genome sequence of African rice (Oryza glaberrima) and evidence for independent domestication (Nature Genetics) Sunday July 27th 2014
Muhua Wang, Yeisoo Yu, Georg Haberer, Pradeep Reddy Marri, Chuanzhu Fan, Jose Luis Goicoechea, Andrea Zuccolo, Xiang Song, Dave Kudrna, Jetty S S Ammiraju, Rosa Maria Cossu, Carlos Maldonado, Jinfeng Chen, Seunghee Lee, Nick Sisneros, Kristi de Baynast, Wolfgang Golser, Marina Wissotski, Woojin Kim, Paul Sanchez, Marie-Noelle Ndjiondjop, Kayode Sanni, Manyuan Long, Judith Carney, Olivier Panaud, Thomas Wicker, Carlos A Machado, Mingsheng Chen, Klaus F X Mayer, Steve Rounsley, Rod A Wing

14) The genome of the stress-tolerant wild tomato species Solanum pennellii (Nature Genetics) Sunday July 27th 2014
Anthony Bolger, Federico Scossa, Marie E Bolger, Christa Lanz, Florian Maumus, Takayuki Tohge, Hadi Quesneville, Saleh Alseekh, Iben S, Gabriel Lichtenstein, Eric A Fich, Mariana Conte, Heike Keller, Korbinian Schneeberger, Rainer Schwacke, Itai Ofner, Julia Vrebalov, Yimin Xu, Sonia Osorio, Saulo Alves Aflitos, Elio Schijlen, Jos, Malgorzata Ryngajllo, Seisuke Kimura, Ravi Kumar, Daniel Koenig, Lauren R Headland, Julin N Maloof, Neelima Sinha, Roeland C H J van Ham, Ren, Linyong Mao, Alexander Vogel, Borjana Arsova, Ralph Panstruga, Zhangjun Fei, Jocelyn K C Rose, Dani Zamir, Fernando Carrari, James J Giovannoni, Detlef Weigel, Bj, Alisdair R Fernie

15) A genome-wide association study identifies susceptibility loci for ossification of the posterior longitudinal ligament of the spine (Nature Genetics) Sunday July 27th 2014
Masahiro Nakajima, Atsushi Takahashi, Takashi Tsuji, Tatsuki Karasugi, Hisatoshi Baba, Kenzo Uchida, Shigenori Kawabata, Atsushi Okawa, Shigeo Shindo, Kazuhiro Takeuchi, Yuki Taniguchi, Shingo Maeda, Masafumi Kashii, Atsushi Seichi, Hideaki Nakajima, Yoshiharu Kawaguchi, Shunsuke Fujibayashi, Masahiko Takahata, Toshihiro Tanaka, Kei Watanabe, Kazunobu Kida, Tsukasa Kanchiku, Zenya Ito, Kanji Mori, Takashi Kaito, Sho Kobayashi, Kei Yamada, Masahito Takahashi, Kazuhiro Chiba, Morio Matsumoto, Ken-Ichi Furukawa, Michiaki Kubo, Yoshiaki Toyama, Shiro Ikegawa

16) Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease (Nature Genetics) Sunday July 27th 2014
Mike A Nalls, Nathan Pankratz, Christina M Lill, Chuong B Do, Dena G Hernandez, Mohamad Saad, Anita L DeStefano, Eleanna Kara, Jose Bras, Manu Sharma, Claudia Schulte, Margaux F Keller, Sampath Arepalli, Christopher Letson, Connor Edsall, Hreinn Stefansson, Xinmin Liu, Hannah Pliner, Joseph H Lee, Rong Cheng, M Arfan Ikram, John P A Ioannidis, Georgios M Hadjigeorgiou, Joshua C Bis, Maria Martinez, Joel S Perlmutter, Alison Goate, Karen Marder, Brian Fiske, Margaret Sutherland, Georgia Xiromerisiou, Richard H Myers, Lorraine N Clark, Kari Stefansson, John A Hardy, Peter Heutink, Honglei Chen, Nicholas W Wood, Henry Houlden, Haydeh Payami, Alexis Brice, William K Scott, Thomas Gasser, Lars Bertram, Nicholas Eriksson, Tatiana Foroud, Andrew B Singleton

17) Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease (Nature Genetics) Sunday July 20th 2014
Sarah E Flanagan, Emma Haapaniemi, Mark A Russell, Richard Caswell, Hana Lango Allen, Elisa De Franco, Timothy J McDonald, Hanna Rajala, Anita Ramelius, John Barton, Kaarina Heiskanen, Tarja Heiskanen-Kosma, Merja Kajosaari, Nuala P Murphy, Tatjana Milenkovic, Mikko Sepp, Åke Lernmark, Satu Mustjoki, Timo Otonkoski, Juha Kere, Noel G Morgan, Sian Ellard, Andrew T Hattersley

18) The common marmoset genome provides insight into primate biology and evolution (Nature Genetics) Sunday July 20th 2014


19) Genome-wide association analysis in East Asians identifies breast cancer susceptibility loci at 1q32.1, 5q14.3 and 15q26.1 (Nature Genetics) Sunday July 20th 2014
Qiuyin Cai, Ben Zhang, Hyuna Sung, Siew-Kee Low, Sun-Seog Kweon, Wei Lu, Jiajun Shi, Jirong Long, Wanqing Wen, Ji-Yeob Choi, Dong-Young Noh, Chen-Yang Shen, Keitaro Matsuo, Soo-Hwang Teo, Mi Kyung Kim, Ui Soon Khoo, Motoki Iwasaki, Mikael Hartman, Atsushi Takahashi, Kyota Ashikawa, Koichi Matsuda, Min-Ho Shin, Min Ho Park, Ying Zheng, Yong-Bing Xiang, Bu-Tian Ji, Sue K Park, Pei-Ei Wu, Chia-Ni Hsiung, Hidemi Ito, Yoshio Kasuga, Peter Kang, Shivaani Mariapun, Sei Hyun Ahn, Han Sung Kang, Kelvin Y K Chan, Ellen P S Man, Hiroji Iwata, Shoichiro Tsugane, Hui Miao, Jiemin Liao, Yusuke Nakamura, Michiaki Kubo, Ryan J Delahanty, Yanfeng Zhang, Bingshan Li, Chun Li, Yu-Tang Gao, Xiao-Ou Shu, Daehee Kang, Wei Zheng

20) Most genetic risk for autism resides with common variation (Nature Genetics) Sunday July 20th 2014
Trent Gaugler, Lambertus Klei, Stephan J Sanders, Corneliu A Bodea, Arthur P Goldberg, Ann B Lee, Milind Mahajan, Dina Manaa, Yudi Pawitan, Jennifer Reichert, Stephan Ripke, Sven Sandin, Pamela Sklar, Oscar Svantesson, Abraham Reichenberg, Christina M Hultman, Bernie Devlin, Kathryn Roeder, Joseph D Buxbaum

21) Exome sequencing identifies highly recurrent MED12 somatic mutations in breast fibroadenoma (Nature Genetics) Sunday July 20th 2014
Weng Khong Lim, Choon Kiat Ong, Jing Tan, Aye Aye Thike, Cedric Chuan Young Ng, Vikneswari Rajasegaran, Swe Swe Myint, Sanjanaa Nagarajan, Nur Diyana Md Nasir, John R McPherson, Ioana Cutcutache, Gregory Poore, Su Ting Tay, Wei Siong Ooi, Veronique Kiak Mien Tan, Mikael Hartman, Kong Wee Ong, Benita K T Tan, Steven G Rozen, Puay Hoon Tan, Patrick Tan, Bin Tean Teh

22) Mutations in ZBTB20 cause Primrose syndrome (Nature Genetics) Sunday July 13th 2014
Viviana Cordeddu, Bert Redeker, Emilia Stellacci, Aldo Jongejan, Alessandra Fragale, Ted E J Bradley, Massimiliano Anselmi, Andrea Ciolfi, Serena Cecchetti, Valentina Muto, Laura Bernardini, Meron Azage, Daniel R Carvalho, Alberto J Espay, Alison Male, Anna-Maja Molin, Renata Posmyk, Carla Battisti, Alberto Casertano, Daniela Melis, Antoine van Kampen, Frank Baas, Marcel M Mannnens, Gianfranco Bocchinfuso, Lorenzo Stella, Marco Tartaglia, Raoul C Hennekam

23) Whole-genome sequencing of 234 bulls facilitates mapping of monogenic and complex traits in cattle (Nature Genetics) Sunday July 13th 2014
Hans D Daetwyler, Aur, Hubert Pausch, Paul Stothard, Rianne van Binsbergen, Rasmus F Br, Xiaoping Liao, Anis Djari, Sabrina C Rodriguez, C, Diane Esquerr, Olivier Bouchez, Marie-No, Christophe Klopp, Dominique Rocha, S, Andr, Phil J Bowman, David Coote, Amanda J Chamberlain, Charlotte Anderson, Curt P VanTassell, Ina Hulsegge, Mike E Goddard, Bernt Guldbrandtsen, Mogens S Lund, Roel F Veerkamp, Didier A Boichard, Ruedi Fries, Ben J Hayes

24) Genome-wide association analysis of eosinophilic esophagitis provides insight into the tissue specificity of this allergic disease (Nature Genetics) Sunday July 13th 2014
Leah C Kottyan, Benjamin P Davis, Joseph D Sherrill, Kan Liu, Mark Rochman, Kenneth Kaufman, Matthew T Weirauch, Samuel Vaughn, Sara Lazaro, Andrew M Rupert, Mojtaba Kohram, Emily M Stucke, Katherine A Kemme, Albert Magnusen, Hua He, Phillip Dexheimer, Mirna Chehade, Robert A Wood, Robbie D Pesek, Brian P Vickery, David M Fleischer, Robert Lindbad, Hugh A Sampson, Vincent A Mukkada, Phil E Putnam, J Pablo Abonia, Lisa J Martin, John B Harley, Marc E Rothenberg

25) Integrating mapping-, assembly- and haplotype-based approaches for calling variants in clinical sequencing applications (Nature Genetics) Sunday July 13th 2014
Andy Rimmer, Hang Phan, Iain Mathieson, Zamin Iqbal, Stephen R F Twigg, Andrew O M Wilkie, Gil McVean, Gerton Lunter

26) Common variants in the HLA-DQ region confer susceptibility to idiopathic achalasia (Nature Genetics) Sunday July 6th 2014
Ines Gockel, Jessica Becker, Mira M Wouters, Stefan Niebisch, Henning R Gockel, Timo Hess, David Ramonet, Julian Zimmermann, Ana Gonz, Gosia Trynka, Antonio Ruiz de Le, Julio P, Elena Urcelay, Vinod Kumar, Lude Franke, Harm-Jan Westra, Daniel Drescher, Werner Kneist, Jens U Marquardt, Peter R Galle, Manuel Mattheisen, Vito Annese, Anna Latiano, Uberto Fumagalli, Luigi Laghi, Rosario Cuomo, Giovanni Sarnelli, Michaela M, Alexander J Eckardt, Jan Tack, Per Hoffmann, Stefan Herms, Elisabeth Mangold, Stefanie Heilmann, Ralf Kiesslich, Burkhard H A von Rahden, Hans-Dieter Allescher, Henning G Schulz, Cisca Wijmenga, Michael T Heneka, Hauke Lang, Karl-Peter Hopfner, Markus M N, Guy E Boeckxstaens, Paul I W de Bakker, Michael Knapp, Johannes Schumacher

27) Whole-exome and targeted gene sequencing of gallbladder carcinoma identifies recurrent mutations in the ErbB pathway (Nature Genetics) Sunday July 6th 2014
Maolan Li, Zhou Zhang, Xiaoguang Li, Junyi Ye, Xiangsong Wu, Zhujun Tan, Chang Liu, Baiyong Shen, Xu-An Wang, Wenguang Wu, Daizhan Zhou, Di Zhang, Ting Wang, Bingya Liu, Kai Qu, Qichen Ding, Hao Weng, Qian Ding, Jiasheng Mu, Yijun Shu, Runfa Bao, Yang Cao, Peizhan Chen, Tianyu Liu, Lin Jiang, Yunping Hu, Ping Dong, Jun Gu, Wei Lu, Weibin Shi, Jianhua Lu, Wei Gong, Zhaohui Tang, Yong Zhang, Xuefeng Wang, Y Eugene Chin, Xiaoling Weng, Hong Zhang, Wei Tang, Yonglan Zheng, Lin He, Hui Wang, Yun Liu, Yingbin Liu

28) The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation (Nature Genetics) Sunday July 6th 2014
Christel Thauvin-Robinet, Jaclyn S Lee, Estelle Lopez, Vicente Herranz-P, Toshinobu Shida, Brunella Franco, Laurence Jego, Fan Ye, Laurent Pasquier, Philippe Loget, Nad, Bernard Aral, Carla A M Lopes, Judith St-Onge, Ange-Line Bruel, Julien Thevenon, Susana Gonz, Caroline Alby, Arnold Munnich, Michel Vekemans, Fr, Andrew M Fry, Sophie Saunier, Jean-Baptiste Rivi, Tania Atti, Jose Manuel Garcia-Verdugo, Laurence Faivre, Andr, Maxence V Nachury

29) Whole-genome sequence variation, population structure and demographic history of the Dutch population (Nature Genetics) Sunday June 29th 2014


30) A specific missense mutation in GTF2I occurs at high frequency in thymic epithelial tumors (Nature Genetics) Sunday June 29th 2014
Iacopo Petrini, Paul S Meltzer, In-Kyu Kim, Marco Lucchi, Kang-Seo Park, Gabriella Fontanini, James Gao, Paolo A Zucali, Fiorella Calabrese, Adolfo Favaretto, Federico Rea, Jaime Rodriguez-Canales, Robert L Walker, Marbin Pineda, Yuelin J Zhu, Christopher Lau, Keith J Killian, Sven Bilke, Donna Voeller, Sivanesan Dakshanamurthy, Yisong Wang, Giuseppe Giaccone

31) A three-stage genome-wide association study identifies a susceptibility locus for late radiotherapy toxicity at 2q24.1 (Nature Genetics) Sunday June 29th 2014
Laura Fachal, Antonio G, Gillian C Barnett, Paula Peleteiro, Ana M Carballo, Patricia Calvo-Crespo, Sarah L Kerns, Manuel S, Ram, Leila Dorling, Rebecca M Elliott, David P Dearnaley, Matthew R Sydes, Emma Hall, Neil G Burnet, Ángel Carracedo, Barry S Rosenstein, Catharine M L West, Alison M Dunning, Ana Vega

32) The genomic landscape of nasopharyngeal carcinoma (Nature Genetics) Sunday June 22nd 2014
De-Chen Lin, Xuan Meng, Masaharu Hazawa, Yasunobu Nagata, Ana Maria Varela, Liang Xu, Yusuke Sato, Li-Zhen Liu, Ling-Wen Ding, Arjun Sharma, Boon Cher Goh, Soo Chin Lee, Bengt Fredrik Petersson, Feng Gang Yu, Paul Macary, Min Zin Oo, Chan Soh Ha, Henry Yang, Seishi Ogawa, Kwok Seng Loh, H Phillip Koeffler

33) Inferring human population size and separation history from multiple genome sequences (Nature Genetics) Sunday June 22nd 2014
Stephan Schiffels, Richard Durbin

34) Whipworm genome and dual-species transcriptome analyses provide molecular insights into an intimate host-parasite interaction (Nature Genetics) Sunday June 15th 2014
Bernardo J Foth, Isheng J Tsai, Adam J Reid, Allison J Bancroft, Sarah Nichol, Alan Tracey, Nancy Holroyd, James A Cotton, Eleanor J Stanley, Magdalena Zarowiecki, Jimmy Z Liu, Thomas Huckvale, Philip J Cooper, Richard K Grencis, Matthew Berriman

35) Genome and transcriptome of the porcine whipworm Trichuris suis (Nature Genetics) Sunday June 15th 2014
Aaron R Jex, Peter Nejsum, Erich M Schwarz, Li Hu, Neil D Young, Ross S Hall, Pasi K Korhonen, Shengguang Liao, Stig Thamsborg, Jinquan Xia, Pengwei Xu, Shaowei Wang, Jean-Pierre Y Scheerlinck, Andreas Hofmann, Paul W Sternberg, Jun Wang, Robin B Gasser

36) A reference genome for common bean and genome-wide analysis of dual domestications (Nature Genetics) Sunday June 15th 2014
Jeremy Schmutz, Phillip E McClean, Sujan Mamidi, G Albert Wu, Steven B Cannon, Jane Grimwood, Jerry Jenkins, Shengqiang Shu, Qijian Song, Carolina Chavarro, Mirayda Torres-Torres, Valerie Geffroy, Samira Mafi Moghaddam, Dongying Gao, Brian Abernathy, Kerrie Barry, Matthew Blair, Mark A Brick, Mansi Chovatia, Paul Gepts, David M Goodstein, Michael Gonzales, Uffe Hellsten, David L Hyten, Gaofeng Jia, James D Kelly, Dave Kudrna, Rian Lee, Manon M S Richard, Phillip N Miklas, Juan M Osorno, Josiane Rodrigues, Vincent Thareau, Carlos A Urrea, Mei Wang, Yeisoo Yu, Ming Zhang, Rod A Wing, Perry B Cregan, Daniel S Rokhsar, Scott A Jackson

37) Quantitative genome-wide enhancer activity maps for five Drosophila species show functional enhancer conservation and turnover during cis-regulatory evolution (Nature Genetics) Sunday June 8th 2014
Cosmas D Arnold, Daniel Gerlach, Daniel Spies, Jessica A Matts, Yuliya A Sytnikova, Michaela Pagani, Nelson C Lau, Alexander Stark

38) Genome-wide association analyses provide genetic and biochemical insights into natural variation in rice metabolism (Nature Genetics) Sunday June 8th 2014
Wei Chen, Yanqiang Gao, Weibo Xie, Liang Gong, Kai Lu, Wensheng Wang, Yang Li, Xianqing Liu, Hongyan Zhang, Huaxia Dong, Wan Zhang, Lejing Zhang, Sibin Yu, Gongwei Wang, Xingming Lian, Jie Luo

39) Identification of erythroferrone as an erythroid regulator of iron metabolism (Nature Genetics) Sunday June 1st 2014
L, Grace Jung, Erika V Valore, Stefano Rivella, Elizabeta Nemeth, Tomas Ganz

40) A molecular basis for classic blond hair color in Europeans (Nature Genetics) Sunday June 1st 2014
Catherine A Guenther, Bosiljka Tasic, Liqun Luo, Mary A Bedell, David M Kingsley

41) Rare variants of large effect in BRCA2 and CHEK2 affect risk of lung cancer (Nature Genetics) Sunday June 1st 2014
Yufei Wang, James D McKay, Thorunn Rafnar, Zhaoming Wang, Maria N Timofeeva, Peter Broderick, Xuchen Zong, Marina Laplana, Yongyue Wei, Younghun Han, Amy Lloyd, Manon Delahaye-Sourdeix, Daniel Chubb, Valerie Gaborieau, William Wheeler, Nilanjan Chatterjee, Gudmar Thorleifsson, Patrick Sulem, Geoffrey Liu, Rudolf Kaaks, Marc Henrion, Ben Kinnersley, Maxime Vall, Florence LeCalvez-Kelm, Victoria L Stevens, Susan M Gapstur, Wei V Chen, David Zaridze, Neonilia Szeszenia-Dabrowska, Jolanta Lissowska, Peter Rudnai, Eleonora Fabianova, Dana Mates, Vladimir Bencko, Lenka Foretova, Vladimir Janout, Hans E Krokan, Maiken Elvestad Gabrielsen, Frank Skorpen, Lars Vatten, Inger Nj, Chu Chen, Gary Goodman, Simone Benhamou, Tonu Vooder, Kristjan V, Mari Nelis, Andres Metspalu, Marcin Lener, Jan Lubi, Mattias Johansson, Paolo Vineis, Antonio Agudo, Francoise Clavel-Chapelon, HBas Bueno-de-Mesquita, Dimitrios Trichopoulos, Kay-Tee Khaw, Mikael Johansson, Elisabete Weiderpass, Anne Tj, Elio Riboli, Mark Lathrop, Ghislaine Scelo, Demetrius Albanes, Neil E Caporaso, Yuanqing Ye, Jian Gu, Xifeng Wu, Margaret R Spitz, Hendrik Dienemann, Albert Rosenberger, Li Su, Athena Matakidou, Timothy Eisen, Kari Stefansson, Angela Risch, Stephen J Chanock, David C Christiani, Rayjean J Hung, Paul Brennan, Maria Teresa Landi, Richard S Houlston, Christopher I Amos

42) Exome sequencing identifies somatic gain-of-function PPM1D mutations in brainstem gliomas (Nature Genetics) Sunday June 1st 2014
Liwei Zhang, Lee H Chen, Hong Wan, Rui Yang, Zhaohui Wang, Jie Feng, Shaohua Yang, Si, Sizhen Wang, Weixin Zhou, Huishan Zhu, Patrick J Killela, Junting Zhang, Zhen Wu, Guilin Li, Shuyu Hao, Yu Wang, Joseph B Webb, Henry S Friedman, Allan H Friedman, Roger E McLendon, Yiping He, Zachary J Reitman, Darell D Bigner, Hai Yan

43) Recurrent PAX3-MAML3 fusion in biphenotypic sinonasal sarcoma (Nature Genetics) Sunday May 25th 2014
Xiaoke Wang, Krista L Bledsoe, Rondell P Graham, Yan W Asmann, David S Viswanatha, Jean E Lewis, Jason T Lewis, Margaret M Chou, Michael J Yaszemski, Jin Jen, Jennifer J Westendorf, Andr

44) Identification of recurrent SMO and BRAF mutations in ameloblastomas (Nature Genetics) Sunday May 25th 2014
Robert T Sweeney, Andrew C McClary, Benjamin R Myers, Jewison Biscocho, Lila Neahring, Kevin A Kwei, Kunbin Qu, Xue Gong, Tony Ng, Carol D Jones, Sushama Varma, Justin I Odegaard, Toshihiro Sugiyama, Souichi Koyota, Brian P Rubin, Megan L Troxell, Robert J Pelham, James L Zehnder, Philip A Beachy, Jonathan R Pollack, Robert B West

45) Brain-expressed exons under purifying selection are enriched for de novo mutations in autism spectrum disorder (Nature Genetics) Sunday May 25th 2014
Mohammed Uddin, Kristiina Tammimies, Giovanna Pellecchia, Babak Alipanahi, Pingzhao Hu, Zhuozhi Wang, Dalila Pinto, Lynette Lau, Thomas Nalpathamkalam, Christian R Marshall, Benjamin J Blencowe, Brendan J Frey, Daniele Merico, Ryan K C Yuen, Stephen W Scherer

46) Long-range enhancers regulating Myc expression are required for normal facial morphogenesis (Nature Genetics) Sunday May 25th 2014
Veli Vural Uslu, Massimo Petretich, Sandra Ruf, Katja Langenfeld, Nuno A Fonseca, John C Marioni, Fran

47) Genome sequence of the cultivated cotton Gossypium arboreum (Nature Genetics) Sunday May 18th 2014
Fuguang Li, Guangyi Fan, Kunbo Wang, Fengming Sun, Youlu Yuan, Guoli Song, Qin Li, Zhiying Ma, Cairui Lu, Changsong Zou, Wenbin Chen, Xinming Liang, Haihong Shang, Weiqing Liu, Chengcheng Shi, Guanghui Xiao, Caiyun Gou, Wuwei Ye, Xun Xu, Xueyan Zhang, Hengling Wei, Zhifang Li, Guiyin Zhang, Junyi Wang, Kun Liu, Russell J Kohel, Richard G Percy, John Z Yu, Yu-Xian Zhu, Jun Wang, Shuxun Yu

48) Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk (Nature Genetics) Sunday May 18th 2014
Ben Zhang, Wei-Hua Jia, Koichi Matsuda, Sun-Seog Kweon, Keitaro Matsuo, Yong-Bing Xiang, Aesun Shin, Sun Ha Jee, Dong-Hyun Kim, Qiuyin Cai, Jirong Long, Jiajun Shi, Wanqing Wen, Gong Yang, Yanfeng Zhang, Chun Li, Bingshan Li, Yan Guo, Zefang Ren, Bu-Tian Ji, Zhi-Zhong Pan, Atsushi Takahashi, Min-Ho Shin, Fumihiko Matsuda, Yu-Tang Gao, Jae Hwan Oh, Soriul Kim, Yoon-Ok Ahn, Andrew T Chan, Jenny Chang-Claude, Martha L Slattery, Stephen B Gruber, Fredrick R Schumacher, Stephanie L Stenzel, Graham Casey, Hyeong-Rok Kim, Jin-Young Jeong, Ji Won Park, Hong-Lan Li, Satoyo Hosono, Sang-Hee Cho, Michiaki Kubo, Xiao-Ou Shu, Yi-Xin Zeng, Wei Zheng

49) An atlas of genetic influences on human blood metabolites (Nature Genetics) Monday May 12th 2014
So-Youn Shin, Eric B Fauman, Ann-Kristin Petersen, Jan Krumsiek, Rita Santos, Jie Huang, Matthias Arnold, Idil Erte, Vincenzo Forgetta, Tsun-Po Yang, Klaudia Walter, Cristina Menni, Lu Chen, Louella Vasquez, Ana M Valdes, Craig L Hyde, Vicky Wang, Daniel Ziemek, Phoebe Roberts, Li Xi, Elin Grundberg, Melanie Waldenberger, J Brent Richards, Robert P Mohney, Michael V Milburn, Sally L John, Jeff Trimmer, Fabian J Theis, John P Overington, Karsten Suhre, M Julia Brosnan, Christian Gieger, Gabi Kastenm, Tim D Spector, Nicole Soranzo

50) The noncoding RNA IPW regulates the imprinted DLK1-DIO3 locus in an induced pluripotent stem cell model of Prader-Willi syndrome (Nature Genetics) Monday May 12th 2014
Yonatan Stelzer, Ido Sagi, Ofra Yanuka, Rachel Eiges, Nissim Benvenisty

51) Whole-genome sequencing and comprehensive molecular profiling identify new driver mutations in gastric cancer (Nature Genetics) Monday May 12th 2014
Kai Wang, Siu Tsan Yuen, Jiangchun Xu, Siu Po Lee, Helen H N Yan, Stephanie T Shi, Hoi Cheong Siu, Shibing Deng, Kent Man Chu, Simon Law, Kok Hoe Chan, Annie S Y Chan, Wai Yin Tsui, Siu Lun Ho, Anthony K W Chan, Jonathan L K Man, Valentina Foglizzo, Man Kin Ng, April S Chan, Yick Pang Ching, Grace H W Cheng, Tao Xie, Julio Fernandez, Vivian S W Li, Hans Clevers, Paul A Rejto, Mao Mao, Suet Yi Leung

52) Recurrent gain-of-function mutations of RHOA in diffuse-type gastric carcinoma (Nature Genetics) Monday May 12th 2014
Miwako Kakiuchi, Takashi Nishizawa, Hiroki Ueda, Kengo Gotoh, Atsushi Tanaka, Akimasa Hayashi, Shogo Yamamoto, Kenji Tatsuno, Hiroto Katoh, Yoshiaki Watanabe, Takashi Ichimura, Tetsuo Ushiku, Shinichi Funahashi, Keisuke Tateishi, Ikuo Wada, Nobuyuki Shimizu, Sachiyo Nomura, Kazuhiko Koike, Yasuyuki Seto, Masashi Fukayama, Hiroyuki Aburatani, Shumpei Ishikawa

53) Pan-cancer genetic analysis identifies PARK2 as a master regulator of G1/S cyclins (Nature Genetics) Sunday May 4th 2014
Yongxing Gong, Travis Ian Zack, Luc G T Morris, Kan Lin, Ellen Hukkelhoven, Radhika Raheja, I-Li Tan, Sevin Turcan, Selvaraju Veeriah, Shasha Meng, Agnes Viale, Steven E Schumacher, Perry Palmedo, Rameen Beroukhim, Timothy A Chan

54) A recurrent neomorphic mutation in MYOD1 defines a clinically aggressive subset of embryonal rhabdomyosarcoma associated with PI3K-AKT pathway mutations (Nature Genetics) Sunday May 4th 2014
Shinji Kohsaka, Neerav Shukla, Nabahet Ameur, Tatsuo Ito, Charlotte K Y Ng, Lu Wang, Diana Lim, Angela Marchetti, Agnes Viale, Mono Pirun, Nicholas D Socci, Li-Xuan Qin, Raf Sciot, Julia Bridge, Samuel Singer, Paul Meyers, Leonard H Wexler, Frederic G Barr, Snjezana Dogan, Jonathan A Fletcher, Jorge S Reis-Filho, Marc Ladanyi

55) Dystrophin is a tumor suppressor in human cancers with myogenic programs (Nature Genetics) Sunday May 4th 2014
Yuexiang Wang, Adrian Marino-Enriquez, Richard R Bennett, Meijun Zhu, Yiping Shen, Grant Eilers, Jen-Chieh Lee, Joern Henze, Benjamin S Fletcher, Zhizhan Gu, Edward A Fox, Cristina R Antonescu, Christopher D M Fletcher, Xiangqian Guo, Chandrajit P Raut, George D Demetri, Matt van de Rijn, Tamas Ordog, Louis M Kunkel, Jonathan A Fletcher

56) Deep transcriptome profiling of mammalian stem cells supports a regulatory role for retrotransposons in pluripotency maintenance (Nature Genetics) Monday April 28th 2014
Alexandre Fort, Kosuke Hashimoto, Daisuke Yamada, Md Salimullah, Chaman A Keya, Alka Saxena, Alessandro Bonetti, Irina Voineagu, Nicolas Bertin, Anton Kratz, Yukihiko Noro, Chee-Hong Wong, Michiel de Hoon, Robin Andersson, Albin Sandelin, Harukazu Suzuki, Chia-Lin Wei, Haruhiko Koseki, Yuki Hasegawa, Alistair R R Forrest, Piero Carninci

57) RAF1 mutations in childhood-onset dilated cardiomyopathy (Nature Genetics) Monday April 28th 2014
Perundurai S Dhandapany, Md Abdur Razzaque, Uthiralingam Muthusami, Sreejith Kunnoth, Jonathan J Edwards, Sonia Mulero-Navarro, Ilan Riess, Sherly Pardo, Jipo Sheng, Deepa Selvi Rani, Bindu Rani, Periyasamy Govindaraj, Elisabetta Flex, Tomohiro Yokota, Michiko Furutani, Tsutomu Nishizawa, Toshio Nakanishi, Jeffrey Robbins, Giuseppe Limongelli, Roger J Hajjar, Djamel Lebeche, Ajay Bahl, Madhu Khullar, Andiappan Rathinavel, Kirsten C Sadler, Marco Tartaglia, Rumiko Matsuoka, Kumarasamy Thangaraj, Bruce D Gelb

58) Mosaic loss of chromosome Y in peripheral blood is associated with shorter survival and higher risk of cancer (Nature Genetics) Monday April 28th 2014
Lars A Forsberg, Chiara Rasi, Niklas Malmqvist, Hanna Davies, Saichand Pasupulati, Geeta Pakalapati, Johanna Sandgren, Teresita Diaz de St, Ammar Zaghlool, Vilmantas Giedraitis, Lars Lannfelt, Joannah Score, Nicholas C P Cross, Devin Absher, Eva Tiensuu Janson, Cecilia M Lindgren, Andrew P Morris, Erik Ingelsson, Lars Lind, Jan P Dumanski

59) Heterotrimeric G proteins regulate nitrogen-use efficiency in rice (Nature Genetics) Monday April 28th 2014
Hongying Sun, Qian Qian, Kun Wu, Jijing Luo, Shuansuo Wang, Chengwei Zhang, Yanfei Ma, Qian Liu, Xianzhong Huang, Qingbo Yuan, Ruixi Han, Meng Zhao, Guojun Dong, Longbiao Guo, Xudong Zhu, Zhiheng Gou, Wen Wang, Yuejin Wu, Hongxuan Lin, Xiangdong Fu

60) 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

61) 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

62) 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

63) 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

64) 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

65) 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

66) 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

67) 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

68) 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

69) 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

70) 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

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


72) 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

73) 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

74) 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

75) 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

76) 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

77) 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

78) 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

79) 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

80) 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

81) 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

82) 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

83) 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

84) 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

85) 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

86) 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

87) 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

88) 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

89) 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

90) 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

91) 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

92) 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

93) 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

94) 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

95) 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

96) 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

97) 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

98) 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

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