Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes.

Am J Hum Genet     Lindsay C Burrage , John J Reynolds , Nissan Vida Baratang , Jennifer B Phillips , Jeremy Wegner , Ashley McFarquhar , Martin R Higgs , Audrey E Christiansen , Denise G Lanza , John R Seavitt , Mahim Jain , Xiaohui Li , David A Parry , Vandana Raman , David Chitayat , Ivan K Chinn , Alison A Bertuch , Lefkothea Karaviti , Alan E Schlesinger , Dawn Earl , Michael Bamshad , Ravi Savarirayan , Harsha Doddapaneni , Donna Muzny , Shalini N Jhangiani , Christine M Eng , Richard A Gibbs , Weimin Bi , Lisa Emrick , Jill A Rosenfeld , John Postlethwait , Monte Westerfield , Mary E Dickinson , Arthur L Beaudet , Emmanuelle Ranza , Celine Huber , Valérie Cormier-Daire , Wei Shen , Rong Mao , Jason D Heaney , Jordan S Orange , University of Washington Center for Mendelian Genomics , Undiagnosed Diseases Network , Débora Bertola , Guilherme L Yamamoto , Wagner A R Baratela , Merlin G Butler , Asim Ali , Mehdi Adeli , Daniel H Cohn , Deborah Krakow , Andrew P Jackson , Melissa Lees , Amaka C Offiah , Colleen M Carlston , John C Carey , Grant S Stewart , Carlos A Bacino , Philippe M Campeau , Brendan Lee

Hypomorphic Mutations in TONSL Cause SPONASTRIME Dysplasia.

Am. J. Hum. Genet.     Hae Ryung Chang , Sung Yoon Cho , Jae Hoon Lee , Eunkyung Lee , Jieun Seo , Hye Ran Lee , Denise P Cavalcanti , Outi Mäkitie , Helena Valta , Katta M Girisha , Chung Lee , Kausthubham Neethukrishna , Gandham S Bhavani , Anju Shukla , Sheela Nampoothiri , Shubha R Phadke , Mi Jung Park , Shiro Ikegawa , Zheng Wang , Martin R Higgs , Grant S Stewart , Eunyoung Jung , Myeong-Sok Lee , Jong Hoon Park , Eun A Lee , Hongtae Kim , Kyungjae Myung , Woosung Jeon , Kyoungyeul Lee , Dongsup Kim , Ok-Hwa Kim , Murim Choi , Han-Woong Lee , Yonghwan Kim , Tae-Joon Cho

A high-resolution anatomical atlas of the transcriptome in the mouse embryo.

PLoS Biol.     Graciana Diez-Roux , Sandro Banfi , Marc Sultan , Lars Geffers , Santosh Anand , David Rozado , Alon Magen , Elena Canidio , Massimiliano Pagani , Ivana Peluso , Nathalie Lin-Marq , Muriel Koch , Marchesa Bilio , Immacolata Cantiello , Roberta Verde , Cristian De Masi , Salvatore A Bianchi , Juliette Cicchini , Elodie Perroud , Shprese Mehmeti , Emilie Dagand , Sabine Schrinner , Asja Nürnberger , Katja Schmidt , Katja Metz , Christina Zwingmann , Norbert Brieske , Cindy Springer , Ana Martinez Hernandez , Sarah Herzog , Frauke Grabbe , Cornelia Sieverding , Barbara Fischer , Kathrin Schrader , Maren Brockmeyer , Sarah Dettmer , Christin Helbig , Violaine Alunni , Marie-Annick Battaini , Carole Mura , Charlotte N Henrichsen , Raquel Garcia-Lopez , Diego Echevarria , Eduardo Puelles , Elena Garcia-Calero , Stefan Kruse , Markus Uhr , Christine Kauck , Guangjie Feng , Nestor Milyaev , Chuang Kee Ong , Lalit Kumar , MeiSze Lam , Colin A Semple , Attila Gyenesei , Stefan Mundlos , Uwe Radelof , Hans Lehrach , Paolo Sarmientos , Alexandre Reymond , Duncan R Davidson , Pascal Dollé , Stylianos E Antonarakis , Marie-Laure Yaspo , Salvador Martinez , Richard A Baldock , Gregor Eichele , Andrea Ballabio

Large-scale gene trapping in C57BL/6N mouse embryonic stem cells.

Genome Res.     Gwenn M Hansen , Diane C Markesich , Michael B Burnett , Qichao Zhu , Karen M Dionne , Lizabeth J Richter , Richard H Finnell , Arthur T Sands , Brian P Zambrowicz , Alejandro Abuin

Antisense transcription in the mammalian transcriptome.

Science     S Katayama , Y Tomaru , T Kasukawa , K Waki , M Nakanishi , M Nakamura , H Nishida , C C Yap , M Suzuki , J Kawai , H Suzuki , P Carninci , Y Hayashizaki , C Wells , M Frith , T Ravasi , K C Pang , J Hallinan , J Mattick , D A Hume , L Lipovich , S Batalov , P G Engström , Y Mizuno , M A Faghihi , A Sandelin , A M Chalk , S Mottagui-Tabar , Z Liang , B Lenhard , C Wahlestedt , RIKEN Genome Exploration Research Group , Genome Science Group (Genome Network Project Core Group) , FANTOM Consortium

The transcriptional landscape of the mammalian genome.

Science     P Carninci , T Kasukawa , S Katayama , J Gough , M C Frith , N Maeda , R Oyama , T Ravasi , B Lenhard , C Wells , R Kodzius , K Shimokawa , V B Bajic , S E Brenner , S Batalov , A R R Forrest , M Zavolan , M J Davis , L G Wilming , V Aidinis , J E Allen , A Ambesi-Impiombato , R Apweiler , R N Aturaliya , T L Bailey , M Bansal , L Baxter , K W Beisel , T Bersano , H Bono , A M Chalk , K P Chiu , V Choudhary , A Christoffels , D R Clutterbuck , M L Crowe , E Dalla , B P Dalrymple , B de Bono , G Della Gatta , D di Bernardo , T Down , P Engstrom , M Fagiolini , G Faulkner , C F Fletcher , T Fukushima , M Furuno , S Futaki , M Gariboldi , P Georgii-Hemming , T R Gingeras , T Gojobori , R E Green , S Gustincich , M Harbers , Y Hayashi , T K Hensch , N Hirokawa , D Hill , L Huminiecki , M Iacono , K Ikeo , A Iwama , T Ishikawa , M Jakt , A Kanapin , M Katoh , Y Kawasawa , J Kelso , H Kitamura , H Kitano , G Kollias , S P T Krishnan , A Kruger , S K Kummerfeld , I V Kurochkin , L F Lareau , D Lazarevic , L Lipovich , J Liu , S Liuni , S McWilliam , M Madan Babu , M Madera , L Marchionni , H Matsuda , S Matsuzawa , H Miki , F Mignone , S Miyake , K Morris , S Mottagui-Tabar , N Mulder , N Nakano , H Nakauchi , P Ng , R Nilsson , S Nishiguchi , S Nishikawa , F Nori , O Ohara , Y Okazaki , V Orlando , K C Pang , W J Pavan , G Pavesi , G Pesole , N Petrovsky , S Piazza , J Reed , J F Reid , B Z Ring , M Ringwald , B Rost , Y Ruan , S L Salzberg , A Sandelin , C Schneider , C Schönbach , K Sekiguchi , C A M Semple , S Seno , L Sessa , Y Sheng , Y Shibata , H Shimada , K Shimada , D Silva , B Sinclair , S Sperling , E Stupka , K Sugiura , R Sultana , Y Takenaka , K Taki , K Tammoja , S L Tan , S Tang , M S Taylor , J Tegner , S A Teichmann , H R Ueda , E van Nimwegen , R Verardo , C L Wei , K Yagi , H Yamanishi , E Zabarovsky , S Zhu , A Zimmer , W Hide , C Bult , S M Grimmond , R D Teasdale , E T Liu , V Brusic , J Quackenbush , C Wahlestedt , J S Mattick , D A Hume , C Kai , D Sasaki , Y Tomaru , S Fukuda , M Kanamori-Katayama , M Suzuki , J Aoki , T Arakawa , J Iida , K Imamura , M Itoh , T Kato , H Kawaji , N Kawagashira , T Kawashima , M Kojima , S Kondo , H Konno , K Nakano , N Ninomiya , T Nishio , M Okada , C Plessy , K Shibata , T Shiraki , S Suzuki , M Tagami , K Waki , A Watahiki , Y Okamura-Oho , H Suzuki , J Kawai , Y Hayashizaki , FANTOM Consortium , RIKEN Genome Exploration Research Group and Genome Science Group (Genome Network Project Core Group)

Genomic analysis of mouse retinal development.

PLoS Biol.     Seth Blackshaw , Sanjiv Harpavat , Jeff Trimarchi , Li Cai , Haiyan Huang , Winston P Kuo , Griffin Weber , Kyungjoon Lee , Rebecca E Fraioli , Seo-Hee Cho , Rachel Yung , Elizabeth Asch , Lucila Ohno-Machado , Wing H Wong , Constance L Cepko

Wnk1 kinase deficiency lowers blood pressure in mice: a gene-trap screen to identify potential targets for therapeutic intervention.

Proc. Natl. Acad. Sci. U.S.A.     Brian P Zambrowicz , Alejandro Abuin , Ramiro Ramirez-Solis , Lizabeth J Richter , James Piggott , Hector BeltrandelRio , Eric C Buxton , Joel Edwards , Rick A Finch , Carl J Friddle , Anupma Gupta , Gwenn Hansen , Yi Hu , Wenhu Huang , Crystal Jaing , Billie Wayne Key , Peter Kipp , Buckley Kohlhauff , Zhi-Qing Ma , Diane Markesich , Robert Payne , David G Potter , Ny Qian , Joseph Shaw , Jeff Schrick , Zheng-Zheng Shi , Mary Jean Sparks , Isaac Van Sligtenhorst , Peter Vogel , Wade Walke , Nianhua Xu , Qichao Zhu , Christophe Person , Arthur T Sands

Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.

Proc. Natl. Acad. Sci. U.S.A.     Robert L Strausberg , Elise A Feingold , Lynette H Grouse , Jeffery G Derge , Richard D Klausner , Francis S Collins , Lukas Wagner , Carolyn M Shenmen , Gregory D Schuler , Stephen F Altschul , Barry Zeeberg , Kenneth H Buetow , Carl F Schaefer , Narayan K Bhat , Ralph F Hopkins , Heather Jordan , Troy Moore , Steve I Max , Jun Wang , Florence Hsieh , Luda Diatchenko , Kate Marusina , Andrew A Farmer , Gerald M Rubin , Ling Hong , Mark Stapleton , M Bento Soares , Maria F Bonaldo , Tom L Casavant , Todd E Scheetz , Michael J Brownstein , Ted B Usdin , Shiraki Toshiyuki , Piero Carninci , Christa Prange , Sam S Raha , Naomi A Loquellano , Garrick J Peters , Rick D Abramson , Sara J Mullahy , Stephanie A Bosak , Paul J McEwan , Kevin J McKernan , Joel A Malek , Preethi H Gunaratne , Stephen Richards , Kim C Worley , Sarah Hale , Angela M Garcia , Laura J Gay , Stephen W Hulyk , Debbie K Villalon , Donna M Muzny , Erica J Sodergren , Xiuhua Lu , Richard A Gibbs , Jessica Fahey , Erin Helton , Mark Ketteman , Anuradha Madan , Stephanie Rodrigues , Amy Sanchez , Michelle Whiting , Anup Madan , Alice C Young , Yuriy Shevchenko , Gerard G Bouffard , Robert W Blakesley , Jeffrey W Touchman , Eric D Green , Mark C Dickson , Alex C Rodriguez , Jane Grimwood , Jeremy Schmutz , Richard M Myers , Yaron S N Butterfield , Martin I Krzywinski , Ursula Skalska , Duane E Smailus , Angelique Schnerch , Jacqueline E Schein , Steven J M Jones , Marco A Marra , Mammalian Gene Collection Program Team

Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs.

Nature     Y Okazaki , M Furuno , T Kasukawa , J Adachi , H Bono , S Kondo , I Nikaido , N Osato , R Saito , H Suzuki , I Yamanaka , H Kiyosawa , K Yagi , Y Tomaru , Y Hasegawa , A Nogami , C Schönbach , T Gojobori , R Baldarelli , D P Hill , C Bult , D A Hume , J Quackenbush , L M Schriml , A Kanapin , H Matsuda , S Batalov , K W Beisel , J A Blake , D Bradt , V Brusic , C Chothia , L E Corbani , S Cousins , E Dalla , T A Dragani , C F Fletcher , A Forrest , K S Frazer , T Gaasterland , M Gariboldi , C Gissi , A Godzik , J Gough , S Grimmond , S Gustincich , N Hirokawa , I J Jackson , E D Jarvis , A Kanai , H Kawaji , Y Kawasawa , R M Kedzierski , B L King , A Konagaya , I V Kurochkin , Y Lee , B Lenhard , P A Lyons , D R Maglott , L Maltais , L Marchionni , L McKenzie , H Miki , T Nagashima , K Numata , T Okido , W J Pavan , G Pertea , G Pesole , N Petrovsky , R Pillai , J U Pontius , D Qi , S Ramachandran , T Ravasi , J C Reed , D J Reed , J Reid , B Z Ring , M Ringwald , A Sandelin , C Schneider , C A M Semple , M Setou , K Shimada , R Sultana , Y Takenaka , M S Taylor , R D Teasdale , M Tomita , R Verardo , L Wagner , C Wahlestedt , Y Wang , Y Watanabe , C Wells , L G Wilming , A Wynshaw-Boris , M Yanagisawa , I Yang , L Yang , Z Yuan , M Zavolan , Y Zhu , A Zimmer , P Carninci , N Hayatsu , T Hirozane-Kishikawa , H Konno , M Nakamura , N Sakazume , K Sato , T Shiraki , K Waki , J Kawai , K Aizawa , T Arakawa , S Fukuda , A Hara , W Hashizume , K Imotani , Y Ishii , M Itoh , I Kagawa , A Miyazaki , K Sakai , D Sasaki , K Shibata , A Shinagawa , A Yasunishi , M Yoshino , R Waterston , E S Lander , J Rogers , E Birney , Y Hayashizaki , FANTOM Consortium , RIKEN Genome Exploration Research Group Phase I & II Team