A targeted next-generation sequencing panel reveals novel mutations in Japanese patients with primary ciliary dyskinesia.

Auris Nasus Larynx     Kazuhiko Takeuchi , Masako Kitano , Hiroko Kiyotoshi , Koji Ikegami , Satoru Ogawa , Makoto Ikejiri , Mizuho Nagao , Takao Fujisawa , Kaname Nakatani

Immunofluorescence Analysis and Diagnosis of Primary Ciliary Dyskinesia with Radial Spoke Defects.

Am. J. Respir. Cell Mol. Biol.     Adrien Frommer , Rim Hjeij , Niki T Loges , Christine Edelbusch , Charlotte Jahnke , Johanna Raidt , Claudius Werner , Julia Wallmeier , Jörg Große-Onnebrink , Heike Olbrich , Sandra Cindrić , Martine Jaspers , Mieke Boon , Yasin Memari , Richard Durbin , Anja Kolb-Kokocinski , Sascha Sauer , June K Marthin , Kim G Nielsen , Israel Amirav , Nael Elias , Eitan Kerem , David Shoseyov , Karsten Haeffner , Heymut Omran

Founder mutation in RSPH4A identified in patients of Hispanic descent with primary ciliary dyskinesia.

Hum. Mutat.     M Leigh Anne Daniels , Margaret W Leigh , Stephanie D Davis , Michael C Armstrong , Johnny L Carson , Milan Hazucha , Sharon D Dell , Maria Eriksson , Francis S Collins , Michael R Knowles , Maimoona A Zariwala

Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms.

Hum Mutat     Dinu Antony , Anita Becker-Heck , Maimoona A Zariwala , Miriam Schmidts , Alexandros Onoufriadis , Mitra Forouhan , Robert Wilson , Theresa Taylor-Cox , Ann Dewar , Claire Jackson , Patricia Goggin , Niki T Loges , Heike Olbrich , Martine Jaspers , Mark Jorissen , Margaret W Leigh , Whitney E Wolf , M Leigh Anne Daniels , Peadar G Noone , Thomas W Ferkol , Scott D Sagel , Margaret Rosenfeld , Andrew Rutman , Abhijit Dixit , Christopher O'Callaghan , Jane S Lucas , Claire Hogg , Peter J Scambler , Richard D Emes , Uk10k , Eddie M K Chung , Amelia Shoemark , Michael R Knowles , Heymut Omran , Hannah M Mitchison

Mutations in radial spoke head genes and ultrastructural cilia defects in East-European cohort of primary ciliary dyskinesia patients.

PLoS ONE     Ewa Ziętkiewicz , Zuzanna Bukowy-Bieryłło , Katarzyna Voelkel , Barbara Klimek , Hanna Dmeńska , Andrzej Pogorzelski , Anna Sulikowska-Rowińska , Ewa Rutkiewicz , Michał Witt

Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium.

Brief. Bioinformatics     Pascale Gaudet , Michael S Livstone , Suzanna E Lewis , Paul D Thomas

Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities.

Am J Hum Genet     Victoria H Castleman , Leila Romio , Rahul Chodhari , Robert A Hirst , Sandra C P de Castro , Keith A Parker , Patricia Ybot-Gonzalez , Richard D Emes , Stephen W Wilson , Colin Wallis , Colin A Johnson , Rene J Herrera , Andrew Rutman , Mellisa Dixon , Amelia Shoemark , Andrew Bush , Claire Hogg , R Mark Gardiner , Orit Reish , Nicholas D E Greene , Christopher O'Callaghan , Saul Purton , Eddie M K Chung , Hannah M Mitchison

Toward a confocal subcellular atlas of the human proteome.

Mol Cell Proteomics     Laurent Barbe , Emma Lundberg , Per Oksvold , Anna Stenius , Erland Lewin , Erik Björling , Anna Asplund , Fredrik Pontén , Hjalmar Brismar , Mathias Uhlén , Helene Andersson-Svahn

Complete sequencing and characterization of 21,243 full-length human cDNAs.

Nat. Genet.     Toshio Ota , Yutaka Suzuki , Tetsuo Nishikawa , Tetsuji Otsuki , Tomoyasu Sugiyama , Ryotaro Irie , Ai Wakamatsu , Koji Hayashi , Hiroyuki Sato , Keiichi Nagai , Kouichi Kimura , Hiroshi Makita , Mitsuo Sekine , Masaya Obayashi , Tatsunari Nishi , Toshikazu Shibahara , Toshihiro Tanaka , Shizuko Ishii , Jun-ichi Yamamoto , Kaoru Saito , Yuri Kawai , Yuko Isono , Yoshitaka Nakamura , Kenji Nagahari , Katsuhiko Murakami , Tomohiro Yasuda , Takao Iwayanagi , Masako Wagatsuma , Akiko Shiratori , Hiroaki Sudo , Takehiko Hosoiri , Yoshiko Kaku , Hiroyo Kodaira , Hiroshi Kondo , Masanori Sugawara , Makiko Takahashi , Katsuhiro Kanda , Takahide Yokoi , Takako Furuya , Emiko Kikkawa , Yuhi Omura , Kumi Abe , Kumiko Kamihara , Naoko Katsuta , Kazuomi Sato , Machiko Tanikawa , Makoto Yamazaki , Ken Ninomiya , Tadashi Ishibashi , Hiromichi Yamashita , Katsuji Murakawa , Kiyoshi Fujimori , Hiroyuki Tanai , Manabu Kimata , Motoji Watanabe , Susumu Hiraoka , Yoshiyuki Chiba , Shinichi Ishida , Yukio Ono , Sumiyo Takiguchi , Susumu Watanabe , Makoto Yosida , Tomoko Hotuta , Junko Kusano , Keiichi Kanehori , Asako Takahashi-Fujii , Hiroto Hara , Tomo-o Tanase , Yoshiko Nomura , Sakae Togiya , Fukuyo Komai , Reiko Hara , Kazuha Takeuchi , Miho Arita , Nobuyuki Imose , Kaoru Musashino , Hisatsugu Yuuki , Atsushi Oshima , Naokazu Sasaki , Satoshi Aotsuka , Yoko Yoshikawa , Hiroshi Matsunawa , Tatsuo Ichihara , Namiko Shiohata , Sanae Sano , Shogo Moriya , Hiroko Momiyama , Noriko Satoh , Sachiko Takami , Yuko Terashima , Osamu Suzuki , Satoshi Nakagawa , Akihiro Senoh , Hiroshi Mizoguchi , Yoshihiro Goto , Fumio Shimizu , Hirokazu Wakebe , Haretsugu Hishigaki , Takeshi Watanabe , Akio Sugiyama , Makoto Takemoto , Bunsei Kawakami , Masaaki Yamazaki , Koji Watanabe , Ayako Kumagai , Shoko Itakura , Yasuhito Fukuzumi , Yoshifumi Fujimori , Megumi Komiyama , Hiroyuki Tashiro , Akira Tanigami , Tsutomu Fujiwara , Toshihide Ono , Katsue Yamada , Yuka Fujii , Kouichi Ozaki , Maasa Hirao , Yoshihiro Ohmori , Ayako Kawabata , Takeshi Hikiji , Naoko Kobatake , Hiromi Inagaki , Yasuko Ikema , Sachiko Okamoto , Rie Okitani , Takuma Kawakami , Saori Noguchi , Tomoko Itoh , Keiko Shigeta , Tadashi Senba , Kyoka Matsumura , Yoshie Nakajima , Takae Mizuno , Misato Morinaga , Masahide Sasaki , Takushi Togashi , Masaaki Oyama , Hiroko Hata , Manabu Watanabe , Takami Komatsu , Junko Mizushima-Sugano , Tadashi Satoh , Yuko Shirai , Yukiko Takahashi , Kiyomi Nakagawa , Koji Okumura , Takahiro Nagase , Nobuo Nomura , Hisashi Kikuchi , Yasuhiko Masuho , Riu Yamashita , Kenta Nakai , Tetsushi Yada , Yusuke Nakamura , Osamu Ohara , Takao Isogai , Sumio Sugano

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