Mechanism for generation of left isomerism in Ccdc40 mutant embryos.

PLoS ONE     Kelsey F Sugrue , Irene E Zohn

Mutations in GAS8, a Gene Encoding a Nexin-Dynein Regulatory Complex Subunit, Cause Primary Ciliary Dyskinesia with Axonemal Disorganization.

Hum. Mutat.     Ludovic Jeanson , Lucie Thomas , Bruno Copin , André Coste , Isabelle Sermet-Gaudelus , Florence Dastot-Le Moal , Philippe Duquesnoy , Guy Montantin , Nathalie Collot , Sylvie Tissier , Jean-François Papon , Annick Clement , Bruno Louis , Estelle Escudier , Serge Amselem , Marie Legendre

Loss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory Complex.

Am. J. Hum. Genet.     Heike Olbrich , Carolin Cremers , Niki T Loges , Claudius Werner , Kim G Nielsen , June K Marthin , Maria Philipsen , Julia Wallmeier , Petra Pennekamp , Tabea Menchen , Christine Edelbusch , Gerard W Dougherty , Oliver Schwartz , Holger Thiele , Janine Altmüller , Frank Rommelmann , Heymut Omran

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

Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia.

J. Med. Genet.     Sylvain Blanchon , Marie Legendre , Bruno Copin , Philippe Duquesnoy , Guy Montantin , Esther Kott , Florence Dastot , Ludovic Jeanson , Marine Cachanado , Alexandra Rousseau , Jean François Papon , Nicole Beydon , Jacques Brouard , Bruno Crestani , Antoine Deschildre , Julie Désir , Hélène Dollfus , Bruno Leheup , Aline Tamalet , Caroline Thumerelle , Anne-Marie Vojtek , Denise Escalier , André Coste , Jacques de Blic , Annick Clément , Estelle Escudier , Serge Amselem

High prevalence of respiratory ciliary dysfunction in congenital heart disease patients with heterotaxy.

Circulation     Nader Nakhleh , Richard Francis , Rachel A Giese , Xin Tian , You Li , Maimoona A Zariwala , Hisato Yagi , Omar Khalifa , Safina Kureshi , Bishwanath Chatterjee , Steven L Sabol , Matthew Swisher , Patricia S Connelly , Mathew P Daniels , Ashok Srinivasan , Karen Kuehl , Nadav Kravitz , Kimberlie Burns , Iman Sami , Heymut Omran , Michael Barmada , Kenneth Olivier , Kunal K Chawla , Margaret Leigh , Richard Jonas , Michael Knowles , Linda Leatherbury , Cecilia W Lo

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

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

The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation.

Nat. Genet.     Anita Becker-Heck , Irene E Zohn , Noriko Okabe , Andrew Pollock , Kari Baker Lenhart , Jessica Sullivan-Brown , Jason McSheene , Niki T Loges , Heike Olbrich , Karsten Haeffner , Manfred Fliegauf , Judith Horvath , Richard Reinhardt , Kim G Nielsen , June K Marthin , Gyorgy Baktai , Kathryn V Anderson , Robert Geisler , Lee Niswander , Heymut Omran , Rebecca D Burdine

Gene and alternative splicing annotation with AIR.

Genome Res.     Liliana Florea , Valentina Di Francesco , Jason Miller , Russell Turner , Alison Yao , Michael Harris , Brian Walenz , Clark Mobarry , Gennady V Merkulov , Rosane Charlab , Ian Dew , Zuoming Deng , Sorin Istrail , Peter Li , Granger Sutton