A reference map of the human binary protein interactome.

Nature     Katja Luck , Dae-Kyum Kim , Luke Lambourne , Kerstin Spirohn , Bridget E Begg , Wenting Bian , Ruth Brignall , Tiziana Cafarelli , Francisco J Campos-Laborie , Benoit Charloteaux , Dongsic Choi , Atina G Coté , Meaghan Daley , Steven Deimling , Alice Desbuleux , Amélie Dricot , Marinella Gebbia , Madeleine F Hardy , Nishka Kishore , Jennifer J Knapp , István A Kovács , Irma Lemmens , Miles W Mee , Joseph C Mellor , Carl Pollis , Carles Pons , Aaron D Richardson , Sadie Schlabach , Bridget Teeking , Anupama Yadav , Mariana Babor , Dawit Balcha , Omer Basha , Christian Bowman-Colin , Suet-Feung Chin , Soon Gang Choi , Claudia Colabella , Georges Coppin , Cassandra D'Amata , David De Ridder , Steffi De Rouck , Miquel Duran-Frigola , Hanane Ennajdaoui , Florian Goebels , Liana Goehring , Anjali Gopal , Ghazal Haddad , Elodie Hatchi , Mohamed Helmy , Yves Jacob , Yoseph Kassa , Serena Landini , Roujia Li , Natascha van Lieshout , Andrew MacWilliams , Dylan Markey , Joseph N Paulson , Sudharshan Rangarajan , John Rasla , Ashyad Rayhan , Thomas Rolland , Adriana San-Miguel , Yun Shen , Dayag Sheykhkarimli , Gloria M Sheynkman , Eyal Simonovsky , Murat Taşan , Alexander Tejeda , Vincent Tropepe , Jean-Claude Twizere , Yang Wang , Robert J Weatheritt , Jochen Weile , Yu Xia , Xinping Yang , Esti Yeger-Lotem , Quan Zhong , Patrick Aloy , Gary D Bader , Javier De Las Rivas , Suzanne Gaudet , Tong Hao , Janusz Rak , Jan Tavernier , David E Hill , Marc Vidal , Frederick P Roth , Michael A Calderwood

CCDC114 is mutated in patient with a complex phenotype combining primary ciliary dyskinesia, sensorineural deafness, and renal disease.

J Hum Genet     Ping Li , Yani He , Guangyan Cai , Fei Xiao , Jie Yang , Qinggang Li , Xiangmei Chen

Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects.

Am J Hum Genet     Niki T Loges , Dinu Antony , Ales Maver , Matthew A Deardorff , Elif Yýlmaz Güleç , Alper Gezdirici , Tabea Nöthe-Menchen , Inga M Höben , Lena Jelten , Diana Frank , Claudius Werner , Johannes Tebbe , Kaman Wu , Elizabeth Goldmuntz , Goran Čuturilo , Bryan Krock , Alyssa Ritter , Rim Hjeij , Zeineb Bakey , Petra Pennekamp , Bernd Dworniczak , Han Brunner , Borut Peterlin , Cansaran Tanidir , Heike Olbrich , Heymut Omran , Miriam Schmidts

TTC25 Deficiency Results in Defects of the Outer Dynein Arm Docking Machinery and Primary Ciliary Dyskinesia with Left-Right Body Asymmetry Randomization.

Am. J. Hum. Genet.     Julia Wallmeier , Hidetaka Shiratori , Gerard W Dougherty , Christine Edelbusch , Rim Hjeij , Niki T Loges , Tabea Menchen , Heike Olbrich , Petra Pennekamp , Johanna Raidt , Claudius Werner , Katsura Minegishi , Kyosuke Shinohara , Yasuko Asai , Katsuyoshi Takaoka , Chanjae Lee , Matthias Griese , Yasin Memari , Richard Durbin , Anja Kolb-Kokocinski , Sascha Sauer , John B Wallingford , Hiroshi Hamada , Heymut Omran

Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.

Cell     Xinping Yang , Jasmin Coulombe-Huntington , Shuli Kang , Gloria M Sheynkman , Tong Hao , Aaron Richardson , Song Sun , Fan Yang , Yun A Shen , Ryan R Murray , Kerstin Spirohn , Bridget E Begg , Miquel Duran-Frigola , Andrew MacWilliams , Samuel J Pevzner , Quan Zhong , Shelly A Trigg , Stanley Tam , Lila Ghamsari , Nidhi Sahni , Song Yi , Maria D Rodriguez , Dawit Balcha , Guihong Tan , Michael Costanzo , Brenda Andrews , Charles Boone , Xianghong J Zhou , Kourosh Salehi-Ashtiani , Benoit Charloteaux , Alyce A Chen , Michael A Calderwood , Patrick Aloy , Frederick P Roth , David E Hill , Lilia M Iakoucheva , Yu Xia , Marc Vidal

A proteome-scale map of the human interactome network.

Cell     Thomas Rolland , Murat Taşan , Benoit Charloteaux , Samuel J Pevzner , Quan Zhong , Nidhi Sahni , Song Yi , Irma Lemmens , Celia Fontanillo , Roberto Mosca , Atanas Kamburov , Susan D Ghiassian , Xinping Yang , Lila Ghamsari , Dawit Balcha , Bridget E Begg , Pascal Braun , Marc Brehme , Martin P Broly , Anne-Ruxandra Carvunis , Dan Convery-Zupan , Roser Corominas , Jasmin Coulombe-Huntington , Elizabeth Dann , Matija Dreze , Amélie Dricot , Changyu Fan , Eric Franzosa , Fana Gebreab , Bryan J Gutierrez , Madeleine F Hardy , Mike Jin , Shuli Kang , Ruth Kiros , Guan Ning Lin , Katja Luck , Andrew MacWilliams , Jörg Menche , Ryan R Murray , Alexandre Palagi , Matthew M Poulin , Xavier Rambout , John Rasla , Patrick Reichert , Viviana Romero , Elien Ruyssinck , Julie M Sahalie , Annemarie Scholz , Akash A Shah , Amitabh Sharma , Yun Shen , Kerstin Spirohn , Stanley Tam , Alexander O Tejeda , Shelly A Trigg , Jean-Claude Twizere , Kerwin Vega , Jennifer Walsh , Michael E Cusick , Yu Xia , Albert-László Barabási , Lilia M Iakoucheva , Patrick Aloy , Javier De Las Rivas , Jan Tavernier , Michael A Calderwood , David E Hill , Tong Hao , Frederick P Roth , Marc Vidal

CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation.

Am J Hum Genet     Rim Hjeij , Alexandros Onoufriadis , Christopher M Watson , Christopher E Slagle , Nikolai T Klena , Gerard W Dougherty , Małgorzata Kurkowiak , Niki T Loges , Christine P Diggle , Nicholas F C Morante , George C Gabriel , Kristi L Lemke , You Li , Petra Pennekamp , Tabea Menchen , Franziska Konert , June Kehlet Marthin , Dorus A Mans , Stef J F Letteboer , Claudius Werner , Thomas Burgoyne , Cordula Westermann , Andrew Rutman , Ian M Carr , Christopher O'Callaghan , Eduardo Moya , Eddie M K Chung , UK10K Consortium , Eamonn Sheridan , Kim G Nielsen , Ronald Roepman , Kerstin Bartscherer , Rebecca D Burdine , Cecilia W Lo , Heymut Omran , Hannah M Mitchison

Loss-of-function mutations in CCDC114 cause primary ciliary dyskinesia.

Clin. Genet.     D H Wu , R R Singaraja

Splice-site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesia.

Am J Hum Genet     Alexandros Onoufriadis , Tamara Paff , Dinu Antony , Amelia Shoemark , Dimitra Micha , Bertus Kuyt , Miriam Schmidts , Stavroula Petridi , Jeanette E Dankert-Roelse , Eric G Haarman , Johannes M A Daniels , Richard D Emes , Robert Wilson , Claire Hogg , Peter J Scambler , Eddie M K Chung , UK10K , Gerard Pals , Hannah M Mitchison

Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia.

Am J Hum Genet     Michael R Knowles , Margaret W Leigh , Lawrence E Ostrowski , Lu Huang , Johnny L Carson , Milan J Hazucha , Weining Yin , Jonathan S Berg , Stephanie D Davis , Sharon D Dell , Thomas W Ferkol , Margaret Rosenfeld , Scott D Sagel , Carlos E Milla , Kenneth N Olivier , Emily H Turner , Alexandra P Lewis , Michael J Bamshad , Deborah A Nickerson , Jay Shendure , Maimoona A Zariwala , Genetic Disorders of Mucociliary Clearance Consortium