Laterality Defects Other Than Situs Inversus Totalis in Primary Ciliary Dyskinesia: Insights Into Situs Ambiguus and Heterotaxy

Por Shapiro, Adam J., Davis, Stephanie D., Ferkol, Thomas, Dell, Sharon D., Rosenfeld, Margaret, Olivier, Kenneth N., Sagel, Scott D., Milla, Carlos, Zariwala, Maimoona A., Wolf, Whitney, Carson, Johnny L., Hazucha, Milan J., Burns, Kimberlie, Robinson, Blair, Knowles, Michael R., Leigh, Margaret W.
Publicado no Chest (2014)

Gene Expression in Transformed Lymphocytes Reveals Variation in Endomembrane and HLA Pathways Modifying Cystic Fibrosis Pulmonary Phenotypes

Por O’Neal, Wanda K., Gallins, Paul, Pace, Rhonda G., Dang, Hong, Wolf, Whitney E., Jones, Lisa C., Guo, XueLiang, Zhou, Yi-Hui, Madar, Vered, Huang, Jinyan, Liang, Liming, Moffatt, Miriam F., Cutting, Garry R., Drumm, Mitchell L., Rommens, Johanna M., Strug, Lisa J., Sun, Wei, Stonebraker, Jaclyn R., Wright, Fred A., Knowles, Michael R.
Publicado no Am J Hum Genet (2015)

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

Por Antony, Dinu, Becker-Heck, Anita, Zariwala, Maimoona A, Schmidts, Miriam, Onoufriadis, Alexandros, Forouhan, Mitra, Wilson, Robert, Taylor-Cox, Theresa, Dewar, Ann, Jackson, Claire, Goggin, Patricia, Loges, Niki T, Olbrich, Heike, Jaspers, Martine, Jorissen, Mark, Leigh, Margaret W, Wolf, Whitney E, Daniels, M. Leigh Anne, Noone, Peader G, Ferkol, Thomas W, Sagel, Scott D, Rosenfeld, Margaret, Rutman, Andrew, Dixit, Abhijit, O’Callaghan, Christopher, Lucas, Jane S, Hogg, Claire, Scambler, Peter J, Emes, Richard D, Chung, Eddie MK, Shoemark, Amelia, Knowles, Michael R, Omran, Heymut, Mitchison, Hannah M
Publicado em 2013

Mutations in RSPH1 Cause Primary Ciliary Dyskinesia with a Unique Clinical and Ciliary Phenotype

Por Knowles, Michael R., Ostrowski, Lawrence E., Leigh, Margaret W., Sears, Patrick R., Davis, Stephanie D., Wolf, Whitney E., Hazucha, Milan J., Carson, Johnny L., Olivier, Kenneth N., Sagel, Scott D., Rosenfeld, Margaret, Ferkol, Thomas W., Dell, Sharon D., Milla, Carlos E., Randell, Scott H., Yin, Weining, Sannuti, Aruna, Metjian, Hilda M., Noone, Peadar G., Noone, Peter J., Olson, Christina A., Patrone, Michael V., Dang, Hong, Lee, Hye-Seung, Hurd, Toby W., Gee, Heon Yung, Otto, Edgar A., Halbritter, Jan, Kohl, Stefan, Kircher, Martin, Krischer, Jeffrey, Bamshad, Michael J., Nickerson, Deborah A., Hildebrandt, Friedhelm, Shendure, Jay, Zariwala, Maimoona A.
Publicado em 2014

Mutations in SPAG1 Cause Primary Ciliary Dyskinesia Associated with Defective Outer and Inner Dynein Arms

Por Knowles, Michael R., Ostrowski, Lawrence E., Loges, Niki T., Hurd, Toby, Leigh, Margaret W., Huang, Lu, Wolf, Whitney E., Carson, Johnny L., Hazucha, Milan J., Yin, Weining, Davis, Stephanie D., Dell, Sharon D., Ferkol, Thomas W., Sagel, Scott D., Olivier, Kenneth N., Jahnke, Charlotte, Olbrich, Heike, Werner, Claudius, Raidt, Johanna, Wallmeier, Julia, Pennekamp, Petra, Dougherty, Gerard W., Hjeij, Rim, Gee, Heon Yung, Otto, Edgar A., Halbritter, Jan, Chaki, Moumita, Diaz, Katrina A., Braun, Daniela A., Porath, Jonathan D., Schueler, Markus, Baktai, György, Griese, Matthias, Turner, Emily H., Lewis, Alexandra P., Bamshad, Michael J., Nickerson, Deborah A., Hildebrandt, Friedhelm, Shendure, Jay, Omran, Heymut, Zariwala, Maimoona A.
Publicado em 2013

DYX1C1 is required for axonemal dynein assembly and ciliary motility

Por Tarkar, Aarti, Loges, Niki T., Slagle, Christopher E., Francis, Richard, Dougherty, Gerard W., Tamayo, Joel V., Shook, Brett, Cantino, Marie, Schwartz, Daniel, Jahnke, Charlotte, Olbrich, Heike, Werner, Claudius, Raidt, Johanna, Pennekamp, Petra, Abouhamed, Marouan, Hjeij, Rim, Köhler, Gabriele, Griese, Matthias, Li, You, Lemke, Kristi, Klena, Nikolas, Liu, Xiaoqin, Gabriel, George, Tobita, Kimimasa, Jaspers, Martine, Morgan, Lucy C., Shapiro, Adam J., Letteboer, Stef J.F., Mans, Dorus A., Carson, Johnny L., Leigh, Margaret W., Wolf, Whitney E., Chen, Serafine, Lucas, Jane S., Onoufriadis, Alexandros, Plagnol, Vincent, Schmidts, Miriam, Boldt, Karsten, Roepman, Ronald, Zariwala, Maimoona, Lo, Cecilia W., Mitchison, Hannah M., Knowles, Michael R., Burdine, Rebecca D., LoTurco, Joseph J., Omran, Heymut
Publicado em 2013

ZMYND10 Is Mutated in Primary Ciliary Dyskinesia and Interacts with LRRC6

Por Zariwala, Maimoona A., Gee, Heon Yung, Kurkowiak, Małgorzata, Al-Mutairi, Dalal A., Leigh, Margaret W., Hurd, Toby W., Hjeij, Rim, Dell, Sharon D., Chaki, Moumita, Dougherty, Gerard W., Adan, Mohamed, Spear, Philip C., Esteve-Rudd, Julian, Loges, Niki T., Rosenfeld, Margaret, Diaz, Katrina A., Olbrich, Heike, Wolf, Whitney E., Sheridan, Eamonn, Batten, Trevor F.C., Halbritter, Jan, Porath, Jonathan D., Kohl, Stefan, Lovric, Svjetlana, Hwang, Daw-Yang, Pittman, Jessica E., Burns, Kimberlie A., Ferkol, Thomas W., Sagel, Scott D., Olivier, Kenneth N., Morgan, Lucy C., Werner, Claudius, Raidt, Johanna, Pennekamp, Petra, Sun, Zhaoxia, Zhou, Weibin, Airik, Rannar, Natarajan, Sivakumar, Allen, Susan J., Amirav, Israel, Wieczorek, Dagmar, Landwehr, Kerstin, Nielsen, Kim, Schwerk, Nicolaus, Sertic, Jadranka, Köhler, Gabriele, Washburn, Joseph, Levy, Shawn, Fan, Shuling, Koerner-Rettberg, Cordula, Amselem, Serge, Williams, David S., Mitchell, Brian J., Drummond, Iain A., Otto, Edgar A., Omran, Heymut, Knowles, Michael R., Hildebrandt, Friedhelm
Publicado em 2013