The expanding phenotype of OFD1‐related disorders: Hemizygous loss‐of‐function variants in three patients with primary ciliary dyskinesia

по Hannah, William B., DeBrosse, Suzanne, Kinghorn, BreAnna, Strausbaugh, Steven, Aitken, Moira L., Rosenfeld, Margaret, Wolf, Whitney E., Knowles, Michael R., Zariwala, Maimoona A.
Опубликовано в: Mol Genet Genomic Med (2019)

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

по 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.
Опубликовано в: 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

по 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
Опубликовано 2013

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

по 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.
Опубликовано 2014

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

по 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.
Опубликовано 2013

DYX1C1 is required for axonemal dynein assembly and ciliary motility

по 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
Опубликовано 2013

ZMYND10 Is Mutated in Primary Ciliary Dyskinesia and Interacts with LRRC6

по 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
Опубликовано 2013