Cryo-electron tomography reveals ciliary defects underlying human RSPH1 primary ciliary dyskinesia von Lin, Jianfeng, Yin, Weining, Smith, Maria C., Song, Kangkang, Leigh, Margaret W., Zariwala, Maimoona A., Knowles, Michael R., Ostrowski, Lawrence E., Nicastro, Daniela

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Primary Ciliary Dyskinesia: Recent Advances in Diagnostics, Genetics, and Characterization of Clinical Disease von KNOWLES, Michael R, DANIELS, Leigh Anne, DAVIS, Stephanie D, ZARIWALA, Maimoona A, LEIGH, Margaret W

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Diagnosis, monitoring, and treatment of primary ciliary dyskinesia: PCD foundation consensus recommendations based on state of the art review von Shapiro, Adam J., Zariwala, Maimoona A., Ferkol, Thomas, Davis, Stephanie D., Sagel, Scott D., Dell, Sharon D., Rosenfeld, Margaret, Olivier, Kenneth N., Milla, Carlos, Daniel, Sam J., Kimple, Adam J., Manion, Michele, Knowles, Michael R., Leigh, Margaret W.

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An Official ATS Clinical Practice Guideline: Interpretation of Exhaled Nitric Oxide Levels (FENO) for Clinical Applications von DWEIK, Raed A, BOGGS, Peter B, ERZURUM, Serpil C, IRVIN, Charles G, LEIGH, Margaret W, LUNDBERG, Jon O, OLIN, Anna-Carin, PLUMMER, Alan L, TAYLOR, D. Robin

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Primary Ciliary Dyskinesia: Longitudinal Study of Lung Disease by Ultrastructure Defect and Genotype von Davis, Stephanie D, Rosenfeld, Margaret, Lee, Hye-Seung, Ferkol, Thomas W, Sagel, Scott D, Dell, Sharon D, Milla, Carlos, Pittman, Jessica E, Shapiro, Adam J, Sullivan, Kelli M, Nykamp, Keith R, Krischer, Jeffrey P, Zariwala, Maimoona A, Knowles, Michael R, Leigh, Margaret W

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International consensus guideline for reporting transmission electron microscopy results in the diagnosis of primary ciliary dyskinesia (BEAT PCD TEM Criteria) von Shoemark, Amelia, Boon, Mieke, Brochhausen, Christoph, Bukowy-Bieryllo, Zuzanna, De Santi, Maria M., Goggin, Patricia, Griffin, Paul, Hegele, Richard G., Hirst, Robert A., Leigh, Margaret W., Lupton, Alison, MacKenney, Karen, Omran, Heymut, Pache, Jean-Claude, Pinto, Andreia, Reinholt, Finn P., Schroeder, Josep, Yiallouros, Panayotis, Escudier, Estelle

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Cystic fibrosis airway secretions exhibit mucin hyperconcentration and increased osmotic pressure von Henderson, Ashley G, Ehre, Camille, Button, Brian, Abdullah, Lubna H, Cai, Li-Heng, Leigh, Margaret W, DeMaria, Genevieve C, Matsui, Hiro, Donaldson, Scott H, Davis, C William, Sheehan, John K, Boucher, Richard C, Kesimer, Mehmet

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Clinical features of childhood primary ciliary dyskinesia by genotype and ultrastructural phenotype von Davis, Stephanie D, Ferkol, Thomas W, Rosenfeld, Margaret, Lee, Hye-Seung, Dell, Sharon D, Sagel, Scott D, Milla, Carlos, Zariwala, Maimoona A, Pittman, Jessica E, Shapiro, Adam J, Carson, Johnny L, Krischer, Jeffrey P, Hazucha, Milan J, Cooper, Matthew L, Knowles, Michael R, Leigh, Margaret W

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Clinical Features and Associated Likelihood of Primary Ciliary Dyskinesia in Children and Adolescents von Leigh, Margaret W, Ferkol, Thomas W, Davis, Stephanie D, Lee, Hye-Seung, Rosenfeld, Margaret, Dell, Sharon D, Sagel, Scott D, Milla, Carlos, Olivier, Kenneth N, Sullivan, Kelli M, Zariwala, Maimoona A, Pittman, Jessica E, Shapiro, Adam J, Carson, Johnny L, Krischer, Jeffrey, Hazucha, Milan J, Knowles, Michael R

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Limitations of Nasal Nitric Oxide Testing in Primary Ciliary Dyskinesia von Shapiro, Adam J., Davis, Stephanie D., Leigh, Margaret W., Knowles, Michael R., Lavergne, Valery, Ferkol, Thomas

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Ciliopathies: The Central Role of Cilia in a Spectrum of Pediatric Disorders von Ferkol, Thomas W., MD, Leigh, Margaret W., MD

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Standardizing nasal nitric oxide measurement as a test for primary ciliary dyskinesia von Leigh, Margaret W, Hazucha, Milan J, Chawla, Kunal K, Baker, Brock R, Shapiro, Adam J, Brown, David E, Lavange, Lisa M, Horton, Bethany J, Qaqish, Bahjat, Carson, Johnny L, Davis, Stephanie D, Dell, Sharon D, Ferkol, Thomas W, Atkinson, Jeffrey J, Olivier, Kenneth N, Sagel, Scott D, Rosenfeld, Margaret, Milla, Carlos, Lee, Hye-Seung, Krischer, Jeffrey, Zariwala, Maimoona A, Knowles, Michael R

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Identification of genetic variants in CFAP221 as a cause of primary ciliary dyskinesia von Bustamante-Marin, Ximena M., Shapiro, Adam, Sears, Patrick R., Charng, Wu-Lin, Conrad, Donald F., Leigh, Margaret W., Knowles, Michael R., Ostrowski, Lawrence E., Zariwala, Maimoona A.

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Validation of a health-related quality of life instrument for primary ciliary dyskinesia (QOL-PCD) von Behan, Laura, Leigh, Margaret W, Dell, Sharon D, Dunn Galvin, Audrey, Quittner, Alexandra L, Lucas, Jane S

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ARMC4 Mutations Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry von Hjeij, Rim, Lindstrand, Anna, Francis, Richard, Zariwala, Maimoona A., Liu, Xiaoqin, Li, You, Damerla, Rama, Dougherty, Gerard W., Abouhamed, Marouan, Olbrich, Heike, Loges, Niki T., Pennekamp, Petra, Davis, Erica E., Carvalho, Claudia M.B., Pehlivan, Davut, Werner, Claudius, Raidt, Johanna, Köhler, Gabriele, Häffner, Karsten, Reyes-Mugica, Miguel, Lupski, James R., Leigh, Margaret W., Rosenfeld, Margaret, Morgan, Lucy C., Knowles, Michael R., Lo, Cecilia W., Katsanis, Nicholas, Omran, Heymut

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Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome von Leigh, Margaret W, Pittman, Jessica E, Carson, Johnny L, Ferkol, Thomas W, Dell, Sharon D, Davis, Stephanie D, Knowles, Michael R, Zariwala, Maimoona A

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An international registry for primary ciliary dyskinesia von Werner, Claudius, Lablans, Martin, Ataian, Maximilian, Raidt, Johanna, Wallmeier, Julia, Große-Onnebrink, Jörg, Kuehni, Claudia E, Haarman, Eric G, Leigh, Margaret W, Quittner, Alexandra L, Lucas, Jane S, Hogg, Claire, Witt, Michal, Priftis, Kostas N, Yiallouros, Panayiotis, Nielsen, Kim G, Santamaria, Francesca, Ückert, Frank, Omran, Heymut

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Whole-exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesia von Horani, Amjad, Druley, Todd E, Zariwala, Maimoona A, Patel, Anand C, Levinson, Benjamin T, Van Arendonk, Laura G, Thornton, Katherine C, Giacalone, Joe C, Albee, Alison J, Wilson, Kate S, Turner, Emily H, Nickerson, Deborah A, Shendure, Jay, Bayly, Philip V, Leigh, Margaret W, Knowles, Michael R, Brody, Steven L, Dutcher, Susan K, Ferkol, Thomas W

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Exome Sequencing Identifies Mutations in CCDC114 as a Cause of Primary Ciliary Dyskinesia von Knowles, Michael R., Leigh, Margaret W., Ostrowski, Lawrence E., Huang, Lu, Carson, Johnny L., Hazucha, Milan J., Yin, Weining, Berg, Jonathan S., Davis, Stephanie D., Dell, Sharon D., Ferkol, Thomas W., Rosenfeld, Margaret, Sagel, Scott D., Milla, Carlos E., Olivier, Kenneth N., Turner, Emily H., Lewis, Alexandra P., Bamshad, Michael J., Nickerson, Deborah A., Shendure, Jay, Zariwala, Maimoona A.

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Validation of pediatric health‐related quality of life instruments for primary ciliary dyskinesia (QOL‐PCD) von Behan, Laura, Leigh, Margaret W., Dell, Sharon D., Quittner, Alexandra L., Hogg, Claire, Lucas, Jane S.

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