Primary ciliary dyskinesia in Japan: systematic review and meta-analysis by Atsushi Inaba, Masanori Furuhata, Kozo Morimoto, Mahbubur Rahman, Osamu Takahashi, Minako Hijikata, Michael R. Knowles, Naoto Keicho

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Autosomal dominant variants in FOXJ1 causing primary ciliary dyskinesia in two patients with obstructive hydrocephalus by Adam J. Shapiro, Kimberley Kaspy, M. Leigh Ann Daniels, Jaclyn R. Stonebraker, Van‐Hung Nguyen, Lyne Joyal, Michael R. Knowles, Maimoona A. Zariwala

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The expanding phenotype of OFD1‐related disorders: Hemizygous loss‐of‐function variants in three patients with primary ciliary dyskinesia by William B. Hannah, Suzanne DeBrosse, BreAnna Kinghorn, Steven Strausbaugh, Moira L. Aitken, Margaret Rosenfeld, Whitney E. Wolf, Michael R. Knowles, Maimoona A. Zariwala

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Analysis of a large cohort of cystic fibrosis patients with severe liver disease indicates lung function decline does not significantly differ from that of the general cystic fibro... by Deepika Polineni, Annalisa V Piccorelli, William B Hannah, Sarah N Dalrymple, Rhonda G Pace, Peter R Durie, Simon C Ling, Michael R Knowles, Jaclyn R Stonebraker

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Early childhood lung function is a stronger predictor of adolescent lung function in cystic fibrosis than early Pseudomonas aeruginosa infection. by Jessica E Pittman, Hannah Noah, Hollin E Calloway, Stephanie D Davis, Margaret W Leigh, Mitchell Drumm, Scott D Sagel, Frank J Accurso, Michael R Knowles, Marci K Sontag

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Mining GWAS and eQTL data for CF lung disease modifiers by gene expression imputation. by Hong Dang, Deepika Polineni, Rhonda G Pace, Jaclyn R Stonebraker, Harriet Corvol, Garry R Cutting, Mitchell L Drumm, Lisa J Strug, Wanda K O'Neal, Michael R Knowles

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Recurring large deletion in DRC1 (CCDC164) identified as causing primary ciliary dyskinesia in two Asian patients by Kozo Morimoto, Minako Hijikata, Maimoona A. Zariwala, Keith Nykamp, Atsushi Inaba, Tz‐Chun Guo, Hiroyuki Yamada, Rebecca Truty, Yuka Sasaki, Ken Ohta, Shoji Kudoh, Margaret W. Leigh, Michael R. Knowles, Naoto Keicho

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Histo-blood group gene polymorphisms as potential genetic modifiers of infection and cystic fibrosis lung disease severity. by Jennifer L Taylor-Cousar, Maimoona A Zariwala, Lauranell H Burch, Rhonda G Pace, Mitchell L Drumm, Hollin Calloway, Haiying Fan, Brent W Weston, Fred A Wright, Michael R Knowles, Gene Modifier Study Group

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Mutation of CFAP57, a protein required for the asymmetric targeting of a subset of inner dynein arms in Chlamydomonas, causes primary ciliary dyskinesia. by Ximena M Bustamante-Marin, Amjad Horani, Mihaela Stoyanova, Wu-Lin Charng, Mathieu Bottier, Patrick R Sears, Wei-Ning Yin, Leigh Anne Daniels, Hailey Bowen, Donald F Conrad, Michael R Knowles, Lawrence E Ostrowski, Maimoona A Zariwala, Susan K Dutcher

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Exome Sequencing of Phenotypic Extremes Identifies CAV2 and TMC6 as Interacting Modifiers of Chronic Pseudomonas aeruginosa Infection in Cystic Fibrosis. by Mary J Emond, Tin Louie, Julia Emerson, Jessica X Chong, Rasika A Mathias, Michael R Knowles, Mark J Rieder, Holly K Tabor, Debbie A Nickerson, Kathleen C Barnes, NHLBI GO Exome Sequencing Project, Lung Go, Ronald L Gibson, Michael J Bamshad

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Correction: Exome Sequencing of Phenotypic Extremes Identifies CAV2 and TMC6 as Interacting Modifiers of Chronic Pseudomonas aeruginosa Infection in Cystic Fibrosis. by Mary J Emond, Tin Louie, Julia Emerson, Jessica X Chong, Rasika A Mathias, Michael R Knowles, Mark J Rieder, Holly K Tabor, Debbie A Nickerson, Kathleen C Barnes, NHLBI GO Exome Sequencing Project, Lung Go, Ronald L Gibson, Michael J Bamshad

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Small-molecule eRF3a degraders rescue CFTR nonsense mutations by promoting premature termination codon readthrough by Rhianna E. Lee, Catherine A. Lewis, Lihua He, Emily C. Bulik-Sullivan, Samuel C. Gallant, Teresa M. Mascenik, Hong Dang, Deborah M. Cholon, Martina Gentzsch, Lisa C. Morton, John T. Minges, Jonathan W. Theile, Neil A. Castle, Michael R. Knowles, Adam J. Kimple, Scott H. Randell

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Genetic association and transcriptome integration identify contributing genes and tissues at cystic fibrosis modifier loci. by Jiafen Gong, Fan Wang, Bowei Xiao, Naim Panjwani, Fan Lin, Katherine Keenan, Julie Avolio, Mohsen Esmaeili, Lin Zhang, Gengming He, David Soave, Scott Mastromatteo, Zeynep Baskurt, Sangook Kim, Wanda K O'Neal, Deepika Polineni, Scott M Blackman, Harriet Corvol, Garry R Cutting, Mitchell Drumm, Michael R Knowles, Johanna M Rommens, Lei Sun, Lisa J Strug

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Mutation of Growth Arrest Specific 8 Reveals a Role in Motile Cilia Function and Human Disease. by Wesley R Lewis, Erik B Malarkey, Douglas Tritschler, Raqual Bower, Raymond C Pasek, Jonathan D Porath, Susan E Birket, Sophie Saunier, Corinne Antignac, Michael R Knowles, Margaret W Leigh, Maimoona A Zariwala, Anil K Challa, Robert A Kesterson, Steven M Rowe, Iain A Drummond, John M Parant, Friedhelm Hildebrandt, Mary E Porter, Bradley K Yoder, Nicolas F Berbari

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Accounting for population structure in genetic studies of cystic fibrosis by Hanley Kingston, Adrienne M. Stilp, William Gordon, Jai Broome, Stephanie M. Gogarten, Hua Ling, John Barnard, Shannon Dugan-Perez, Patrick T. Ellinor, Stacey Gabriel, Soren Germer, Richard A. Gibbs, Namrata Gupta, Kenneth Rice, Albert V. Smith, Michael C. Zody, Scott M. Blackman, Garry Cutting, Michael R. Knowles, Yi-Hui Zhou, Margaret Rosenfeld, Ronald L. Gibson, Michael Bamshad, Alison Fohner, Elizabeth E. Blue

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