Search Results - Michael R Knowles

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  1. 1

    Olfactory Dysfunction in Primary Ciliary Dyskinesia by Zainab Farzal, Kelli M. Sullivan, Maimoona A. Zariwala, Brian D. Thorp, Brent A. Senior, Charles S. Ebert Jr, Stephanie Davis, Margaret W. Leigh, Michael R. Knowles, Adam J. Kimple

    Published in OTO Open (2025-01-01)
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  2. 2

    Variation in MSRA modifies risk of neonatal intestinal obstruction in cystic fibrosis. by Lindsay B Henderson, Vishal K Doshi, Scott M Blackman, Kathleen M Naughton, Rhonda G Pace, Jackob Moskovitz, Michael R Knowles, Peter R Durie, Mitchell L Drumm, Garry R Cutting

    Published in PLoS Genetics (2012-01-01)
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  3. 3

    Sperm-associated antigen 6 (SPAG6) deficiency and defects in ciliogenesis and cilia function: polarity, density, and beat. by Maria E Teves, Patrick R Sears, Wei Li, Zhengang Zhang, Waixing Tang, Lauren van Reesema, Richard M Costanzo, C William Davis, Michael R Knowles, Jerome F Strauss, Zhibing Zhang

    Published in PLoS ONE (2014-01-01)
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  4. 4

    Mucin variable number tandem repeat polymorphisms and severity of cystic fibrosis lung disease: significant association with MUC5AC. by Xueliang Guo, Rhonda G Pace, Jaclyn R Stonebraker, Clayton W Commander, Anthony T Dang, Mitchell L Drumm, Ann Harris, Fei Zou, Dallas M Swallow, Fred A Wright, Wanda K O'Neal, Michael R Knowles

    Published in PLoS ONE (2011-01-01)
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  5. 5

    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

    Published in PLoS Genetics (2015-08-01)
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  6. 6

    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

    Published in The Journal of Clinical Investigation (2022-09-01)
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  7. 7

    Progression of Otologic and Nasal Symptoms in Primary Ciliary Dyskinesia Throughout Childhood by Isabelle Dagher, Adam J. Kimple, Thomas W. Ferkol, Scott D. Sagel, Sharon D. Dell, Carlos E. Milla, Lang Li, Feng‐Chang Lin, Kelli M. Sullivan, Maimoona A. Zariwala, Michael R. Knowles, Margaret Rosenfeld, Margaret W. Leigh, Stephanie D. Davis, for the Genetic Disorders of Mucociliary Clearance Consortium

    Published in OTO Open (2025-01-01)
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  8. 8

    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

    Published in PLoS Genetics (2019-02-01)
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  9. 9

    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

    Published in PLoS Genetics (2016-07-01)
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  10. 10

    ODAD4-Related Primary Ciliary Dyskinesia: Report of Five Cases and a Founder Variant in Quebec by Marie-Hélène Bourassa, Guillaume Sillon, Shuizi Ding, Maurizio Chioccioli, Monkol Lek, Kaiyue Ma, Alejandro Mejia-Garcia, Simon Gravel, Donald C. Vinh, Michael R. Knowles, Margaret W. Leigh, Stephanie D. Davis, Thomas Ferkol, Kenneth N. Olivier, Elizabeth N. Schecterman, Weining Yin, Patrick R. Sears, Martina Gentzsch, Susan E. Boyles, William D. Bennett, Kirby L. Zeman, Lawrence E. Ostrowski, Maimoona A. Zariwala, Adam J. Shapiro

    Published in Cells (2025-09-01)
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