Studies
Longitudinal Study of PCD: 5-18 Years of Age
Longitudinal Study of PCD: 5-18 Years of Age
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Overview
Selected Publications (11)
Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure
M. Knowles, M. Leigh, J. Carson, et al.. (2011). Thorax. Cited 216 times.
https://doi.org/10.1136/thoraxjnl-2011-200301
Whole-exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesia.
A. Horani, T. Druley, M. Zariwala, et al.. (2012). American journal of human genetics. Cited 178 times.
https://doi.org/10.1016/j.ajhg.2012.08.022
The emerging genetics of primary ciliary dyskinesia.
M. Zariwala, H. Omran, T. Ferkol. (2011). Proceedings of the American Thoracic Society. Cited 94 times.
https://doi.org/10.1513/pats.201103-023SD
The challenges of diagnosing primary ciliary dyskinesia.
M. Leigh, C. O’Callaghan, M. Knowles. (2011). Proceedings of the American Thoracic Society. Cited 78 times.
https://doi.org/10.1513/pats.201103-028SD
Update of respiratory tract disease in children with primary ciliary dyskinesia.
S. Sagel, S. Davis, P. Campisi, et al.. (2011). Proceedings of the American Thoracic Society. Cited 63 times.
https://doi.org/10.1513/pats.201103-024SD
Diagnostic value of nasal nitric oxide measured with non-velum closure techniques for children with primary ciliary dyskinesia.
D. Mateos-Corral, R. Coombs, H. Grasemann, et al.. (2011). The Journal of pediatrics. Cited 62 times.
https://doi.org/10.1016/j.jpeds.2011.03.007
Next generation massively parallel sequencing of targeted exomes to identify genetic mutations in primary ciliary dyskinesia: Implications for application to clinical testing
J. Berg, J. Evans, M. Leigh, et al.. (2011). Genetics in Medicine. Cited 62 times.
https://doi.org/10.1097/GIM.0b013e318203cff2
Primary Ciliary Dyskinesia in Children: A Review for Pediatricians, Allergists, and Pediatric Pulmonologists
P. Stillwell, E. Wartchow, S. Sagel. (2011). Pediatric Allergy, Immunology, and Pulmonology. Cited 42 times.
https://doi.org/10.1089/ped.2011.0099
Primary ciliary dyskinesia-causing mutations in Amish and Mennonite communities.
T. Ferkol, E. Puffenberger, Hauw Lie, et al.. (2013). The Journal of pediatrics. Cited 31 times.
https://doi.org/10.1016/j.jpeds.2013.01.061
Primary ciliary dyskinesia in Amish communities.
Hauw Lie, M. Zariwala, C. Helms, et al.. (2010). The Journal of pediatrics. Cited 18 times.
https://doi.org/10.1016/j.jpeds.2010.01.054
Introduction: primary ciliary dyskinesia and overlapping syndromes.
S. Davis, M. Knowles, M. Leigh. (2011). Proceedings of the American Thoracic Society. Cited 2 times.
https://doi.org/10.1513/pats.201103-026SD
