PCD Longitudinal Prior to 10

Clinical research for rare disease: opportunities, challenges, and solutions.

R. Griggs, M. Batshaw, M. Dunkle, et al.. (2009). Molecular genetics and metabolism. Cited 358 times. https://doi.org/10.1016/j.ymgme.2008.10.003

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

High Prevalence of Respiratory Ciliary Dysfunction in Congenital Heart Disease Patients With Heterotaxy

N. Nakhleh, Richard Francis, R. Giese, et al.. (2012). Circulation. Cited 182 times. https://doi.org/10.1161/CIRCULATIONAHA.111.079780

Mutations in CCDC39 and CCDC40 are the Major Cause of Primary Ciliary Dyskinesia with Axonemal Disorganization and Absent Inner Dynein Arms

D. Antony, A. Becker-Heck, M. Zariwala, et al.. (2013). Human Mutation. Cited 179 times. https://doi.org/10.1002/humu.22261

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

Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia.

M. Knowles, M. Leigh, L. Ostrowski, et al.. (2013). American journal of human genetics. Cited 141 times. https://doi.org/10.1016/j.ajhg.2012.11.003

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

Ciliopathies: the central role of cilia in a spectrum of pediatric disorders.

T. Ferkol, M. Leigh. (2012). The Journal of pediatrics. Cited 93 times. https://doi.org/10.1016/j.jpeds.2011.11.024

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

Diagnostic yield of nasal scrape biopsies in primary ciliary dyskinesia: A multicenter experience

J. T. Olin, K. Burns, J. Carson, et al.. (2011). Pediatric Pulmonology. Cited 66 times. https://doi.org/10.1002/ppul.21402

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

Cilia and models for studying structure and function.

L. Ostrowski, S. Dutcher, C. Lo. (2011). Proceedings of the American Thoracic Society. Cited 42 times. https://doi.org/10.1513/pats.201103-027SD

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

Human airway ciliary dynamics.

P. Sears, K. Thompson, M. Knowles, et al.. (2013). American journal of physiology. Lung cellular and molecular physiology. Cited 37 times. https://doi.org/10.1152/ajplung.00105.2012

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

Kartagener's syndrome: a genetic defect affecting the function of cilia.

J. Imbrie. (1981). American journal of otolaryngology. Cited 19 times. https://doi.org/10.1016/S0196-0709(81)80018-X

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

Cutting edge genetic studies in primary ciliary dyskinesia

M. Knowles, M. Leigh, M. Zariwala. (2012). Thorax. Cited 5 times. https://doi.org/10.1136/thoraxjnl-2012-201609

Clinical and radiological aspects of Kartagener's syndrome.

R. Ramotowski, W. Guz, E. Zięba, et al.. (2001). Annales Universitatis Mariae Curie-Sklodowska. Sectio D: Medicina. Cited 3 times.

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

Kartagener's syndrome seen on CT.

H. Newmark, G. Willis, E. Ablemayor, et al.. (1985). Computerized radiology : official journal of the Computerized Tomography Society. https://doi.org/10.1016/0730-4862(85)90052-6