Associated Papers
Analyses of 1236 genotyped primary ciliary dyskinesia individuals identify regional clusters of distinct DNA variants and significant genotype-phenotype correlations.
Raidt J et al.
The European Respiratory Journal, 2024
Clinical utility of NGS diagnosis and disease stratification in a multiethnic primary ciliary dyskinesia cohort.
Fassad MR et al.
Journal of Medical Genetics, 2020
Genetic basis of human left-right asymmetry disorders.
Deng H et al.
Expert Reviews in Molecular Medicine, 2015
16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy.
Reinthaler EM et al.
Human Molecular Genetics, 2014
Primary ciliary dyskinesia-causing mutations in Amish and Mennonite communities.
Ferkol TW et al.
The Journal of Pediatrics, 2013
Effectiveness of sequencing selected exons of DNAH5 and DNAI1 in diagnosis of primary ciliary dyskinesia.
Djakow J et al.
Pediatric Pulmonology, 2012
The emerging genetics of primary ciliary dyskinesia.
Zariwala MA et al.
Proceedings of the American Thoracic Society, 2011
Primary ciliary dyskinesia in Amish communities.
Lie H et al.
The Journal of Pediatrics, 2010
Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome.
Leigh MW et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2009
Ciliary defects and genetics of primary ciliary dyskinesia.
Escudier E et al.
Paediatric Respiratory Reviews, 2009
DNAI2 mutations cause primary ciliary dyskinesia with defects in the outer dynein arm.
Loges NT et al.
American Journal of Human Genetics, 2008
Genetic causes of bronchiectasis: primary ciliary dyskinesia.
Morillas HN et al.
Respiration; International Review of Thoracic Diseases, 2007
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