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American Journal of Human Genetics|July 16, 2013
ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetryRim Hjeij, Anna Lindstrand, Richard Francis, et al.
American Journal of Human Genetics|April 18, 2024
MagicalRsq-X: A cross-cohort transferable genotype imputation quality metricQuan Sun, Yingxi Yang, Jonathan D Rosen, et al.
American Journal of Human Genetics|October 22, 2019
De Novo Mutations in FOXJ1 Result in a Motile Ciliopathy with Hydrocephalus and Randomization of Left/Right Body AsymmetryJulia Wallmeier, Diana Frank, Amelia Shoemark, et al.
American Journal of Respiratory and Critical Care Medicine|June 16, 2018
Diagnosis of Primary Ciliary Dyskinesia. An Official American Thoracic Society Clinical Practice GuidelineAdam J Shapiro, Stephanie D Davis, Deepika Polineni, et al.
Nature Genetics|April 3, 2012
Multiple apical plasma membrane constituents are associated with susceptibility to meconium ileus in individuals with cystic fibrosisLei Sun, Johanna M Rommens, Harriet Corvol, et al.
American Journal of Respiratory and Critical Care Medicine|March 15, 2023
Genetic Modifiers of Cystic Fibrosis Lung Disease Severity: Whole-Genome Analysis of 7,840 PatientsYi-Hui Zhou, Paul J Gallins, Rhonda G Pace, et al.
JAMA|September 10, 2009
Genetic modifiers of liver disease in cystic fibrosisJaclyn R Bartlett, Kenneth J Friedman, Simon C Ling, et al.
Nature Communications|September 30, 2015
Genome-wide association meta-analysis identifies five modifier loci of lung disease severity in cystic fibrosisHarriet Corvol, Scott M Blackman, Pierre-Yves Boëlle, et al.
Human Mutation|December 21, 2012
Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein armsDinu Antony, Anita Becker-Heck, Maimoona A Zariwala, et al.
Nature Genetics|May 24, 2011
Genome-wide association and linkage identify modifier loci of lung disease severity in cystic fibrosis at 11p13 and 20q13.2Fred A Wright, Lisa J Strug, Vishal K Doshi, et al.
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