Concepedia

Exome Sequencing Identifies Mutations in CCDC114 as a Cause of Primary Ciliary Dyskinesia

Michael R. Knowles, Margaret W. Leigh, Lawrence E. Ostrowski, Lu Huang, Johnny L. Carson, Milan J. Hazucha, Weining Yin, Jonathan S. Berg, Stephanie D. Davis, Sharon Dell,

The American Journal of Human Genetics · 2012 · 147 citations · 25 references

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25

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

Brian J. O’Roak, Pelagia Deriziotis, Choli Lee et al. · Nature Genetics · 2011 · 1.2K citations · Full text

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Primary Ciliary Dyskinesia

Peadar G. Noone, Margaret W. Leigh, Aruna Sannuti et al. · American Journal of Respiratory and Critical Care Medicine · 2003 · 851 citations

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Well-Differentiated Human Airway Epithelial Cell Cultures

M. Leslie Fulcher, Sherif E. Gabriel, Kimberlie A. Burns et al. · Humana Press eBooks · 2004 · 634 citations

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Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left–right asymmetry

Heike Olbrich, Karsten Häffner, Andreas Kispert et al. · Nature Genetics · 2002 · 557 citations

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Mucociliary Differentiation of Serially Passaged Normal Human Tracheobronchial Epithelial Cells

Thomas E. Gray, Karen Guzmán, C. William Davis et al. · American Journal of Respiratory Cell and Molecular Biology · 1996 · 504 citations

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