Sharon Dell

European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia

Jane S. Lucas, Angelo Barbato, Samuel A. Collins et al. · European Respiratory Journal · 2016 · 703 citations · Full text

Medicine, Clinical Sciences, Diagnostic Reasoning +13

Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test

Anath C. Lionel, Gregory Costain, Nasim Monfared et al. · Genetics in Medicine · 2017 · 565 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Diffuse Lung Disease in Young Children

Gail Deutsch, Lisa R. Young, Robin R. Deterding et al. · American Journal of Respiratory and Critical Care Medicine · 2007 · 513 citations · Full text

Medicine, Child Health, Pediatrics +10

Congenital Heart Disease and Other Heterotaxic Defects in a Large Cohort of Patients With Primary Ciliary Dyskinesia

Marcus P. Kennedy, Heymut Omran, Margaret W. Leigh et al. · Circulation · 2007 · 451 citations · Full text

Medicine, Cardiology, Pediatrics +16

COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis

Levi B. Watkin, Birthe Jessen, Wojciech Wiszniewski et al. · Nature Genetics · 2015 · 399 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11