Patricia Goggin

Mutations in<i>CCDC</i><i>39</i>and<i>CCDC</i><i>40</i>are the Major Cause of Primary Ciliary Dyskinesia with Axonemal Disorganization and Absent Inner Dynein Arms

Dinu Antony, Anita Becker-Heck, Maimoona A. Zariwala et al. · Human Mutation · 2012 · 190 citations · Full text

International consensus guideline for reporting transmission electron microscopy results in the diagnosis of primary ciliary dyskinesia (BEAT PCD TEM Criteria)

Amelia Shoemark, Mieke Boon, Christoph Brochhausen et al. · European Respiratory Journal · 2020 · 143 citations · Full text

Culture of Primary Ciliary Dyskinesia Epithelial Cells at Air-Liquid Interface Can Alter Ciliary Phenotype but Remains a Robust and Informative Diagnostic Aid

Robert A. Hirst, Claire Jackson, Janice Coles et al. · PLoS ONE · 2014 · 115 citations · Full text

Accuracy of diagnostic testing in primary ciliary dyskinesia

Claire Jackson, Laura Behan, Samuel A. Collins et al. · European Respiratory Journal · 2015 · 98 citations · Full text

Clinical utility of NGS diagnosis and disease stratification in a multiethnic primary ciliary dyskinesia cohort

Mahmoud R. Fassad, Mitali Patel, Amelia Shoemark et al. · Journal of Medical Genetics · 2019 · 91 citations