A Revised Protocol for Culture of Airway Epithelial Cells as a Diagnostic Tool for Primary Ciliary Dyskinesia

International consensus guideline for reporting transmission electron microscopy results in the diagnosis of Primary Ciliary Dyskinesia (BEAT PCD TEM Criteria)

(2020) Amelia Shoemark et al.   EUROPEAN RESPIRATORY JOURNAL

A quantitative super-resolution imaging toolbox for diagnosis of motile ciliopathies

(2020) Zhen Liu et al.   Science Translational Medicine

Motile ciliopathies

(2020) Julia Wallmeier et al.   Nature Reviews Disease Primers

Accuracy of High-Speed Video Analysis to Diagnose Primary Ciliary Dyskinesia

(2019) Bruna Rubbo et al.   CHEST

SPEF2- and HYDIN-mutant Cilia Lack the Central Pair Associated Protein SPEF2 Aiding PCD Diagnostics

(2019) Sandra Cindrić et al.   AMERICAN JOURNAL OF RESPIRATORY CELL AND MOLECULAR BIOLOGY

ERS and ATS diagnostic guidelines for primary ciliary dyskinesia: similarities and differences in approach to diagnosis

(2019) Amelia Shoemark et al.   EUROPEAN RESPIRATORY JOURNAL

De Novo Mutations in FOXJ1 Result in a Motile Ciliopathy with Hydrocephalus and Randomization of Left/Right Body Asymmetry

(2019) Julia Wallmeier et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Primary ciliary dyskinesia in the genomics age

(2019) Jane S Lucas et al.   Lancet Respiratory Medicine

Diagnosis of Primary Ciliary Dyskinesia. An Official American Thoracic Society Clinical Practice Guideline

(2018) Adam J. Shapiro et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects

(2018) Niki T. Loges et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Primary ciliary dyskinesia ciliated airway cells show increased susceptibility to Haemophilus influenzae biofilm formation

(2017) Woolf T. Walker et al.   EUROPEAN RESPIRATORY JOURNAL

High prevalence ofCCDC103p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations

(2017) Amelia Shoemark et al.   THORAX

Secondary defects detected by transmission electron microscopy in primary ciliary dyskinesia diagnostics

(2017) Mellisa Dixon et al.   ULTRASTRUCTURAL PATHOLOGY

Clinical care of children with primary ciliary dyskinesia

(2017) Jane S. Lucas et al.   Expert Review of Respiratory Medicine

DNAH11 Localization in the Proximal Region of Respiratory Cilia Defines Distinct Outer Dynein Arm Complexes

(2016) Gerard W. Dougherty et al.   AMERICAN JOURNAL OF RESPIRATORY CELL AND MOLECULAR BIOLOGY

Cephalosporin-3’ -diazeniumdiolate NO-donor prodrug PYRRO-C3D enhances azithromycin susceptibility of Non-typeable Haemophilus influenzae biofilms

(2016) Samuel A Collins et al.   ANTIMICROBIAL AGENTS AND CHEMOTHERAPY

PICADAR: a diagnostic predictive tool for primary ciliary dyskinesia

(2016) Laura Behan et al.   EUROPEAN RESPIRATORY JOURNAL

European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia

(2016) Jane S. Lucas et al.   EUROPEAN RESPIRATORY JOURNAL

Gene editing ofDNAH11restores normal cilia motility in primary ciliary dyskinesia

(2016) Michele Lai et al.   JOURNAL OF MEDICAL GENETICS

Primary Air–Liquid Interface Culture of Nasal Epithelium for Nasal Drug Delivery

(2016) Hui Xin Ong et al.   MOLECULAR PHARMACEUTICS

Loss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory Complex

(2015) Heike Olbrich et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Accuracy of diagnostic testing in primary ciliary dyskinesia

(2015) Claire L. Jackson et al.   EUROPEAN RESPIRATORY JOURNAL

Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia

(2015) Christian R. Marshall et al.   G3-Genes Genomes Genetics

Respiratory Syncytial Virus Increases the Virulence ofStreptococcus pneumoniaeby Binding to Penicillin Binding Protein 1a. A New Paradigm in Respiratory Infection

(2014) Claire M. Smith et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

Diagnosis and management of primary ciliary dyskinesia

(2014) J. S. Lucas et al.   ARCHIVES OF DISEASE IN CHILDHOOD

Ciliated Cultures From Patients With Primary Ciliary Dyskinesia Produce Nitric Oxide in Response to Haemophilus influenzae Infection and Proinflammatory Cytokines

(2014) Woolf T. Walker et al.   CHEST

Diagnosis of primary ciliary dyskinesia: searching for a gold standard

(2014) Jane S. Lucas et al.   EUROPEAN RESPIRATORY JOURNAL

Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia

(2014) Julia Wallmeier et al.   NATURE GENETICS

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

(2014) Robert A. Hirst et al.   PLoS One

MCIDAS mutations result in a mucociliary clearance disorder with reduced generation of multiple motile cilia

(2014) Mieke Boon et al.   Nature Communications

Ciliary dyskinesia is an early feature of respiratory syncytial virus infection

(2013) C. M. Smith et al.   EUROPEAN RESPIRATORY JOURNAL

Overcoming challenges in the management of primary ciliary dyskinesia: The UK model

(2013) Jane S. Lucas et al.   Paediatric Respiratory Reviews

Barrier responses of human bronchial epithelial cells to grass pollen exposure

(2012) Cornelia Blume et al.   EUROPEAN RESPIRATORY JOURNAL

Rapid diagnosis of primary ciliary dyskinesia: cell culture and soft computing analysis

(2012) Massimo Pifferi et al.   EUROPEAN RESPIRATORY JOURNAL

CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms

(2012) Jennifer R Panizzi et al.   NATURE GENETICS

Twenty-year review of quantitative transmission electron microscopy for the diagnosis of primary ciliary dyskinesia

(2011) A Shoemark et al.   JOURNAL OF CLINICAL PATHOLOGY

Ciliated Air-Liquid Cultures as an Aid to Diagnostic Testing of Primary Ciliary Dyskinesia

(2010) Robert A. Hirst et al.   CHEST

High prevalence of primary ciliary dyskinesia in a British Asian population

(2009) C O'Callaghan et al.   ARCHIVES OF DISEASE IN CHILDHOOD

Simplified cell culture method for the diagnosis of atypical primary ciliary dyskinesia

(2009) M Pifferi et al.   THORAX