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List of works by Claire Hogg

Accuracy of Immunofluorescence in the Diagnosis of Primary Ciliary Dyskinesia

scientific article published on 15 February 2017

Characterizing the ultrastructure of primary ciliary dyskinesia transposition defect using electron tomography.

scientific article

Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules

scientific article published on 25 April 2024

Clinical features and management of children with primary ciliary dyskinesia in England

scientific article published on 10 March 2020

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

scientific article published on 25 December 2019

Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm.

scientific article

DNAAF1 links heart laterality with the AAA+ ATPase RUVBL1 and ciliary intraflagellar transport ⬇️

scientific article published on 7 December 2017

Diagnosis and management of primary ciliary dyskinesia

scientific article

Electron tomography of respiratory cilia

scientific article

European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia

scientific article published on 11 November 2016

Generation of a three-dimensional ultrastructural model of human respiratory cilia

scientific article

High prevalence of CCDC103 p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations

scientific article

Lung function in patients with primary ciliary dyskinesia: an iPCD Cohort study

scientific article published on 23 August 2018

Multicenter analysis of body mass index, lung function, and sputum microbiology in primary ciliary dyskinesia

scientific article

Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms

scientific article

Mutations in ZMYND10, a gene essential for proper axonemal assembly of inner and outer dynein arms in humans and flies, cause primary ciliary dyskinesia

scientific article

Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities

scientific article

Nitric oxide in primary ciliary dyskinesia

scientific article published on 09 March 2012

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

scientific article published on 12 June 2013

PICADAR: a diagnostic predictive tool for primary ciliary dyskinesia

scientific article

Primary Ciliary Dyskinesia: First Health-related Quality-of-Life Measures for Pediatric Patients

scientific article published on 27 July 2016

Primary ciliary dyskinesia: current state of the art.

scientific article

Primary ciliary dyskinesia: recent advances in epidemiology, diagnosis, management and relationship with the expanding spectrum of ciliopathy

scientific article published on December 2012

Primary ciliary dyskinesia: when to suspect the diagnosis and how to confirm it.

scientific article published on 09 April 2009

Proceedings of the 2nd BEAT-PCD conference and 3rd PCD training school: part 1.

scientific article published on 5 March 2018

Proceedings of the COST action BM1407 inaugural conference BEAT-PCD: translational research in primary ciliary dyskinesia - bench, bedside, and population perspectives

scientific article published on 29 November 2016

Splice-site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesia

scientific article

Standardised clinical data from patients with primary ciliary dyskinesia: FOLLOW-PCD

scientific article published on 01 January 2020

Study protocol, rationale and recruitment in a European multi-centre randomized controlled trial to determine the efficacy and safety of azithromycin maintenance therapy for 6 months in primary ciliary dyskinesia

scientific article

Targeted NGS gene panel identifies mutations in RSPH1 causing primary ciliary dyskinesia and a common mechanism for ciliary central pair agenesis due to radial spoke defects.

scientific article

The Controversies and Difficulties of Diagnosing Primary Ciliary Dyskinesia

scientific article published on 01 January 2020

The international primary ciliary dyskinesia cohort (iPCD Cohort): methods and first results

scientific article published on 04 January 2017

Unexpected genetic heterogeneity for primary ciliary dyskinesia in the Irish Traveller population.

scientific article

X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3.

scientific article

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