List of works - Amelia Shoemark

A Hybrid Architecture (CO-CONNECT) to Facilitate Rapid Discovery and Access to Data Across the United Kingdom in Response to the COVID-19 Pandemic: Development Study

scientific article published in 2022

A longitudinal study characterising a large adult primary ciliary dyskinesia population

scientific article (publication date: 10 June 2016)

A point-of-care neutrophil elastase activity assay identifies bronchiectasis severity, airway infection and risk of exacerbation

scientific article published on 13 June 2019

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

scientific article published on 28 February 2019

Accuracy of Immunofluorescence in the Diagnosis of Primary Ciliary Dyskinesia

scientific article published on 15 February 2017

Aetiology in adult patients with bronchiectasis.

scientific article published on 12 January 2007

Airway Bacterial Load and Inhaled Antibiotic Response in Bronchiectasis

scientific article published on 01 July 2019

An extracellular matrix fragment drives epithelial remodeling and airway hyperresponsiveness.

scientific article published in August 2018

Antimicrobial peptides, disease severity and exacerbations in bronchiectasis

scientific article published on 05 July 2019

Applications of emerging transmission electron microscopy technology in PCD research and diagnosis

scientific article published on 18 September 2017

Assessment of F/HN-pseudotyped lentivirus as a clinically relevant vector for lung gene therapy

scientific article

BMI-1 extends proliferative potential of human bronchial epithelial cells while retaining their mucociliary differentiation capacity

scientific article published on 15 December 2016

Bardet Biedl syndrome: motile ciliary phenotype

scientific article published on March 2015

Bronchial and peripheral airway nitric oxide in primary ciliary dyskinesia and bronchiectasis

scientific article published on 30 December 2008

C11orf70 Mutations Disrupting the Intraflagellar Transport-Dependent Assembly of Multiple Axonemal Dyneins Cause Primary Ciliary Dyskinesia

scientific article

CXCL-8-dependent and -independent neutrophil activation in COPD: experiences from a pilot study of the CXCR2 antagonist danirixin

scientific article published on 01 October 2020

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 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

Cyanide levels found in infected cystic fibrosis sputum inhibit airway ciliary function

scientific article published on 3 September 2014

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

scientific article published on 7 December 2017

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

scientific article published on 17 October 2019

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

scientific article published on 05 September 2019

Electron tomography of respiratory cilia

scientific article

Elevated peripheral airway nitric oxide in bronchiectasis reflects disease severity

scientific article published on 12 March 2011

European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia

scientific article published on 11 November 2016

Exhaled Breath Condensate pH as a Non-invasive Measure of Inflammation in Non-CF Bronchiectasis

Exploring the Art of Ciliary Beating: The Benefits of High-Speed Video Analysis

scientific article published in December 2017

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

scientific article

HEATR2 plays a conserved role in assembly of the ciliary motile apparatus ⬇️

scientific article

Haemophilus influenzae biofilms in primary ciliary dyskinesia: a moving story

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

Impact of T2R38 Receptor Polymorphisms on Pseudomonas aeruginosa Infection in Cystic Fibrosis.

scientific article

Impaired innate interferon induction in severe therapy resistant atopic asthmatic children

scientific article published on 05 December 2012

Increased nuclear suppressor of cytokine signaling 1 in asthmatic bronchial epithelium suppresses rhinovirus induction of innate interferons

scientific article

Inhaled Aztreonam improves symptoms of cough and sputum production in patients with bronchiectasis: a post-hoc analysis of the AIR-BX studies

scientific article published on 07 April 2020

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

scientific article published on 14 February 2020

Lung Clearance Index (LCI) is Stable in Most Primary Ciliary Dyskinesia (PCD) Patients Managed in a Specialist Centre: a Pilot Study.

scientific article published on 20 June 2017

Models of Ciliary Dysfunction: Time to Expand

scientific article published on 01 September 2018

Motile cilia defects in diseases other than primary ciliary dyskinesia: The contemporary diagnostic and research role for transmission electron microscopy

scientific article published on 19 September 2017

Mutations in ARL2BP, encoding ADP-ribosylation-factor-like 2 binding protein, cause autosomal-recessive retinitis pigmentosa

scientific article published on 11 July 2013

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 Outer Dynein Arm Heavy Chain DNAH9 Cause Motile Cilia Defects and Situs Inversus.

scientific article published on 21 November 2018

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

Phenotypic variability of CCDC103 mutation in British Pakistani children with Primary Ciliary Dyskinesia (PCD).

scientific article published on 13 July 2015

Pregnancy Zone Protein Is Associated with Airway Infection, Neutrophil Extracellular Trap Formation, and Disease Severity in Bronchiectasis

scientific article published on 01 October 2019

Primary Cilia Mediate Diverse Kinase Inhibitor Resistance Mechanisms in Cancer.

scientific article

Primary Ciliary Dyskinesia Due to Microtubular Defects is Associated with Worse Lung Clearance Index

scientific article published on 24 January 2018

Primary ciliary dyskinesia in the genomics age

scientific article published on 14 October 2019

Primary ciliary dyskinesia with normal ultrastructure: three-dimensional tomography detects absence of DNAH11

scientific article published on 21 February 2018

Primary ciliary dyskinesia: evaluation using cilia beat frequency assessment via spectral analysis of digital microscopy images.

scientific article

Procalcitonin in stable and unstable patients with bronchiectasis

scientific article published on 01 January 2008

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

scientific article published on 5 March 2018

Proceedings of the 3rd BEAT-PCD Conference and 4th PCD Training School

scientific article published on 18 December 2018

Pseudomonas aeruginosa, cyanide accumulation and lung function in CF and non-CF bronchiectasis patients

scientific article published on 14 May 2008

Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry

scientific article

Response

Risk factors for situs defects and congenital heart disease in primary ciliary dyskinesia

scientific article published on 30 August 2018

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

scientific article published on 18 September 2017

Sperm defects in primary ciliary dyskinesia and related causes of male infertility

scientific article published on 28 November 2019

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

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 European Multicentre Bronchiectasis Audit and Research Collaboration (EMBARC) ERS Clinical Research Collaboration

scientific article published on 29 November 2018

The efficacy and safety of inhaled antibiotics for the treatment of bronchiectasis in adults: a systematic review and meta-analysis

scientific article published on 09 August 2019

Three dimensional ultrastructure of human respiratory cilia in health and disease

Time trends in diagnostic testing for primary ciliary dyskinesia in Europe

scientific article published on 24 October 2019

Topological data analysis reveals genotype–phenotype relationships in primary ciliary dyskinesia

scientific article published on 21 January 2021

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

scientific article published on December 2011

Validation of the Bronchiectasis Impact Measure (BIM) - a novel patient reported outcome measure

scientific article published on 19 November 2020

When to Think of Bronchiectasis and the Investigations to Perform

Why, when and how to investigate primary ciliary dyskinesia in adult patients with bronchiectasis

scientific article published on 09 August 2018

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

scientific article

ZMYND10 functions in a chaperone relay during axonemal dynein assembly.

scientific article published on 19 June 2018

List of works by Amelia Shoemark

A Hybrid Architecture (CO-CONNECT) to Facilitate Rapid Discovery and Access to Data Across the United Kingdom in Response to the COVID-19 Pandemic: Development Study

A longitudinal study characterising a large adult primary ciliary dyskinesia population

A point-of-care neutrophil elastase activity assay identifies bronchiectasis severity, airway infection and risk of exacerbation

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

Accuracy of Immunofluorescence in the Diagnosis of Primary Ciliary Dyskinesia

Aetiology in adult patients with bronchiectasis.

Airway Bacterial Load and Inhaled Antibiotic Response in Bronchiectasis

An extracellular matrix fragment drives epithelial remodeling and airway hyperresponsiveness.

Antimicrobial peptides, disease severity and exacerbations in bronchiectasis

Applications of emerging transmission electron microscopy technology in PCD research and diagnosis

Assessment of F/HN-pseudotyped lentivirus as a clinically relevant vector for lung gene therapy

BMI-1 extends proliferative potential of human bronchial epithelial cells while retaining their mucociliary differentiation capacity

Bardet Biedl syndrome: motile ciliary phenotype

Bronchial and peripheral airway nitric oxide in primary ciliary dyskinesia and bronchiectasis

C11orf70 Mutations Disrupting the Intraflagellar Transport-Dependent Assembly of Multiple Axonemal Dyneins Cause Primary Ciliary Dyskinesia

CXCL-8-dependent and -independent neutrophil activation in COPD: experiences from a pilot study of the CXCR2 antagonist danirixin

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

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

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

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

Cyanide levels found in infected cystic fibrosis sputum inhibit airway ciliary function

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

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

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

Electron tomography of respiratory cilia

Elevated peripheral airway nitric oxide in bronchiectasis reflects disease severity

European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia

Exhaled Breath Condensate pH as a Non-invasive Measure of Inflammation in Non-CF Bronchiectasis

Exploring the Art of Ciliary Beating: The Benefits of High-Speed Video Analysis

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

HEATR2 plays a conserved role in assembly of the ciliary motile apparatus ⬇️

Haemophilus influenzae biofilms in primary ciliary dyskinesia: a moving story

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

Impact of T2R38 Receptor Polymorphisms on Pseudomonas aeruginosa Infection in Cystic Fibrosis.

Impaired innate interferon induction in severe therapy resistant atopic asthmatic children

Increased nuclear suppressor of cytokine signaling 1 in asthmatic bronchial epithelium suppresses rhinovirus induction of innate interferons

Inhaled Aztreonam improves symptoms of cough and sputum production in patients with bronchiectasis: a post-hoc analysis of the AIR-BX studies

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

Lung Clearance Index (LCI) is Stable in Most Primary Ciliary Dyskinesia (PCD) Patients Managed in a Specialist Centre: a Pilot Study.

Models of Ciliary Dysfunction: Time to Expand

Motile cilia defects in diseases other than primary ciliary dyskinesia: The contemporary diagnostic and research role for transmission electron microscopy

Mutations in ARL2BP, encoding ADP-ribosylation-factor-like 2 binding protein, cause autosomal-recessive retinitis pigmentosa

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

Mutations in Outer Dynein Arm Heavy Chain DNAH9 Cause Motile Cilia Defects and Situs Inversus.

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

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

Phenotypic variability of CCDC103 mutation in British Pakistani children with Primary Ciliary Dyskinesia (PCD).

Pregnancy Zone Protein Is Associated with Airway Infection, Neutrophil Extracellular Trap Formation, and Disease Severity in Bronchiectasis

Primary Cilia Mediate Diverse Kinase Inhibitor Resistance Mechanisms in Cancer.

Primary Ciliary Dyskinesia Due to Microtubular Defects is Associated with Worse Lung Clearance Index

Primary ciliary dyskinesia in the genomics age

Primary ciliary dyskinesia with normal ultrastructure: three-dimensional tomography detects absence of DNAH11

Primary ciliary dyskinesia: evaluation using cilia beat frequency assessment via spectral analysis of digital microscopy images.

Procalcitonin in stable and unstable patients with bronchiectasis

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

Proceedings of the 3rd BEAT-PCD Conference and 4th PCD Training School

Pseudomonas aeruginosa, cyanide accumulation and lung function in CF and non-CF bronchiectasis patients

Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry

Response

Risk factors for situs defects and congenital heart disease in primary ciliary dyskinesia

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

Sperm defects in primary ciliary dyskinesia and related causes of male infertility

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

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

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.

The Controversies and Difficulties of Diagnosing Primary Ciliary Dyskinesia

The European Multicentre Bronchiectasis Audit and Research Collaboration (EMBARC) ERS Clinical Research Collaboration

The efficacy and safety of inhaled antibiotics for the treatment of bronchiectasis in adults: a systematic review and meta-analysis

Three dimensional ultrastructure of human respiratory cilia in health and disease

Time trends in diagnostic testing for primary ciliary dyskinesia in Europe

Topological data analysis reveals genotype–phenotype relationships in primary ciliary dyskinesia

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

Validation of the Bronchiectasis Impact Measure (BIM) - a novel patient reported outcome measure

When to Think of Bronchiectasis and the Investigations to Perform

Why, when and how to investigate primary ciliary dyskinesia in adult patients with bronchiectasis

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

ZMYND10 functions in a chaperone relay during axonemal dynein assembly.