Eddie K. Chung

UCL Great Ormond Street Institute Of Child Health
London, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 16 publications

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

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

Journal: Journal of medical genetics
Published: August 13, 2019

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

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

Journal: American journal of human genetics
Published: October 28, 2017

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

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

Journal: The European respiratory journal
Published: September 08, 2017

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

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

Journal: Thorax
Published: January 16, 2017

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

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

Journal: Nature communications
Published: July 20, 2016

A novel missense mutation in the transcription factor FOXF1 cosegregating with infantile hypertrophic pyloric stenosis in the extended pedigree linked to IHPS5 on chromosome 16q24.

A novel missense mutation in the transcription factor FOXF1 cosegregating with infantile hypertrophic pyloric stenosis in the extended pedigree linked to IHPS5 on chromosome 16q24.

Journal: Pediatric research
Published: June 13, 2016

CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation.

CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation.

Journal: American journal of human genetics
Published: May 23, 2014

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

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

Journal: Nature communications
Published: March 27, 2014

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.

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.

Journal: Human molecular genetics
Published: February 13, 2014

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

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

Journal: Journal of medical genetics
Published: November 09, 2013

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

Journal: American journal of human genetics
Published: March 28, 2013

Confirmation of two novel loci for infantile hypertrophic pyloric stenosis on chromosomes 3 and 5.

Confirmation of two novel loci for infantile hypertrophic pyloric stenosis on chromosomes 3 and 5.

Journal: Journal of human genetics
Published: February 22, 2013
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Last Updated: 09/26/2026