List of works - Hannah M Mitchison

Accuracy of Immunofluorescence in the Diagnosis of Primary Ciliary Dyskinesia

scientific article published on 15 February 2017

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

scientific article published on 25 April 2024

Clinical and genetic spectrum in 33 Egyptian families with suspected primary ciliary dyskinesia

scientific article published on 05 December 2019

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

Diagnosis and management of primary ciliary dyskinesia

scientific article

Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement

scientific article (publication date: May 2013)

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

scientific article

Mutations in CCDC39 and CCDC40 are a major cause of primary ciliary dyskinesia with microtubule disorganisation

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

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

scientific article published on 13 July 2015

Primary ciliary dyskinesia: current state of the art.

scientific article

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

scientific article published on 30 August 2018

Splice-site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause 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 more we know, the more we have to discover: an exciting future for understanding cilia and ciliopathies

scientific article

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

scientific article

List of works by Hannah M Mitchison

Accuracy of Immunofluorescence in the Diagnosis of Primary Ciliary Dyskinesia

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

Clinical and genetic spectrum in 33 Egyptian families with suspected primary ciliary dyskinesia

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.

Diagnosis and management of primary ciliary dyskinesia

Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement

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

Mutations in CCDC39 and CCDC40 are a major cause of primary ciliary dyskinesia with microtubule disorganisation

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

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).

Primary ciliary dyskinesia: current state of the art.

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

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

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 more we know, the more we have to discover: an exciting future for understanding cilia and ciliopathies

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