Whole-exome sequencing accuracy in the diagnosis of primary ciliary dyskinesia

Alex Gileles-Hillel, Hagar Mor-Shaked, David Shoseyov, Joel Reiter, Reuven Tsabari, Avigdor Hevroni, Malena Cohen-Cymberknoh, Israel Amirav, Shuli Brammli-Greenberg, Amjad Horani, Eitan Kerem, Oded Breuer

Source: ERJ Open Res, 6 (4) 00213-2020; 10.1183/23120541.00213-2020
Journal Issue: October
Disease area: Paediatric lung diseases

Congress or journal article abstractFull text journal articlePDF journal article, handout or slides

Rating: 0
You must login to grade this presentation.

Share or cite this content

Citations should be made in the following way:
Alex Gileles-Hillel, Hagar Mor-Shaked, David Shoseyov, Joel Reiter, Reuven Tsabari, Avigdor Hevroni, Malena Cohen-Cymberknoh, Israel Amirav, Shuli Brammli-Greenberg, Amjad Horani, Eitan Kerem, Oded Breuer. Whole-exome sequencing accuracy in the diagnosis of primary ciliary dyskinesia. ERJ Open Res, 6 (4) 00213-2020; 10.1183/23120541.00213-2020

You must login to share this Presentation/Article on Twitter, Facebook, LinkedIn or by email.

Member's Comments

No comment yet.
You must Login to comment this presentation.


Related content which might interest you:
Accuracy of diagnostic testing in primary ciliary dyskinesia
Source: Eur Respir J 2016; 47: 837-848
Year: 2016



Diagnosing primary ciliary dyskinesia (PCD) using electron microscopy and exome sequencing
Source: International Congress 2017 – Respiratory epidemiology: from sarcoidosis to respiratory infections and tuberculosis
Year: 2017

Implementation of a gene panel for the genetic diagnosis of primary ciliary dyskinesia
Source: Virtual Congress 2020 – Tip the hat to paediatric bronchology
Year: 2020




Comparison of diagnostic tools for primary ciliary dyskinesia
Source: Annual Congress 2005 - New insights in respiratory infections in children
Year: 2005


Mutational screening in Italian patients with primary ciliary dyskinesia by next-generation sequencing (NGS)
Source: International Congress 2016 – Highlights in primary ciliary dyskinesia and asthma in childhood
Year: 2016

PICADAR: a diagnostic predictive tool for primary ciliary dyskinesia
Source: Eur Respir J 2016; 47: 1103-1112
Year: 2016



Genetic mosaicism can delay the diagnosis of primary ciliary dyskinesia
Source: Eur Respir J 2005; 26: Suppl. 49, 629s
Year: 2005

Accuracy of diagnostic testing in primary ciliary dyskinesia: are we there yet?
Source: Eur Respir J 2016; 47: 699-701
Year: 2016


Is the sensitivity of primary ciliary dyskinesia detection by ciliary function analysis 100%?
Source: Eur Respir J 2013; 42: 1159-1161
Year: 2013


Is the sensitivity of primary ciliary dyskinesia detection by ciliary function analysis 100%?
Source: Eur Respir J 2013; 42: 1161
Year: 2013


Diagnostic testing in primary ciliary dyskinesia
Source: Eur Respir J 2016; 48: 960-961
Year: 2016


Diagnostic testing in primary ciliary dyskinesia
Source: Eur Respir J 2016; 48: 959-960
Year: 2016


Diagnostic algorithm for primary ciliary dyskinesia (PCD)
Source: Eur Respir J 2005; 26: Suppl. 49, 628s
Year: 2005

Assessment of primary ciliary dyskinesia predictive tools
Source: Eur Respir J, 56 (6) 2001169; 10.1183/13993003.01169-2020
Year: 2020



A high prevalence CCDC103 p.His154Pro mutation causing primary ciliary dyskinesia is associated with normal diagnostic investigations
Source: International Congress 2017 – Primary ciliary dyskinesia and air pollution
Year: 2017

Problems of making and confirming the diagnosis of primary ciliary dyskinesia (PCD) in children still exist
Source: Annual Congress 2010 - Bronchoscopy and rare diseases in children
Year: 2010

Impact of the date of diagnosis on the clinical course of children with primary ciliary dyskinesia
Source: Annual Congress 2011 - Rare lung diseases in children
Year: 2011


A rare genetic mutation in primary ciliary dyskinesia
Source: International Congress 2017 – Rare and common genetic variants of common and rare airway diseases
Year: 2017


Differentiation of primary and secondary ciliary dyskinesia with the quantitative analysis of ciliary elements
Source: Eur Respir J 2001; 18: Suppl. 33, 191s
Year: 2001