Diagnostic yield of a targeted gene panel in primary ciliary dyskinesia patients

Author:

Paff Tamara123,Kooi Irsan E.3,Moutaouakil Youssef3,Riesebos Elise3,Sistermans Erik A.3,Daniels Hans J. M. A.1,Weiss Janneke M. M.3,Niessen Hans H. W. M.4,Haarman Eric G.2,Pals Gerard3,Micha Dimitra3ORCID

Affiliation:

1. Department of Pulmonary Diseases; VU University Medical Center; Amsterdam The Netherlands

2. Department of Pediatric Pulmonology; VU University Medical Center; Amsterdam The Netherlands

3. Department of Clinical Genetics; VU University Medical Center; Amsterdam Movement Sciences; Amsterdam The Netherlands

4. Department of Pathology and Cardiac Surgery; VU University Medical Center; Amsterdam The Netherlands

Funder

E. Mulder and his “Dutch tough mudder team”

Fonds NutsOhra

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference48 articles.

1. Systematic analysis of CCNO variants in a defined population: Implications for clinical phenotype and differential diagnosis;Amirav;Human Mutation,2016

2. HTSeq-A Python framework to work with high-throughput sequencing data;Anders;Bioinformatics,2015

3. Andrews , S. 2010 FastQC: A quality control tool for high throughput sequence data www.bioinformatics.babraham.ac.uk/projects/fastqc

4. Remodeling Cildb, a popular database for cilia and links for ciliopathies;Arnaiz;Cilia,2014

5. Primary ciliary dyskinesia: A consensus statement on diagnostic and treatment approaches in children;Barbato;European Respiratory Journal,2009

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