Implementation of multigene panel NGS diagnosis in the national primary ciliary dyskinesia cohort of Cyprus: An island with a high disease prevalence-Reference-Cited by-同舟云学术

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Implementation of multigene panel NGS diagnosis in the national primary ciliary dyskinesia cohort of Cyprus: An island with a high disease prevalence

Published:2021-03-25 Issue:6 Volume:42 Page:
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Yiallouros Panayiotis K.¹²^ORCID,Kouis Panayiotis¹^ORCID,Kyriacou Kyriacos³⁴^ORCID,Evriviadou Aigli¹,Anagnostopoulou Pinelopi¹²^ORCID,Matthaiou Andreas¹^ORCID,Tsiolakis Ioannis¹,Pirpa Panayiota³,Michailidou Kyriaki³^ORCID,Potamiti Louiza³^ORCID,Loizidou Maria A.³⁴^ORCID,Hadjisavvas Andreas³⁴^ORCID

Affiliation:

1. Respiratory Physiology Laboratory, Medical School University of Cyprus Nicosia Cyprus

2. Pediatric Pulmonology Unit Hospital “Archbishop Makarios III” Nicosia Cyprus

3. Department of Electron Microscopy/Molecular Pathology The Cyprus Institute of Neurology and Genetics Nicosia Cyprus

4. Cyprus School of Molecular Medicine The Cyprus Institute of Neurology and Genetics Nicosia Cyprus

Funder

FP7 Health

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24196

Reference51 articles.

1. Registries and collaborative studies for primary ciliary dyskinesia in Europe

2. Diagnosis of Primary Ciliary Dyskinesia by a Targeted Next-Generation Sequencing Panel

3. Biallelic Mutations in LRRC56, Encoding a Protein Associated with Intraflagellar Transport, Cause Mucociliary Clearance and Laterality Defects

4. Mutation of CFAP57, a protein required for the asymmetric targeting of a subset of inner dynein arms in Chlamydomonas, causes primary ciliary dyskinesia

5. Identification of genetic variants in CFAP221 as a cause of primary ciliary dyskinesia

Cited by 11 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. A novel homozygous mutation of CFAP300 identified in a Chinese patient with primary ciliary dyskinesia and infertility;Asian Journal of Andrology;2024-09-10

2. Characterization of pathogenic genetic variants in Russian patients with primary ciliary dyskinesia using gene panel sequencing and transcript analysis;Orphanet Journal of Rare Diseases;2024-08-23

3. Analyses of 1236 genotyped primary ciliary dyskinesia individuals identify regional clusters of distinct DNA variants and significant genotype–phenotype correlations;European Respiratory Journal;2024-06-13

4. Diagnosis of Primary Ciliary Dyskinesia via Whole Exome Sequencing and Histologic Findings;Yonsei Medical Journal;2024

5. Clinical and genetic analysis of two patients with primary ciliary dyskinesia caused by a novel variant of DNAAF2;BMC Pediatrics;2023-12-05

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