Associated Papers
Application of copy number variation sequencing combined with whole exome sequencing in prenatal left-right asymmetry disorders.
Qin Y et al.
Bmc Genomics, 2025
Analyses of 1236 genotyped primary ciliary dyskinesia individuals identify regional clusters of distinct DNA variants and significant genotype-phenotype correlations.
Raidt J et al.
The European Respiratory Journal, 2024
38871375 (PubMed )
Supplement: ERJ-01769-2023.Table_E2.xlsx › AlleleFrequenciesgnomAD_22.03.2
FOXJ1 Variants Causing Primary Ciliary Dyskinesia with Hydrocephalus: A Case Report from Japan.
Ito M et al.
Internal Medicine (tokyo, Japan), 2024
A novel heterozygous variant of FOXJ1 in a Chinese female with primary ciliary dyskinesia and hydrocephalus: A case report and literature review.
Gao S et al.
Molecular Genetics & Genomic Medicine, 2023
Novel dominant-negative FOXJ1 mutation in a family with heterotaxy plus mouse model.
Li L et al.
Translational Pediatrics, 2023
Congenital heart defects caused by FOXJ1.
Padua MB et al.
Human Molecular Genetics, 2023
Molecular defects in primary ciliary dyskinesia are associated with agenesis of the frontal and sphenoid paranasal sinuses and chronic rhinosinusitis.
Schramm A et al.
Frontiers in Molecular Biosciences, 2023
Limitations of Nasal Nitric Oxide Measurement for Diagnosis of Primary Ciliary Dyskinesia with Normal Ultrastructure.
Raidt J et al.
Annals of the American Thoracic Society, 2022
35202559 (PubMed )
Supplement: raidt_data_supplement.pdf
De Novo Mutations in FOXJ1 Result in a Motile Ciliopathy with Hydrocephalus and Randomization of Left/Right Body Asymmetry.
Wallmeier J et al.
American Journal of Human Genetics, 2019
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