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
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
Genome sequencing reveals underdiagnosis of primary ciliary dyskinesia in bronchiectasis.
Shoemark A et al.
The European Respiratory Journal, 2022
Autosomal dominant variants in FOXJ1 causing primary ciliary dyskinesia in two patients with obstructive hydrocephalus.
Shapiro AJ et al.
Molecular Genetics & Genomic Medicine, 2021
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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