Associated Papers
Characterization of aberrant splicing in pediatric central nervous system tumors reveals CLK1 as a candidate oncogenic dependency.
Naqvi AS et al.
Biorxiv : the Preprint Server for Biology, 2025
39149264 (PubMed )
Supplement: media-5.xlsx › D_hugo_mutations
Clinical spectrum and molecular basis in 19 Chinese patients with 46, XY disorder of sexual development caused by NR5A1 mutations.
Xu Y et al.
Orphanet Journal of Rare Diseases, 2024
The genetic spectrum of a Chinese series of patients with 46, XY disorders of the sex development.
Zhang W et al.
Andrology, 2024
Case report: Rare heterozygous variant in the NR5A1 gene causing 46,XY complete gonadal dysgenesis with a non-communicating rudimentary uterus.
Sasaki T et al.
Frontiers in Medicine, 2024
A novel c.64G > T (p.G22C) NR5A1 variant in a Chinese adolescent with 46,XY disorders of sex development: a case report.
Zhang D et al.
Bmc Pediatrics, 2023
Landscape of pathogenic mutations in premature ovarian insufficiency.
Ke H et al.
Nature Medicine, 2023
36732629 (PubMed )
Supplement: 41591_2022_2194_MOESM2_ESM.xlsx › Supplementary_Table_9
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Stranneheim H et al.
Genome Medicine, 2021
33726816 (PubMed )
Supplement: 13073_2021_855_MOESM3_ESM.xlsx › Reported_genes_and_variants
Novel NR5A1 mutations found in Chinese patients with 46, XY disorders of sex development.
Yu B et al.
Clinical Endocrinology, 2018
Next-generation sequencing reveals genetic landscape in 46, XY disorders of sexual development patients with variable phenotypes.
Wang H et al.
Human Genetics, 2018
Prevalence of gene mutations in a Chinese 46,XY disorders of sex development cohort detected by targeted next-generation sequencing.
Yu BQ et al.
Asian Journal of Andrology, 0
Epididymis cell atlas in a patient with a sex development disorder and a novel NR5A1 gene mutation.
Shi JW et al.
Asian Journal of Andrology, 0
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