ArticleScientific reports2017
Diagnostic Application of Targeted Next-Generation Sequencing of 80 Genes Associated with Disorders of Sexual Development.
Article in Scientific reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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Who cites it
25 citing papers in PubMed.
- Article
- Disorders of sex development associated with MPI and RSPH1 variants expand the phenotypic spectrum of CDG and PCD in Morocco.Molecular biology reports · 2026Article
- Molecular Diagnosis of 46,XY Disorders of Sex Development: An Efficient Initial Molecular Analysis Using a Custom-Designed Targeted Gene Panel in a Single-Center Study.Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation · 2026Article
- The potential of deep learning on the discovery of new genes implicated in differences of sex development.Computational and structural biotechnology journal · 2026Article
- Clinical, Hormonal, and Genetic Spectrum of 46 XY Disorders of Sexual Development (DSD) Patients.Indian journal of pediatrics · 2025Article
- Differences of Sex Development: A Study of 420 Patients from a Single Tertiary Pediatric Endocrinology Center.Children (Basel, Switzerland) · 2025Article
- Diminished DNA binding affinity of DMRT1 caused by heterozygous DM domain mutations is a cause of male infertility.Human molecular genetics · 2025Article
- Identification of a Rare Variant in theCase reports in genetics · 2025Article
- Identification and functional analysis of a rare variant of gene DHX37 in a patient with 46,XY disorders of sex development.Molecular genetics & genomic medicine · 2024Article
- In Tandem Intragenic Duplication of Doublesex and Mab-3-Related Transcription Factor 1 (Genes · 2023Article
- Gonadotropin-Releasing Hormone Receptor (GnRHR) and Hypogonadotropic Hypogonadism.International journal of molecular sciences · 2023Review
- Genomics of sexual cell fate transdifferentiation in the mouse gonad.G3 (Bethesda, Md.) · 2022Article
- Clinical, hormonal, and genetic characteristics of 25 Chinese patients with idiopathic hypogonadotropic hypogonadism.BMC endocrine disorders · 2022Article
- Disorders of Sex Development in a Large Ukrainian Cohort: Clinical Diversity and Genetic Findings.Frontiers in endocrinology · 2022Article
- Targeted massively parallel sequencing panel to diagnose genetic endocrine disorders in a tertiary hospital.Clinics (Sao Paulo, Brazil) · 2022Article
- A NovelBiology · 2021Article
- Molecular and Cytogenetic Analysis of Romanian Patients with Differences in Sex Development.Diagnostics (Basel, Switzerland) · 2021Article
- Temporal transcriptomic landscape of postnatal mouse ovaries reveals dynamic gene signatures associated with ovarian aging.Human molecular genetics · 2021Article
- Towards improved genetic diagnosis of human differences of sex development.Nature reviews. Genetics · 2021Review
- Patients with disorders of sex development.Annals of pediatric endocrinology & metabolism · 2021Article
Corrections and comments
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Authors and funding
15 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Disorders of sexual development (DSD) are estimated to occur in 1 of 4500 births. Since the genetic etiology of DSD is highly heterogeneous, obtaining a definitive molecular diagnosis by single gene test is challenging. Utilizing a high-throughput sequencing upfront is proposed as an efficient approach to aid in the diagnosis. This study aimed to examine the diagnostic yield of next-generation sequencing in DSD. 32 DSD patients that previously received clinical examinations and single gene tests were selected, with or without a diagnosis. Prior single gene tests were masked, and then samples went through targeted next-generation sequencing of 80 genes from which the diagnostic yield was assessed. A likely diagnosis, with pathogenic or likely pathogenic variants identified, was obtained from nine of the 32 patients (i.e., 28.1%, versus 10% by single gene tests). In another five patients (15.6%), variants of uncertain significance were found. Among 18 variants identified (i.e., 17 single nucleotide variants and one small deletion), eight had not been previously reported. This study supports the notion that next-generation sequencing can be an efficient tool in the clinical diagnosis and variant discovery in DSD.
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