ArticleClinical genetics2013
Targeted massively parallel sequencing provides comprehensive genetic diagnosis for patients with disorders of sex development.
Article in Clinical genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 44 papers, 1 of them a synthesis that pooled it.
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Who cites it
44 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Genetic and genomic insights into male reproductive tract development.Fertility and sterility · 2025Pooled it
- Disorders of sex development: Genetic characterization of a patient cohort.Molecular medicine reports · 2020Trial
- The potential of deep learning on the discovery of new genes implicated in differences of sex development.Computational and structural biotechnology journal · 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
- STARD9 and CDK5RAP2-Novel Candidate Genes for 46,XY Complete Gonadal Dysgenesis.International journal of molecular sciences · 2025Article
- Review
- Worldwide cohort study of 46, XY differences/disorders of sex development genetic diagnoses: geographic and ethnic differences in variants.Frontiers in genetics · 2024Review
- Digenic Origin of Difference of Sex Development in a Patient Harbouring DHX37 and MAMLD1 Variants.Case reports in pediatrics · 2024Article
- Phenotype and genetic characteristics in 20 Chinese patients with 46,XY disorders of sex development.Journal of endocrinological investigation · 2023Article
- Cytogenomic Investigation of Syndromic Brazilian Patients with Differences of Sexual Development.Diagnostics (Basel, Switzerland) · 2023Article
- Lessons Learned from 17 Years of Multidisciplinary Care for Differences of Sex Development Patients at a Single Indonesian Center.Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation · 2023Article
- Cohort profile: pathways to care among people with disorders of sex development (DSD).BMJ open · 2022Article
- Targeted massively parallel sequencing panel to diagnose genetic endocrine disorders in a tertiary hospital.Clinics (Sao Paulo, Brazil) · 2022Article
- Novel Genomic Variants, Atypical Phenotypes and Evidence of a Digenic/Oligogenic Contribution to Disorders/Differences of Sex Development in a Large North African Cohort.Frontiers in genetics · 2022Article
- Towards improved genetic diagnosis of human differences of sex development.Nature reviews. Genetics · 2021Review
- Under-reported aspects of diagnosis and treatment addressed in the Dutch-Flemish guideline for comprehensive diagnostics in disorders/differences of sex development.Journal of medical genetics · 2020Review
- Disorders of Sexual Development: Current Status and Progress in the Diagnostic Approach.Current urology · 2020Review
- Next generation sequencing (NGS) to improve the diagnosis and management of patients with disorders of sex development (DSD).Endocrine connections · 2019Article
- Integrating clinical and genetic approaches in the diagnosis of 46,XY disorders of sex development.Endocrine connections · 2018Article
- Genetics of Disorders of Sex Development: The DSD-TRN Experience.Endocrinology and metabolism clinics of North America · 2017Review
Corrections and comments
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Authors and funding
8 authors.
Funding
Abstract
Disorders of sex development (DSD) are rare disorders in which there is discordance between chromosomal, gonadal, and phenotypic sex. Only a minority of patients clinically diagnosed with DSD obtains a molecular diagnosis, leaving a large gap in our understanding of the prevalence, management, and outcomes in affected patients. We created a novel DSD-genetic diagnostic tool, in which sex development genes are captured using RNA probes and undergo massively parallel sequencing. In the pilot group of 14 patients, we determined sex chromosome dosage, copy number variation, and gene mutations. In the patients with a known genetic diagnosis (obtained either on a clinical or research basis), this test identified the molecular cause in 100% (7/7) of patients. In patients in whom no molecular diagnosis had been made, this tool identified a genetic diagnosis in two of seven patients. Targeted sequencing of genes representing a specific spectrum of disorders can result in a higher rate of genetic diagnoses than current diagnostic approaches. Our DSD diagnostic tool provides for first time, in a single blood test, a comprehensive genetic diagnosis in patients presenting with a wide range of urogenital anomalies.
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