ReviewAnnual review of genomics and human genetics2013
Translational genetics for diagnosis of human disorders of sex development.
Review in Annual review of genomics and human genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
What it found
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
26 citing papers in PubMed.
- Disorders of sex development: Genetic characterization of a patient cohort.Molecular medicine reports · 2020Trial
- The clinical diversity and molecular etiology in 46, XY disorders of sex development patients without uterus.Orphanet journal of rare diseases · 2025Article
- Cohort profile: pathways to care among people with disorders of sex development (DSD).BMJ open · 2022Article
- Transcriptional control of human gametogenesis.Human reproduction update · 2022Article
- Disorders of Sex Development in a Large Ukrainian Cohort: Clinical Diversity and Genetic Findings.Frontiers in endocrinology · 2022Article
- Repetitive DNA Sequences in the Human Y Chromosome and Male Infertility.Frontiers in cell and developmental biology · 2022Review
- Genetics of Azoospermia.International journal of molecular sciences · 2021Review
- Disorders/Differences of Sex Development Presenting in the Newborn With 46,XY Karyotype.Frontiers in pediatrics · 2021Review
- Applying Single-Cell Analysis to Gonadogenesis and DSDs (Disorders/Differences of Sex Development).International journal of molecular sciences · 2020Review
- Disorders of Sexual Development: Current Status and Progress in the Diagnostic Approach.Current urology · 2020Review
- [Progress on evaluation, diagnosis and management of disorders of sex development].Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences · 2019Review
- 46,XX Testicular Disorders of Sex Development WithFrontiers in genetics · 2019Article
- Broad Phenotypes of Disorders/Differences of Sex Development inFrontiers in genetics · 2019Article
- Genetics of Disorders of Sex Development: The DSD-TRN Experience.Endocrinology and metabolism clinics of North America · 2017Review
- Diagnostic Application of Targeted Next-Generation Sequencing of 80 Genes Associated with Disorders of Sexual Development.Scientific reports · 2017Article
- Case report of whole genome sequencing in the XY female: identification of a novel SRY mutation and revision of a misdiagnosis of androgen insensitivity syndrome.BMC endocrine disorders · 2016Article
- FGFR2 mutation in 46,XY sex reversal with craniosynostosis.Human molecular genetics · 2015Article
- Concepts and Updates in the Evaluation and Diagnosis of Common Disorders of Sexual Development.Current urology reports · 2015Review
- Disorders of sex development: effect of molecular diagnostics.Nature reviews. Endocrinology · 2015Review
- Genome-wide identification of CBX2 targets: insights in the human sex development network.Molecular endocrinology (Baltimore, Md.) · 2015Article
Corrections and comments
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Authors and funding
2 authors.
Funding
Abstract
Disorders of sex development (DSDs) are congenital conditions with discrepancies between the chromosomal, gonadal, and phenotypic sex of the individual. Such disorders have historically been difficult to diagnose and cause great stress to patients and their families. Genetic analysis of human samples has been instrumental in elucidating the molecules and pathways involved in the development of the bipotential gonad into a functioning testis or ovary. However, many DSD patients still do not receive a genetic diagnosis. New genetic and genomic technologies are expanding our knowledge of the underlying mechanism of DSDs and opening new avenues for clinical diagnosis. We review the genetic technologies that have elucidated the genes that are well established in sex determination in humans, discuss findings from more recent genomic technologies, and propose a new paradigm for clinical diagnosis of DSDs.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.