ArticleFrontiers in genetics2021
Whole Exome Sequencing Aids the Diagnosis of Fetal Skeletal Dysplasia.
Article in Frontiers in genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 4 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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
14 citing papers in PubMed, 4 syntheses or guidelines pooled it, 19 citations in OpenAlex.
- Incremental yield of prenatal exome sequencing in fetuses with skeletal system abnormalities: A systematic review and meta-analysis.Acta obstetricia et gynecologica Scandinavica · 2025Pooled it
- Exome sequencing and prenatal skeletal abnormalities: comprehensive review and meta-analysis and way forward.Frontiers in genetics · 2025Pooled it
- Pooled it
- Diagnostic yield of exome sequencing for prenatal diagnosis of fetal structural anomalies: A systematic review and meta-analysis.Prenatal diagnosis · 2022Pooled it
- Genetic analysis of fetal skeletal dysplasia via whole exome sequencing and non-invasive prenatal diagnosis.Annals of medicine · 2026Article
- Stratified obstetric management for heterogeneous rare diseases: a precision medicine framework based on four genetic archetypes.Frontiers in medicine · 2026Review
- Sequential prenatal diagnosis of fetal skeletal dysplasia: A cohort study.Acta obstetricia et gynecologica Scandinavica · 2025Article
- The genotypic and family characteristics and clinical intervention of neurofibromatosis type 1 gene are associated with dystrophic scoliosis by whole-exome sequencing.Frontiers in neurology · 2025Article
- Genetic testing and diagnostic strategies of fetal skeletal dysplasia: a preliminary study in Wuhan, China.Orphanet journal of rare diseases · 2023Article
- Exome sequencing in fetuses with short long bones detected by ultrasonography: A retrospective cohort study.Frontiers in genetics · 2023Article
- Genetic spectrum of prenatally diagnosed skeletal dysplasias in a Finnish patient cohort.Prenatal diagnosis · 2022Article
- Article
- Molecular Approaches in Fetal Malformations, Dynamic Anomalies and Soft Markers: Diagnostic Rates and Challenges-Systematic Review of the Literature and Meta-Analysis.Diagnostics (Basel, Switzerland) · 2022Review
- Whole Exome Sequencing Aids the Diagnosis of Fetal Skeletal Dysplasia.Frontiers in genetics · 2021Article
Corrections and comments
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Authors and funding
6 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Skeletal dysplasia is a complex group of bone and cartilage disorders with strong clinical and genetic heterogeneity. Several types have prenatal phenotypes, and it is difficult to make a molecular diagnosis rapidly. In this study, the genetic cause of 16 Chinese fetuses with skeletal dysplasia were analyzed, and 12 cases yielded positive results including one deletion in
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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.