ReviewClinical genetics2026
Biochemical Testing Promotes Interpretation of Variants of Uncertain Significance in Prenatal Genetic Disease Testing in Four Organic Acidurias.
Review in Clinical genetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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
1 citing paper in PubMed.
Corrections and comments
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Authors and funding
2 authors.
Funding
Abstract
Advances in next-generation sequencing (NGS) have revolutionized clinical and translational medicine. NGS is increasingly used in the diagnosis of genetic diseases, including newborn screening, prenatal screening and diagnosis, and preimplantation screening. While advancements in sequencing and bioinformatics have facilitated the discovery of novel genes and diseases, the identification of variants continues to outpace our ability to classify them accurately. Variants of uncertain significance (VUS), defined as genetic alterations with insufficient evidence for clinical interpretation, present significant diagnostic challenges. Clinically available functional studies, such as biochemical testing, offer valuable insights for interpreting VUS. This review synthesizes recent literature on amniotic fluid metabolite analysis for prenatal diagnosis and VUS interpretation in four organic acidurias. It aims to guide the application of biochemical testing for inherited metabolic disorders and enhance clinical decision-making regarding VUS classification.
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Registered trials
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