ArticleFrontiers in genetics2025
Precision genomic profiling in Gaucher disease: insights from atypical presentations.
Article in Frontiers in genetics, 2025. 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
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
1 citing paper in PubMed.
- Cumulative Antigen Suppression Reduces Clonal Plasma Cell Evolution in Gaucher Disease.American journal of hematology · 2026Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background: Gaucher disease (GD) is characterized by significant phenotypic heterogeneity, even among patients with identical Methods: This study leveraged a well-characterized, longitudinally followed cohort of GD patients from a major tertiary care center, integrating whole-exome sequencing (WES) with detailed clinical information. We applied a precision medicine framework centered on four components-clinical reasoning, deep phenotyping, genomic integration, and individualized therapy-to a subset of patients (n = 17) who presented with complex phenotypes deviating from the classical GD presentation and/or were Results: Of 275 patients, 17 (6.2%) presented with atypical phenotypes not fully explained by GD. WES revealed additional genetic diagnoses, including hereditary hemochromatosis-associated variants (n = 5), familial Mediterranean fever (n = 4), homozygous Conclusion: The presence of concurrent genetic disorders in a subset of GD patients has the potential to modify clinical presentation, impact disease trajectory, and introduce additional complexities in clinical management. This study contributes to advancing precision medicine strategies that aim to optimize patient outcomes. Future research into genetic and epigenetic modifiers of GD will further refine this framework and enhance individualized therapeutic approaches.
Indexed as
Identifiers
What OpenQuestion holds
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.