Evidence map›Paper›PMID 39113682›Full record

ArticleFrontiers in genetics2024

Perspectives from cystinosis: access to healthcare may be a confounding factor for variant classification.

Chen-Han Wilfred Wu, Alicja Tomaszewski, Louisa Stark, Fernando Scaglia, Ewa Elenberg, Fredrick R Schumaker

Abstract read
In one paragraph

Article in Frontiers in genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

6 authors.

Chen-Han Wilfred WuDepartment of Genetics and Genome Sciences, Case Western Reserve University School of Medicine and University Hospitals, Cleveland, OH, United States.
Alicja TomaszewskiDepartment of Genetics and Genome Sciences, Case Western Reserve University School of Medicine and University Hospitals, Cleveland, OH, United States.
Louisa StarkDepartment of Human Genetics, University of Utah School of Medicine, Salt Lake City, UT, United States.
Fernando ScagliaDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States.
Ewa ElenbergDepartment of Pediatrics, Baylor College of Medicine, Houston, TX, United States.
Fredrick R SchumakerDepartment of Population and Quantitative Health Sciences, Case Western Reserve University School of Medicine, Cleveland, OH, United States.

Funding

TRAINING GRANT IN GENETICST32GM007748 · NIGMS · HARVARD UNIVERSITY (MEDICAL SCHOOL) · PI Anne O'Donnell-Luria, Louise Wilkins-Haug · 1985 to 2026
$12.0M
A comprehensive approach to understanding the genetic causes of urinary stone disease: combining monogenic and polygenic analysesK08DK135933 · NIDDK · UNIVERSITY OF ALABAMA AT BIRMINGHAM · PI Chen-Han Wilfred Wu · 2024 to 2026
$486k
NIDDK NIH HHS K08 DK135933NIGMS NIH HHS T32 GM007748
6 · The paper itself

Abstract

Genetic variability persists across diverse populations, and it may impact the characterization of heritable diseases in different ancestral groups. Cystinosis is a metabolic disease caused by pathogenic variants in the

Indexed as

cystinosishealthcare disparitieshealth equitykidney stonepathogenicitypopulation genetics

Identifiers

PMID39113682
PMCPMC11303213

What OpenQuestion holds

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Registered trials

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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.