Evidence map›Paper›PMID 39291188›Full record

ArticleKidney international reports2024

Prevalence of Mendelian Kidney Disease Among Patients With High-Risk

Ronaldo da Silva Francisco, Sumit Punj, Lisa Vincent, Nina Sanapareddy, Vivek Bhalla, Glenn M Chertow, Dianne Keen-Kim, Vivek Charu

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Kidney international reports, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. Review
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

8 authors.

Ronaldo da Silva FranciscoDepartment of Pathology, Stanford University School of Medicine, Stanford, California, USA.
Sumit PunjNatera, Inc. 201 Industrial Boulevard, San Carlos, California, USA.
Lisa VincentNatera, Inc. 201 Industrial Boulevard, San Carlos, California, USA.
Nina SanapareddyNatera, Inc. 201 Industrial Boulevard, San Carlos, California, USA.
Vivek BhallaDivision of Nephrology, Department of Medicine, Stanford University School of Medicine, Stanford, California, USA.
Glenn M ChertowDivision of Nephrology, Department of Medicine, Stanford University School of Medicine, Stanford, California, USA.
Dianne Keen-KimDepartment of Pathology, Stanford University School of Medicine, Stanford, California, USA.
Vivek CharuDepartment of Pathology, Stanford University School of Medicine, Stanford, California, USA.

Funding

Institutional Career Development Core (KL2)KL2TR003143 · NCATS · STANFORD UNIVERSITY · PI ASCH, STEVEN M. · 2019 to 2023
$8.7M
NCATS NIH HHS KL2 TR003143
6 · The paper itself

Abstract

Introduction: Among individuals with high-risk Methods: We analyzed clinical exome sequencing data from 15,181 individuals undergoing commercial genetic testing for Mendelian kidney disease in the United States from 2020 to 2021. We identified patients with high-risk Results: Of 15,181 patients, 3119 had genetic testing results consistent with a molecular diagnosis of Mendelian kidney disease (20.5%). Of 15,181 patients, 1035 (6.8%) had high-risk Conclusion: In this selected population of patients undergoing clinical genetic testing, we found evidence of Mendelian kidney disease in ∼10% patients with high-risk

Indexed as

African ancestryAPOL1COL4A4mendelian kidney diseasePKD1

Identifiers

PMID39291188
PMCPMC11403072

What OpenQuestion holds

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LicenceCC BY-NC-ND
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Registered trials

None linked

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.