Evidence map›Paper›PMID 39317422›Full record

ArticleJournal of medical genetics2024

A novel pathogenic germline chromosome 3 inversion in von Hippel-Lindau disease.

Cathy D Vocke, Christopher J Ricketts, Svetlana Pack, Mark Raffeld, Stephen Hewitt, Alexandra P Lebensohn, Lidenys O'Brien, Rabindra Gautam, Krista Reynolds, Laura S Schmidt and 9 more

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of medical genetics, 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. Journal of medical genetics · 2026
    Article
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

19 authors.

Cathy D VockeUrologic Oncology Branch, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA.ORCID 0000-0002-9256-7607
Christopher J RickettsUrologic Oncology Branch, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA.
Svetlana PackLaboratory of Pathology, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA.
Mark RaffeldLaboratory of Pathology, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA.
Stephen HewittLaboratory of Pathology, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA.
Alexandra P LebensohnCancer Genetic Branch, National Institutes of Health, Bethesda, Maryland, USA.
Lidenys O'BrienUrologic Oncology Branch, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA.
Rabindra GautamUrologic Oncology Branch, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA.
Krista ReynoldsUrologic Oncology Branch, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA.
Laura S SchmidtUrologic Oncology Branch, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA.
Kristin ChooUrologic Oncology Branch, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA.
Alex KenigsbergUrologic Oncology Branch, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA.
Sandeep GurramUrologic Oncology Branch, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA.
Emily Y ChewDivision of Epidemiology and Clinical Applications, National Eye Institute, National Institutes of Health, Bethesda, Maryland, USA.
Naris NilubolSurgical Oncology Program, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA.
Prashant ChittaboinaNeurosurgery Unit for Pituitary and Inheritable Diseases, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.
Maria J MerinoLaboratory of Pathology, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA.
Mark W BallUrologic Oncology Branch, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA.
W Marston LinehanUrologic Oncology Branch, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA WML@nih.gov.ORCID 0000-0001-7983-3109

Funding

Clinical Studies of the Molecular Genetic Basis of Kidney CancerZIABC011028 · NCI · DIVISION OF BASIC SCIENCES - NCI · PI LINEHAN, WILLIAM MARSTON · 2009 to 2025
$17.9M
Clinical Nursing and Data Management CoreZIDBC011089 · NCI · DIVISION OF BASIC SCIENCES - NCI · PI LINEHAN, WILLIAM MARSTON · 2009 to 2025
$17.4M
Tissue ProcessingSequencing FacilityZICBC011044 · NCI · DIVISION OF BASIC SCIENCES - NCI · PI VOCKE, CATHY D · 2009 to 2025
$13.5M
Intramural NIH HHS ZIA BC011028Intramural NIH HHS ZIC BC011044Intramural NIH HHS ZID BC011089NCI NIH HHS HHSN261201500003CNCI NIH HHS HHSN261201500003I
6 · The paper itself

Abstract

von Hippel-Lindau (VHL) is an autosomal-dominant hereditary tumour susceptibility disease associated with pathogenic germline variants in the

Indexed as

Chromosome InversionChromosomes, Human, Pair 3Germ-Line MutationPedigreevon Hippel-Lindau DiseaseVon Hippel-Lindau Tumor Suppressor ProteinAdultFemaleGenetic Predisposition to DiseaseHumansMaleMiddle AgedVHL protein, humanVon Hippel-Lindau Tumor Suppressor ProteinChromosome AberrationsGene RearrangementGenetic Diseases, InbornHuman GeneticsUrology

Identifiers

PMID39317422
PMCPMC11503160

What OpenQuestion holds

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LicenceCC BY-NC
Read underepoch 390

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.