Evidence map›Paper›PMID 33067352›Full record

ArticleJournal of medical genetics2022

A germline 1;3 translocation disrupting the

Christopher J Ricketts, Cathy D Vocke, Martin Lang, Xiongfong Chen, Yongmei Zhao, Bao Tran, Mayank Tandon, Laura S Schmidt, Mark W Ball, W Marston Linehan

Open access · hybridAbstract readCase Reports
In one paragraph

Article in Journal of medical genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed
0.6field-weighted citation impact, top 38% of its field
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

8 citing papers in PubMed, 11 citations in OpenAlex.

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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

10 authors at 3 institutions in 1 country.

Christopher J RickettsUrologic Oncology Branch, National Cancer Institute, National Institutes of Health, Rockville, Maryland, USA.
Cathy D VockeUrologic Oncology Branch, National Cancer Institute, National Institutes of Health, Rockville, Maryland, USA.ORCID 0000-0002-9256-7607
Martin LangUrologic Oncology Branch, National Cancer Institue, Bethesda, Maryland, USA.
Xiongfong ChenCCR Sequencing Facility, Frederick National Laboratory for Cancer Research, Frederick, Maryland, USA.
Yongmei ZhaoCCR Sequencing Facility, Frederick National Laboratory for Cancer Research, Frederick, Maryland, USA.
Bao TranCCR Sequencing Facility, Frederick National Laboratory for Cancer Research, Frederick, Maryland, USA.
Mayank TandonCCR Collaborative Bioinformatics Resource, National Cancer Institute, Bethesda, Maryland, USA.
Laura S SchmidtUrologic Oncology Branch, National Cancer Institute, National Institutes of Health, Rockville, Maryland, USA.
Mark W BallUrologic Oncology Branch, National Cancer Institute, National Institutes of Health, Rockville, Maryland, USA.
W Marston LinehanUrologic Oncology Branch, National Cancer Institue, Bethesda, Maryland, USA WML@nih.gov.ORCID 0000-0001-7983-3109
National Institutes of Health · USFrederick National Laboratory for Cancer Research · USNational Cancer Institute · US

Funding

CCR Sequencing FacilityZICBC011331 · NCI · DIVISION OF BASIC SCIENCES - NCI · PI MALIK, MARIAM · 2010 to 2025
$68.2M
Molecular Therapeutics of Kidney Cancer: VHL Gene and Fumarate Hydratase GeneZIABC011038 · NCI · DIVISION OF BASIC SCIENCES - NCI · PI LINEHAN, WILLIAM MARSTON · 2009 to 2025
$29.8M
Molecular Therapeutics of Kidney Cancer: MET Gene and BHD GeneZIABC011043 · NCI · DIVISION OF BASIC SCIENCES - NCI · PI LINEHAN, WILLIAM MARSTON · 2009 to 2025
$20.9M
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
TUMOR SUPPRESSOR GENES IN GENITOURINARY MALIGNANCYZ01SC006659 · SC · CLINICAL SCIENCES · PI LINEHAN, WILLIAM MARSTON · 1996 to 2007
$4.0M
Molecular Therapeutics of Kidney Cancer: MET Gene and BHD GeneZ01BC011043 · NCI · DIVISION OF BASIC SCIENCES - NCI · PI LINEHAN, WILLIAM MARSTON · 2008 to 2008
$1.4M
Molecular Therapeutics of Kidney Cancer: VHL Gene and Fumarate Hydratase GeneZ01BC011038 · NCI · DIVISION OF BASIC SCIENCES - NCI · PI LINEHAN, WILLIAM MARSTON · 2008 to 2008
$1.4M
Clinical Studies of the Molecular Genetic Basis of Kidney CancerZ01BC011028 · NCI · DIVISION OF BASIC SCIENCES - NCI · PI LINEHAN, WILLIAM MARSTON · 2008 to 2008
$1.4M
Clinical Nursing and Data Management CoreZ01BC011089 · NCI · DIVISION OF BASIC SCIENCES - NCI · PI LINEHAN, WILLIAM MARSTON · 2008 to 2008
$855k
Clinical Tissue Procurement and Sequencing CoreZ01BC011044 · NCI · DIVISION OF BASIC SCIENCES - NCI · PI VOCKE, CATHY D · 2008 to 2008
$210k
CCR NIH HHS HHSN261200800001CIntramural NIH HHS Z01 BC011028Intramural NIH HHS Z01 BC011038Intramural NIH HHS Z01 BC011043Intramural NIH HHS Z01 BC011044Intramural NIH HHS Z01 BC011089Intramural NIH HHS Z01 SC006659Intramural NIH HHS Z99 CA999999Intramural NIH HHS ZIA BC011028Intramural NIH HHS ZIA BC011038Intramural NIH HHS ZIC BC011044NCI NIH HHS HHSN261200800001E
6 · The paper itself

Abstract

Von Hippel-Lindau (VHL) disease is an autosomal dominant hereditary tumour susceptibility disease caused by germline pathogenic variation of the

Indexed as

Germ-Line MutationTranslocation, GeneticCerebellar NeoplasmsDNA Mutational AnalysisExome SequencingHemangioblastomaHumansKidney NeoplasmsMalevon Hippel-Lindau DiseaseVon Hippel-Lindau Tumor Suppressor ProteinVHL protein, humanVon Hippel-Lindau Tumor Suppressor Proteinchromosome aberrationscytogenetic analysisgenetic testinghuman geneticsurology

Identifiers

PMID33067352
PMCPMC8080673
OpenAlexW3093198317

What OpenQuestion holds

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LicenceCC BY-NC
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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.