Evidence map›Paper›PMID 35456481›Full record

ArticleGenes2022

Predominant Founder Effect among Recurrent Pathogenic Variants for an X-Linked Disorder.

Chelsea Bender, Elizabeth Geena Woo, Bin Guan, Ehsan Ullah, Eric Feng, Amy Turriff, Santa J Tumminia, Paul A Sieving, Catherine A Cukras, Robert B Hufnagel

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Genes, 2022. 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
0.3field-weighted citation impact, top 46% 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

1 citing paper in PubMed, 4 citations in OpenAlex.

  1. 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

10 authors at 1 institution in 1 country.

Chelsea BenderNational Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA.
Elizabeth Geena WooNational Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA.ORCID 0000-0002-8462-718X
Bin GuanNational Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA.
Ehsan UllahNational Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA.ORCID 0000-0003-0107-6608
Eric FengNational Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA.
Amy TurriffNational Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA.
Santa J TumminiaNational Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA.
Paul A SievingNational Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA.ORCID 0000-0002-2918-577X
Catherine A CukrasNational Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA.
Robert B HufnagelNational Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA.ORCID 0000-0003-3015-3545
National Institutes of Health · US

Funding

National Ophthalmic Disease Genotyping and Phenotyping Network - eyeGENEZICEY000478 · NEI · NATIONAL EYE INSTITUTE · PI GOETZ, KERRY · 2009 to 2025
$14.8M
Genomic and epigenomic mechanisms of pediatric ocular disordersZIAEY000565 · NEI · NATIONAL EYE INSTITUTE · PI HUFNAGEL, ROBERT · 2019 to 2024
$11.4M
Clinical ophthalmic molecular diagnostics and discoveryZIAEY000564 · NEI · NATIONAL EYE INSTITUTE · PI GUAN, BIN · 2019 to 2025
$7.9M
Intramural NIH HHS ZIA EY000564Intramural NIH HHS ZIA EY000565Intramural NIH HHS ZIC EY000478
6 · The paper itself

Abstract

For disorders with X-linked inheritance, variants may be transmitted through multiple generations of carrier females before an affected male is ascertained. Pathogenic

Indexed as

Genes, X-LinkedRetinoschisisEye ProteinsFemaleFounder EffectHumansMaleMutationEye ProteinsACMG/AMP variant interpretation guidelinefounder effecthaplotype analysisRS1variant classificationX-linked disorderX-linked retinoschisis (XLRS)

Identifiers

PMID35456481
PMCPMC9029724
OpenAlexW4223444455

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.