X-Linked Candidate Genes for a Ciliopathy-Like Disorder.

Ashleigh R Pavey, Thierry Vilboux, Holly E Babcock, Margot Ahronovich, Benjamin D Solomon

Open access · bronzeAbstract read

In one paragraph

Article in Molecular syndromology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it

0cells of the map it votes in

2citing papers in PubMed

–field-weighted citation impact, top 99% 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

2 citing papers in PubMed, 2 citations in OpenAlex.

WDR44 Loss-of-Function Promoter Deletion in a Male Newborn With a Ciliopathy Phenotype.American journal of medical genetics. Part A · 2025
Article
Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation.Nature communications · 2024
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

5 authors at 3 institutions in 1 country.

Ashleigh R PaveyDepartment of Pediatrics, Walter Reed National Military Medical Center, Washington, D.C., USA; Department of Pediatrics, Uniformed Services University of Health Sciences, Bethesda, Md., Washington, D.C., USA; Division of Medical Genomics, Inova Translational Medicine Institute, Washington, D.C., USA.

Thierry VilbouxDivision of Medical Genomics, Inova Translational Medicine Institute, Washington, D.C., USA.

Holly E BabcockDepartment of Pediatrics, Children's National Medical Center, Washington, D.C., USA; Division of Genetics and Metabolism, Children's National Medical Center, Washington, D.C., USA.

Margot AhronovichFairfax Neonatal Associates, Inova Children's Hospital, Inova Health System, Falls Church, Va., Washington, D.C., USA.

Benjamin D SolomonDivision of Medical Genomics, Inova Translational Medicine Institute, Washington, D.C., USA; Department of Pediatrics, Children's National Medical Center, Washington, D.C., USA; Department of Pediatrics, Virginia Commonwealth University School of Medicine, Richmond, Va., Washington, D.C., USA.

Inova Health System · USVirginia Commonwealth University · USWalter Reed National Military Medical Center · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The ability to interrogate the genome via chromosomal microarray and sequencing-based technologies has accelerated the ability to rapidly and accurately define etiologies as well as new candidate genes related to genetic conditions. We describe a male patient with a lethal presentation of a multiple congenital anomaly syndrome that appeared consistent with a ciliopathy phenotype. The patient was found to have a novel maternally inherited 1.9-Mb X chromosome deletion including 4 known genes. Presently, the biological functions of these genes are not well delineated. However, at least one of these genes may be a promising candidate gene for this pattern of anomalies based on the function of related genes and information from publicly available copy number variant databases of control and affected individuals. These genes would bear further scrutiny in larger cohorts of patients with similar phenotypes.

Indexed as

Chromosomal microarrayCiliopathyDeletionMultiple congenital anomaliesX-linked inheritance

Identifiers

PMID27194972

DOI10.1159/000444666

PMCPMC4862391

OpenAlexW2301728074

What OpenQuestion holds

Textmetadata

Read underepoch 390

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.