Evidence map›Paper›PMID 35327965›Full record

SynthesisGenes2022

Variable Anterior Segment Dysgenesis and Cardiac Anomalies Caused by a Novel Truncating Variant of FOXC1.

Mariya R Ahmed, Saumil Sethna, Laura A Krueger, Michael B Yang, Robert B Hufnagel

Abstract readMeta-Analysis
PubMed Full text at PMC Publisher
In one paragraph

Synthesis in Genes, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing 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

3 citing papers in PubMed.

  1. Article
  2. Review
  3. 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.

Mariya R AhmedMedical Genetics and Ophthalmic Genomics Unit, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA.
Saumil SethnaDepartment of Otorhinolaryngology-Head & Neck Surgery, University of Maryland School of Medicine, Baltimore, MD 21201, USA.
Laura A KruegerDepartment of Ophthalmology, Division of Pediatric Ophthalmology, Abrahamson Pediatric Eye Institute, University of Cincinnati College of Medicine, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.
Michael B YangDepartment of Ophthalmology, Division of Pediatric Ophthalmology, Abrahamson Pediatric Eye Institute, University of Cincinnati College of Medicine, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.
Robert B HufnagelMedical Genetics and Ophthalmic Genomics Unit, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA.ORCID 0000-0003-3015-3545

Funding

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 EY000565
6 · The paper itself

Abstract

Anterior segment dysgenesis (ASD) encompasses a wide spectrum of developmental abnormalities of the anterior ocular segment, including congenital cataract, iris hypoplasia, aniridia, iridocorneal synechiae, as well as Peters, Axenfeld, and Rieger anomalies. Here, we report a large five-generation Caucasian family exhibiting atypical syndromic ASD segregating with a novel truncating variant of

Indexed as

AniridiaCataractEye AbnormalitiesHeart Defects, CongenitalForkhead Transcription FactorsHumansForkhead Transcription FactorsFOXC1 protein, humananterior segment dysgenesisFOXC1intrafamilial variabilityin vitro studiesnovel variantophthalmic genetics

Identifiers

PMID35327965
PMCPMC8949076

What OpenQuestion holds

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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.