Evidence map›Paper›PMID 39766903›Full record

ArticleGenes2024

Novel Intragenic and Genomic Variants Highlight the Phenotypic Variability in

Linda M Reis, Donald Basel, Pierre Bitoun, David S Walton, Tom Glaser, Elena V Semina

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Genes, 2024. 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
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.

  1. Article
  2. 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

6 authors.

Linda M ReisDepartment of Ophthalmology and Visual Sciences, Medical College of Wisconsin, 8701 Watertown Plank Road, Milwaukee, WI 53226, USA.ORCID 0000-0002-5098-6336
Donald BaselDepartment of Pediatrics and Children's Research Institute, Medical College of Wisconsin and Children's Wisconsin, 8701 Watertown Plank Road, Milwaukee, WI 53226, USA.ORCID 0000-0002-1801-8554
Pierre BitounGénétique Médicale, SIDVA91/Altérité, 1 Impasse de la Cour de France, 91260 Juvisy-sur-Orge, France.
David S WaltonDepartment of Ophthalmology, Massachusetts Eye and Ear Infirmary, Harvard Medical School, 8 Hawthorne Place, Boston, MA 02114, USA.
Tom GlaserDepartment of Cell Biology and Human Anatomy, University of California, Davis, CA 95616, USA.
Elena V SeminaDepartment of Ophthalmology and Visual Sciences, Medical College of Wisconsin, 8701 Watertown Plank Road, Milwaukee, WI 53226, USA.ORCID 0000-0003-0531-3586

Funding

Molecular Mechanisms of Axenfeld-Rieger SyndromeR01EY015518 · NEI · MEDICAL COLLEGE OF WISCONSIN · PI Elena V Semina · 2005 to 2026
$5.6M
Homeotic hotspot in the human genome for eye and brain diseaseR01EY033742 · NEI · UNIVERSITY OF CALIFORNIA AT DAVIS · PI Thomas M. Glaser · 2022 to 2026
$2.2M
Genomic duplications in anophthalmia, microphthalmia and colobomaR01EY034398 · NEI · MEDICAL COLLEGE OF WISCONSIN · PI SEMINA, ELENA V · 2022 to 2025
$1.5M
NEI NIH HHS R01 EY015518NEI NIH HHS R01 EY033742NEI NIH HHS R01 EY034398Wellcome Trust WT223718/Z/21/Z
6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

MicrophthalmosPhenotypeAdolescentAdultAnophthalmosChildChild, PreschoolCorneal OpacityExome SequencingFemaleHumansInfantIntellectual DisabilityMalePedigreeaphakiacorneal leukomacorneal opacityduplicationHCCSmicrophthalmia with linear skin defects (MLS)Peters anomaly

Identifiers

PMID39766903
PMCPMC11675438

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.