Evidence map›Paper›PMID 40132685›Full record

ArticleOphthalmology. Retina2025

Genetic Counselor Integration Improves Genetic Eye Disease Diagnostics.

Mark Lindquist, Jennifer Cech, Amanda Peterson, Jennifer Huey, Debarshi Mustafi

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Ophthalmology. Retina, 2025. 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
–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

1 citing paper in PubMed.

  1. Review
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.

Mark LindquistDepartment of Ophthalmology, University of Washington, Seattle, Washington; Roger and Angie Karalis Johnson Retina Center, Seattle, Washington.
Jennifer CechDivision of Genetics, Seattle Children's Hospital, Seattle, Washington.
Amanda PetersonDivision of Genetics, Seattle Children's Hospital, Seattle, Washington.
Jennifer HueyDepartment of Ophthalmology, University of Washington, Seattle, Washington; Roger and Angie Karalis Johnson Retina Center, Seattle, Washington.
Debarshi MustafiDepartment of Ophthalmology, University of Washington, Seattle, Washington; Roger and Angie Karalis Johnson Retina Center, Seattle, Washington; Brotman Baty Institute for Precision Medicine, Seattle, Washington; Division of Ophthalmology, Seattle Children's Hospital, Seattle, Washington. Electronic address: debarshi@uw.edu.

Funding

The role of non-coding variants in Usher diseaseK08EY033789 · NEI · UNIVERSITY OF WASHINGTON · PI Debarshi Mustafi · 2023 to 2026
$921k
NEI NIH HHS K08 EY033789
6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

Genetic counselingGenetic testingInherited retinal diseaseMolecular diagnosisMultidisciplinary clinic

Identifiers

PMID40132685
PMCPMC12353845

What OpenQuestion holds

Textmetadata
LicenceTDM
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.