Evidence map›Paper›PMID 39975398›Full record

ArticlebioRxiv : the preprint server for biology2025

Higher throughput assays for understanding the pathogenicity of variants of unknown significance (VUS) in the RPE65 gene.

Leila Azizzadeh Pormehr, Kannan Vrindavan Manian, Ha Eun Cho, Jason Comander

Abstract readPreprint
PubMed Full text at PMC Publisher
In one paragraph

Article in bioRxiv : the preprint server for biology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

4 authors.

Leila Azizzadeh PormehrOcular Genomics Institute, Berman-Gund Laboratory for the Study of Retinal Degenerations, Mass Eye and Ear, Harvard Medical School, Boston, Massachusetts, USA.ORCID 0000-0002-7402-7244
Kannan Vrindavan ManianOcular Genomics Institute, Berman-Gund Laboratory for the Study of Retinal Degenerations, Mass Eye and Ear, Harvard Medical School, Boston, Massachusetts, USA.ORCID 0000-0003-1764-2424
Ha Eun ChoOcular Genomics Institute, Berman-Gund Laboratory for the Study of Retinal Degenerations, Mass Eye and Ear, Harvard Medical School, Boston, Massachusetts, USA.ORCID 0000-0001-6068-6735
Jason ComanderOcular Genomics Institute, Berman-Gund Laboratory for the Study of Retinal Degenerations, Mass Eye and Ear, Harvard Medical School, Boston, Massachusetts, USA.ORCID 0000-0002-4257-7145

Funding

P30 Core Grant for Vision ResearchP30EY014104 · NEI · MASSACHUSETTS EYE AND EAR INFIRMARY · PI Eric A Pierce · 2002 to 2026
$15.1M
Improving the throughput of diagnosis and treatment of inherited diseases of the retinaR01EY031036 · NEI · MASSACHUSETTS EYE AND EAR INFIRMARY · PI COMANDER, JASON · 2020 to 2024
$2.1M
NEI NIH HHS P30 EY014104NEI NIH HHS R01 EY031036
6 · The paper itself

Abstract

Purpose: Methods: 30 different variants of Results: There was a high correlation between protein levels measured by Western blot, flow cytometry, and the pooled FACS assay. Using these assays, we confirm and extend Conclusion: This scalable approach can be used to solve patient pedigrees with VUS in

Indexed as

fluorescence activated cell sorting (FACS)High-throughput assaysinherited retinal diseasesnext-generation sequencing (NGS)retinitis pigmentosaRPE65variant of unknown significance (VUS)variant pathogenicityvoretigene neparvovec

Identifiers

PMID39975398
PMCPMC11838478

What Socratic holds

Textmetadata
LicenceCC BY
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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 Socratic graph.