Evidence map›Paper›PMID 30630813›Full record

ArticleCold Spring Harbor molecular case studies2019

Late-onset pattern macular dystrophy mimicking

Chu Jian Ma, Winston Lee, Nicholas Stong, Jana Zernant, Stanley Chang, David Goldstein, Takayuki Nagasaki, Rando Allikmets

Open access · diamondAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Cold Spring Harbor molecular case studies, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing 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

7 citing papers in PubMed, 10 citations in OpenAlex.

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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

8 authors at 1 institution in 1 country.

Chu Jian MaDepartment of Ophthalmology, College of Physicians and Surgeons, Columbia University, New York, New York 10032, USA.
Winston LeeDepartment of Ophthalmology, College of Physicians and Surgeons, Columbia University, New York, New York 10032, USA.
Nicholas StongInstitute of Genomic Medicine, Columbia University, New York, New York 10032, USA.
Jana ZernantDepartment of Ophthalmology, College of Physicians and Surgeons, Columbia University, New York, New York 10032, USA.
Stanley ChangDepartment of Ophthalmology, College of Physicians and Surgeons, Columbia University, New York, New York 10032, USA.
David GoldsteinInstitute of Genomic Medicine, Columbia University, New York, New York 10032, USA.
Takayuki NagasakiDepartment of Ophthalmology, College of Physicians and Surgeons, Columbia University, New York, New York 10032, USA.
Rando AllikmetsDepartment of Ophthalmology, College of Physicians and Surgeons, Columbia University, New York, New York 10032, USA.
Columbia University · US

Funding

Translational Core for Therapeutic and Diagnostic DevelopmentP30EY001792 · NEI · UNIVERSITY OF ILLINOIS AT CHICAGO · PI MCANANY, JAMES JASON · 1985 to 2025
$14.8M
Instrumentation, Fabrication, and Design CoreP30EY019007 · NEI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI Xin Zhang · 2010 to 2026
$12.9M
Precision medicine for ABCA4 disease: modifier allelesR01EY028203 · NEI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI ALLIKMETS, RANDO L · 2018 to 2021
$2.3M
Stargardt disease with low lipofuscinR01EY028954 · NEI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI ALLIKMETS, RANDO L · 2019 to 2022
$2.1M
NEI NIH HHS P30 EY001792NEI NIH HHS P30 EY019007NEI NIH HHS R01 EY028203NEI NIH HHS R01 EY028954
6 · The paper itself

Abstract

ROM1 (retinal outer segment membrane protein 1) is a 351-amino acid integral membrane protein on Chromosome 11q, with high structural similarity to PRPH2/RDS. Localized at the rims of photoreceptor outer segments (OSs), it is required for the maintenance of OS structure. Here, we describe a case with a phenotypic manifestation of a homozygous single-base pair deletion, c.712delC (p.Leu238Cysfs*78) in the

Indexed as

ATP-Binding Cassette TransportersElectroretinographyExome SequencingEye ProteinsFemaleFrameshift MutationHomozygoteHumansMacular DegenerationMiddle AgedPeripherinsPhenotypeRetinaTetraspaninsABCA4 protein, humanATP-Binding Cassette TransportersEye ProteinsPeripherinsPRPH2 protein, humanROM1 protein, humanTetraspaninsmacular flecksmacular retinal pigment epithelial mottling

Identifiers

PMID30630813
PMCPMC6549556
OpenAlexW2911053805

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.