Evidence map›Paper›PMID 34915818›Full record

ArticleOphthalmic genetics2022

A homozygous in-frame duplication within the LRRCT consensus sequence of

Ning Chiu, Winston Lee, Pei-Kang Liu, Sarah R Levi, Hung-Hsi Wang, Nelson Chen, Eugene Yu-Chuan Kang, Go Hun Seo, Hane Lee, Laura Liu and 3 more

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

Article in Ophthalmic genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
0.9field-weighted citation impact, top 23% of its field
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

6 citing papers in PubMed, 6 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. Double Hyperautofluorescence Rings as a Sign of CFAP410-related Retinopathy.Investigative ophthalmology & visual science · 2023
    Article
  5. Article
  6. Pathogenicity and functional analysis ofFrontiers in medicine · 2023
    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

13 authors at 4 institutions in 2 countries.

Ning ChiuDepartment of Ophthalmology, Mackay Memorial Hospital, Taipei, Taiwan.ORCID 0000-0001-7179-7115
Winston LeeDepartment of Genetics and Development, Columbia University, New York, New York, USA.
Pei-Kang LiuEdward S. Harkness Eye Institute, Department of Ophthalmology, Columbia University Irving Medical Center, New York, New York, USA.ORCID 0000-0002-6417-4363
Sarah R LeviEdward S. Harkness Eye Institute, Department of Ophthalmology, Columbia University Irving Medical Center, New York, New York, USA.ORCID 0000-0002-6503-1778
Hung-Hsi WangEdward S. Harkness Eye Institute, Department of Ophthalmology, Columbia University Irving Medical Center, New York, New York, USA.
Nelson ChenEdward S. Harkness Eye Institute, Department of Ophthalmology, Columbia University Irving Medical Center, New York, New York, USA.
Eugene Yu-Chuan KangCollege of Medicine, Chang Gung University, Taoyuan, Taiwan.ORCID 0000-0001-6814-6530
Go Hun SeoDivision of Medical Genetics, 3billion Inc., Seoul, South Korea.
Hane LeeDivision of Medical Genetics, 3billion Inc., Seoul, South Korea.ORCID 0000-0002-4736-0412
Laura LiuCollege of Medicine, Chang Gung University, Taoyuan, Taiwan.
Wei-Chi WuCollege of Medicine, Chang Gung University, Taoyuan, Taiwan.ORCID 0000-0003-3760-7255
Shawn H TsaiDepartment of Ophthalmology, Mackay Memorial Hospital, Taipei, Taiwan.
Nan-Kai WangEdward S. Harkness Eye Institute, Department of Ophthalmology, Columbia University Irving Medical Center, New York, New York, USA.ORCID 0000-0002-6277-9879
Columbia University Irving Medical Center · USChang Gung University · TWMackay Memorial Hospital · TWNational Sun Yat-sen University · TW

Funding

Instrumentation, Fabrication, and Design CoreP30EY019007 · NEI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI Xin Zhang · 2010 to 2026
$12.9M
Reprogramming the metabolome to overcome the genetic heterogeneity in retinitis pigmentosaR01EY031354 · NEI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI WANG, NAN-KAI · 2020 to 2024
$2.0M
NEI NIH HHS P30 EY019007NEI NIH HHS R01 EY031354
6 · The paper itself

Abstract

Ciliopathies are a group of genetic dystrophies causing syndromic and non-syndromic retinal degeneration. We identified

Indexed as

CiliopathiesCone-Rod DystrophiesDwarfismRetinal DystrophiesAdultChildConsensus SequenceElectroretinographyHumansMaleMutationPedigreePhenotypeVision DisordersYoung AdultC21orf2CFAP410Ciliopathycone-rod dystrophyretinal dystrophyshort staturewhole exome sequencing

Identifiers

PMID34915818
PMCPMC10234696
OpenAlexW4200253770

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.