Evidence map›Paper›PMID 31836589›Full record

ArticleCold Spring Harbor molecular case studies2019

Compound heterozygous novel frameshift variants in the

Sara D Ragi, Jose Ronaldo Lima de Carvalho, Akemi J Tanaka, Karen Sophia Park, Vinit B Mahajan, Irene H Maumenee, Stephen H Tsang

Open access · diamondAbstract readCase Reports
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 10 papers.

0numbers the graph read from it
0cells of the map it votes in
10citing 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

10 citing papers in PubMed, 17 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

7 authors at 3 institutions in 3 countries.

Sara D RagiDepartment of Ophthalmology, Columbia University, New York, New York 10019, USA.
Jose Ronaldo Lima de CarvalhoDepartment of Ophthalmology, Columbia University, New York, New York 10019, USA.ORCID 0000-0002-7024-1702
Akemi J TanakaDepartment of Pathology and Cell Biology, Columbia University, New York, New York 10019, USA.
Karen Sophia ParkDepartment of Ophthalmology, Columbia University, New York, New York 10019, USA.ORCID 0000-0002-1605-3110
Vinit B MahajanOmics Laboratory, Byers Eye Institute, Stanford University, Palo Alto, California 94303, USA.
Irene H MaumeneeDepartment of Ophthalmology, Columbia University, New York, New York 10019, USA.
Stephen H TsangDepartment of Ophthalmology, Columbia University, New York, New York 10019, USA.
Broadcom (Israel) · ILColumbia University · USSmith-Kettlewell Eye Research Institute · US

Funding

Tumor Biology and Microenvironment ProgramP30CA013696 · NCI · COLUMBIA UNIV NEW YORK MORNINGSIDE · PI Anil K Rustgi · 1985 to 2026
$115.3M
Instrumentation, Fabrication, and Design CoreP30EY019007 · NEI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI Xin Zhang · 2010 to 2026
$12.9M
Toward mechanism- and gene-based therapies for retinal degenerationR01EY018213 · NEI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI Stephen H Tsang · 2008 to 2026
$6.6M
Gene Silencing and Gene Editing in PhototransductionR01EY024698 · NEI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI Stephen H Tsang · 2015 to 2026
$4.7M
Mechanistic Studies on Regenerative Medicine Approaches to Childhood BlindnessR01EY026682 · NEI · UNIVERSITY OF IOWA · PI BASSUK, ALEXANDER G, MAHAJAN, VINIT B · 2016 to 2019
$1.6M
Evaluating GWAS AMD Candidate Loci by Gene Editing in Human iPS CellsR21AG050437 · NIA · UNIVERSITY OF IOWA · PI BASSUK, ALEXANDER G, MAHAJAN, VINIT B · 2015 to 2016
$431k
NCI NIH HHS P30 CA013696NEI NIH HHS P30 EY019007NEI NIH HHS R01 EY018213NEI NIH HHS R01 EY024698NEI NIH HHS R01 EY026682NIA NIH HHS R21 AG050437
6 · The paper itself

Abstract

The

Indexed as

AC133 AntigenAdultChildElectroretinographyExome SequencingFamilyFemaleFrameshift MutationHeterozygoteHumansLeber Congenital AmaurosisMaleMutationPedigreePhenotypeRetinaAC133 AntigenPROM1 protein, humancongenital horizontal nystagmuscongenital visual impairmentsevere visual impairment

Identifiers

PMID31836589
PMCPMC6913139
OpenAlexW2996553336

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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.