Evidence map›Paper›PMID 31928268›Full record

ArticleOphthalmic genetics2019

Novel homozygous

Eric D Gaier, Inderneel Sahai, Janey L Wiggs, Brian McGeeney, Jodi Hoffman, Crandall E Peeler

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

Article in Ophthalmic genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed, 1 pooled it
0.3field-weighted citation impact, top 39% 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

4 citing papers in PubMed, 1 synthesis or guideline pooled it, 6 citations in OpenAlex.

  1. Pooled it
  2. Inborn errors of metabolism associated with 3-methylglutaconic aciduria.Clinica chimica acta; international journal of clinical chemistry · 2021
    Review
  3. Mitochondrial diseases: expanding the diagnosis in the era of genetic testing.Journal of translational genetics and genomics · 2020
    Article
  4. Eye involvement in inherited metabolic disorders.Therapeutic advances in ophthalmology
    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

6 authors at 4 institutions in 1 country.

Eric D GaierDepartment of Ophthalmology, Boston Children's Hospital, Boston, Massachusetts, USA.ORCID 0000-0002-2923-0024
Inderneel SahaiHarvard Medical School, Boston, Massachusetts, USA.
Janey L WiggsDepartment of Ophthalmology, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts, USA.ORCID 0000-0003-1890-3278
Brian McGeeneyHarvard Medical School, Boston, Massachusetts, USA.ORCID 0000-0002-6510-7496
Jodi HoffmanBoston University School of Medicine, Boston, Massachusetts, USA.ORCID 0000-0002-4329-0269
Crandall E PeelerBoston University School of Medicine, Boston, Massachusetts, USA.ORCID 0000-0002-2909-0519
Boston University · USMassachusetts Eye and Ear Infirmary · USBrigham and Women's Hospital · USHarvard University · US

Funding

Exploiting principles of timing-dependent synaptic plasticity to treat amblyopiaK08EY030164 · NEI · BOSTON CHILDREN'S HOSPITAL · PI GAIER, ERIC DEAN · 2019 to 2023
$1.2M
NEI NIH HHS K08 EY030164
6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

HomozygoteMutationChild, PreschoolChoreaFemaleGlutaratesHumansMaleMetabolism, Inborn ErrorsOptic AtrophyPedigreePhenotypePrognosisProteinsRetrospective StudiesSiblings3-methylglutaconic acidGlutaratesOPA3 protein, humanProteins3-methylglutaconic aciduria type IIIataxiacosteff syndromeOPA3Optic atrophy

Identifiers

PMID31928268
PMCPMC7050282
OpenAlexW2999996590

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.