Evidence map›Paper›PMID 32565670›Full record

ArticleMolecular vision2020

Biallelic

Rachel M Huckfeldt, Florin Grigorian, Emily Place, Jason I Comander, Demetrios Vavvas, Lucy H Young, Paul Yang, Maria Shurygina, Eric A Pierce, Mark E Pennesi

Open access · greenAbstract readMulticenter Study
In one paragraph

Article in Molecular vision, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed
0.6field-weighted citation impact, top 35% 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

8 citing papers in PubMed, 9 citations in OpenAlex.

  1. Trial
  2. Article
  3. Article
  4. Observational
  5. Article
  6. Compound dominant-null heterozygosity in a family withAmerican journal of ophthalmology case reports · 2022
    Article
  7. Genetic dissection of non-syndromic retinitis pigmentosa.Indian journal of ophthalmology · 2022
    Review
  8. 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

10 authors at 3 institutions in 1 country.

Rachel M HuckfeldtDepartment of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, MA.
Florin GrigorianCasey Eye Institute, Oregon Health & Science University, Portland, OR.
Emily PlaceDepartment of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, MA.
Jason I ComanderDepartment of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, MA.
Demetrios VavvasDepartment of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, MA.
Lucy H YoungDepartment of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, MA.
Paul YangCasey Eye Institute, Oregon Health & Science University, Portland, OR.
Maria ShuryginaCasey Eye Institute, Oregon Health & Science University, Portland, OR.
Eric A PierceDepartment of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, MA.
Mark E PennesiCasey Eye Institute, Oregon Health & Science University, Portland, OR.
Massachusetts Eye and Ear Infirmary · USOregon Health & Science University · USHarvard University · US

Funding

Proteomics CoreP30EY010572 · NEI · OREGON HEALTH & SCIENCE UNIVERSITY · PI John Peter Campbell · 1995 to 2026
$19.4M
Precision Medicine for Inherited Retinal DegenerationsR01EY012910 · NEI · UNIVERSITY OF PENNSYLVANIA · PI Eric A Pierce · 1999 to 2026
$15.9M
P30 Core Grant for Vision ResearchP30EY014104 · NEI · MASSACHUSETTS EYE AND EAR INFIRMARY · PI Eric A Pierce · 2002 to 2026
$15.1M
Genetic Causes and Genetic Modifiers of Inherited Retinal DegenerationsR01EY026904 · NEI · MASSACHUSETTS EYE AND EAR INFIRMARY · PI BUJAKOWSKA, KINGA, PIERCE, ERIC A · 2017 to 2021
$3.0M
Necroptosis, neuroprotection and axonal regeneration in retina ganglion cell injuryR01EY025362 · NEI · MASSACHUSETTS EYE AND EAR INFIRMARY · PI VAVVAS, DEMETRIOS · 2015 to 2018
$1.5M
Neuroprotective Mechanisms of Inosine Monophosphate Dehydrogenase Inhibitors in Retinitis PigmentosaK08EY026650 · NEI · OREGON HEALTH & SCIENCE UNIVERSITY · PI YANG, PAUL · 2016 to 2020
$1.1M
Necroptosis and Neuroprotection in AMDR21EY023079 · NEI · MASSACHUSETTS EYE AND EAR INFIRMARY · PI VAVVAS, DEMETRIOS · 2013 to 2014
$404k
NEI NIH HHS K08 EY026650NEI NIH HHS P30 EY010572NEI NIH HHS P30 EY014104NEI NIH HHS R01 EY012910NEI NIH HHS R01 EY025362NEI NIH HHS R01 EY026904NEI NIH HHS R21 EY023079
6 · The paper itself

Abstract

Purpose: To evaluate the phenotypic spectrum of autosomal recessive Methods: A retrospective multicenter study was performed of patients with biallelic Results: Nineteen eligible patients from 17 families were identified and ranged in age from 10 to 56 years at the most recent evaluation. Ten of the 21 unique Conclusions: Biallelic

Indexed as

AdolescentAdultAllelesChildCohort StudiesCone-Rod DystrophiesDNA Mutational AnalysisElectroretinographyEye Diseases, HereditaryFemaleGenotypeHumansLeber Congenital AmaurosisMacular DegenerationMaleMicrotubule-Associated ProteinsMicrotubule-Associated ProteinsRP1 protein, human

Identifiers

PMID32565670
PMCPMC7300197
OpenAlexW3035901167

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.