Evidence map›Paper›PMID 32013026›Full record

ArticleGenes2020

Comprehensive Geno- and Phenotyping in a Complex Pedigree Including Four Different Inherited Retinal Dystrophies.

Johannes Birtel, Martin Gliem, Kristina Hess, Theresa H Birtel, Frank G Holz, Ulrich Zechner, Hanno J Bolz, Philipp Herrmann

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Genes, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed, 1 pooled it
0.8field-weighted citation impact, top 29% 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, 1 synthesis or guideline pooled it, 13 citations in OpenAlex.

  1. Pooled it
  2. Review
  3. The retinal phenotype in primary hyperoxaluria type 2 and 3.Pediatric nephrology (Berlin, Germany) · 2023
    Article
  4. Article
  5. Article
  6. Article
  7. Next-Generation Sequencing Applications for Inherited Retinal Diseases.International journal of molecular sciences · 2021
    Review
  8. Simultaneous Identification of BothFrontiers in genetics · 2021
    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

8 authors at 4 institutions in 2 countries.

Johannes BirtelDepartment of Ophthalmology, University of Bonn, 53113 Bonn, Germany.
Martin GliemDepartment of Ophthalmology, University of Bonn, 53113 Bonn, Germany.
Kristina HessDepartment of Ophthalmology, University of Bonn, 53113 Bonn, Germany.
Theresa H BirtelDepartment of Ophthalmology, University of Bonn, 53113 Bonn, Germany.
Frank G HolzDepartment of Ophthalmology, University of Bonn, 53113 Bonn, Germany.
Ulrich ZechnerSenckenberg Centre for Human Genetics, 60314 Frankfurt, Germany.
Hanno J BolzSenckenberg Centre for Human Genetics, 60314 Frankfurt, Germany.
Philipp HerrmannDepartment of Ophthalmology, University of Bonn, 53113 Bonn, Germany.
University of Bonn · DEJohannes Gutenberg University Mainz · DERoche (Switzerland) · CHUniversity Hospital Cologne · DE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Inherited retinal dystrophies (IRDs) are characterized by high clinical and genetic heterogeneity. A precise characterization is desirable for diagnosis and has impact on prognosis, patient counseling, and potential therapeutic options. Here, we demonstrate the effectiveness of the combination of in-depth retinal phenotyping and molecular genetic testing in complex pedigrees with different IRDs. Four affected Caucasians and two unaffected relatives were characterized including multimodal retinal imaging, functional testing, and targeted next-generation sequencing. A considerable intrafamilial phenotypic and genotypic heterogeneity was identified. While the parents of the index family presented with rod-cone dystrophy and

Indexed as

AdolescentAlbinism, OcularATP-Binding Cassette TransportersCalcium Channels, L-TypeChildCone-Rod DystrophiesEye Diseases, HereditaryFemaleFluorescein AngiographyGenetic Diseases, X-LinkedGenetic TestingHigh-Throughput Nucleotide SequencingHumansMaleMicrophthalmia-Associated Transcription FactorMiddle AgedABCA4 protein, humanATP-Binding Cassette TransportersCACNA1F protein, humanCalcium Channels, L-TypeMicrophthalmia-Associated Transcription FactorMITF protein, humancongenital stationary night blindnessdystrophygenotypemolecular testingNGSphenotyperetinaretinitis pigmentosaStargardt diseaseWaardenburg syndrome

Identifiers

PMID32013026
PMCPMC7073860
OpenAlexW3004269110

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.