Evidence map›Paper›PMID 30089822›Full record

ArticleEuropean journal of human genetics : EJHG2018

Primary congenital glaucoma including next-generation sequencing-based approaches: clinical utility gene card.

Cynthia Yu-Wai-Man, Gavin Arno, John Brookes, Julian Garcia-Feijoo, Peng Tee Khaw, Mariya Moosajee

Open access · bronzeAbstract read
In one paragraph

Article in European journal of human genetics : EJHG, 2018. 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
1.1field-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

8 citing papers in PubMed, 20 citations in OpenAlex.

  1. Article
  2. Genetic Analysis ofBiomedicines · 2025
    Article
  3. Review
  4. Article
  5. Exploring the Genetic Landscape of Childhood Glaucoma.Children (Basel, Switzerland) · 2024
    Review
  6. Article
  7. Article
  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

6 authors at 3 institutions in 2 countries.

Cynthia Yu-Wai-ManNational Institute for Health Research (NIHR) Biomedical Research Centre at Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology, London, EC1V 9EL, UK. c.yu-wai-man@ucl.ac.uk.ORCID http://orcid.org/0000-0003-4868-5187
Gavin ArnoNational Institute for Health Research (NIHR) Biomedical Research Centre at Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology, London, EC1V 9EL, UK.
John BrookesMoorfields Eye Hospital, London, EC1V 2PD, UK.
Julian Garcia-FeijooOphthalmology Department and Instituto de Investigacion Sanitaria, Clinico San Carlos University Hospital and Universidad Complutense. Cooperative Research Network on Age-Related Ocular Pathology, Visual and Life Quality, Instituto de Salud Carlos III, Madrid, Spain.
Peng Tee KhawNational Institute for Health Research (NIHR) Biomedical Research Centre at Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology, London, EC1V 9EL, UK.
Mariya MoosajeeNational Institute for Health Research (NIHR) Biomedical Research Centre at Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology, London, EC1V 9EL, UK.
Moorfields Eye Hospital NHS Foundation Trust · GBGreat Ormond Street Hospital · GBInstituto de Salud Carlos III · ES

Funding

Medical Research Council
6 · The paper itself

Abstract

1. NAME OF THE DISEASE (SYNONYMS): Primary congenital glaucoma (PCG). Glaucoma, congenital (GLC). 2. OMIM# OF THE DISEASE: 231300- GLC3A. 600975- GLC3B. 613085- GLC3C. 613086- GLC3D. 617272- GLC3E. 3. NAME OF THE ANALYSED GENES OR DNA/CHROMOSOME SEGMENTS: CYP1B1. LTBP2. MYOC. FOXC1. TEK. 4. OMIM# OF THE GENE(S): CYP1B1 MIM# 601771. LTBP2 MIM# 602091. MYOC MIM# 601652. FOXC1 MIM# 601090. TEK MIM# 600221. Review of the analytical and clinical validity, as well as of the clinical utility of DNA-based testing for variants in the CYP1B1, LTBP2 and MYOC gene(s) in ⊠ diagnostic, ⊠ predictive and ⊠ prenatal settings and for ⊠ risk assessment in relatives.

Indexed as

Cytochrome P-450 CYP1B1Cytoskeletal ProteinsEye ProteinsForkhead Transcription FactorsGenetic TestingGlaucomaGlycoproteinsHigh-Throughput Nucleotide SequencingHumansLatent TGF-beta Binding ProteinsMyocilinReceptor, TIE-2Sequence Analysis, DNACYP1B1 protein, humanCytochrome P-450 CYP1B1Cytoskeletal ProteinsEye ProteinsForkhead Transcription FactorsFOXC1 protein, humanGlycoproteinsLatent TGF-beta Binding ProteinsLTBP2 protein, humanMyocilinReceptor, TIE-2TEK protein, human

Identifiers

PMID30089822
PMCPMC6189180
OpenAlexW2886208523

What OpenQuestion holds

Textmetadata
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.