Evidence map›Paper›PMID 31645973›Full record

ArticleHuman genome variation2019

Novel missense variants in the

Andrey N Gagunashvili, Louise Ocaka, Daniel Kelberman, Pinki Munot, Chiara Bacchelli, Philip L Beales, Vijeya Ganesan

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

Article in Human genome variation, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
1.8field-weighted citation impact, top 15% 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

6 citing papers in PubMed, 12 citations in OpenAlex.

  1. Review
  2. Article
  3. Review
  4. The Genetic Basis of Moyamoya Disease.Translational stroke research · 2022
    Review
  5. Review
  6. 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

7 authors at 3 institutions in 1 country.

Andrey N Gagunashvili1GOSgene, Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, UK.
Louise Ocaka1GOSgene, Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, UK.
Daniel Kelberman1GOSgene, Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, UK.
Pinki Munot2Neurology Department, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
Chiara Bacchelli1GOSgene, Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, UK.
Philip L Beales1GOSgene, Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, UK.
Vijeya Ganesan2Neurology Department, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
Great Ormond Street Hospital · GBGreat Ormond Street Hospital for Children NHS Foundation Trust · GBUniversity College London · GB

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

In this report, we present a European family with six individuals affected with Moyamoya disease (MMD). We detected two novel missense variants in the Moyamoya susceptibility gene

Indexed as

Genetics researchStroke

Identifiers

PMID31645973
PMCPMC6804521
OpenAlexW2966534682

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.