Evidence map›Paper›PMID 36341116›Full record

ArticleFrontiers in neurology2022

Case report: Expanding the phenotype of

Ethiraj Ravindran, Noor Ullah, Shyamala Mani, Elaine Guo Yan Chew, Moses Tandiono, Jia Nee Foo, Chiea Chuen Khor, Angela M Kaindl, Saima Siddiqi

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

Article in Frontiers in neurology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.4field-weighted citation impact, top 32% 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

1 citing paper in PubMed, 2 citations in OpenAlex.

  1. 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

9 authors at 5 institutions in 3 countries.

Ethiraj RavindranCharité-Universitätsmedizin Berlin, Institute of Cell Biology and Neurobiology, Berlin, Germany.
Noor UllahInstitute of Biomedical and Genetic Engineering (IBGE), Islamabad, Pakistan.
Shyamala ManiCharité-Universitätsmedizin Berlin, Institute of Cell Biology and Neurobiology, Berlin, Germany.
Elaine Guo Yan ChewHuman Genetics, Genome Institute of Singapore, ASTAR, Singapore, Singapore.
Moses TandionoHuman Genetics, Genome Institute of Singapore, ASTAR, Singapore, Singapore.
Jia Nee FooHuman Genetics, Genome Institute of Singapore, ASTAR, Singapore, Singapore.
Chiea Chuen KhorHuman Genetics, Genome Institute of Singapore, ASTAR, Singapore, Singapore.
Angela M KaindlCharité-Universitätsmedizin Berlin, Institute of Cell Biology and Neurobiology, Berlin, Germany.
Saima SiddiqiInstitute of Biomedical and Genetic Engineering (IBGE), Islamabad, Pakistan.
Charité - Universitätsmedizin Berlin · DEGenome Institute of Singapore · SGInstitute of Biomedical and Genetic Engineering · PKAgency for Science, Technology and Research · SGSingapore Eye Research Institute · SG

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

RhoGTPase regulators play a key role in the development of the nervous system, and their dysfunction can result in brain malformation and associated disorders. Several guanine nucleotide exchange factors (GEF) have been linked to neurodevelopmental disorders. In line with this, ARHGEF17 has been recently linked as a risk gene to intracranial aneurysms. Here we report siblings of a consanguineous Pakistani family with biallelic variants in the

Indexed as

ARHGEF17microcephalymissense mutationmotor dysfunctionneurodevelopmental disorder

Identifiers

PMID36341116
PMCPMC9630465
OpenAlexW4306929770

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.