Evidence map›Paper›PMID 28652255›Full record

ArticleCold Spring Harbor molecular case studies2017

Identification of a novel mutation in the

Jingga Inlora, M Reza Sailani, Hamidreza Khodadadi, Ahmad Teymurinezhad, Shinichi Takahashi, Jonathan A Bernstein, Masoud Garshasbi, Michael P Snyder

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

Article in Cold Spring Harbor molecular case studies, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
–field-weighted citation impact
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

2 citing papers in PubMed, 4 citations in OpenAlex.

  1. Article
  2. 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.

Jingga InloraDepartment of Genetics, Stanford University, Stanford, California 94305, USA.ORCID http://orcid.org/0000-0001-8393-5853
M Reza SailaniDepartment of Genetics, Stanford University, Stanford, California 94305, USA.
Hamidreza KhodadadiDepartment of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran 19839-63113, Iran.
Ahmad TeymurinezhadDepartment of Medical Genetics, School of Medicine, Ilam University of Medical Sciences, Ilam, Iran.
Shinichi TakahashiDepartment of Genetics, Stanford University, Stanford, California 94305, USA.
Jonathan A BernsteinDepartment of Pediatrics, Stanford University, Stanford, California 94305, USA.
Masoud GarshasbiDepartment of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran.
Michael P SnyderDepartment of Genetics, Stanford University, Stanford, California 94305, USA.
Stanford University · USMedical University of Ilam · IRShahid Beheshti University of Medical Sciences · IRTarbiat Modares University · IR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Hereditary ataxias are a clinically and genetically heterogeneous family of disorders defined by the inability to control gait and muscle coordination. Given the nonspecific symptoms of many hereditary ataxias, precise diagnosis relies on molecular genetic testing. To this end, we conducted whole-exome sequencing (WES) on a large consanguineous Iranian family with hereditary ataxia and oculomotor apraxia. WES in five affected and six unaffected individuals resulted in the identification of a homozygous novel stop-gain mutation in the

Indexed as

AdultApraxiasAtaxiaCerebellar AtaxiaChildChild, PreschoolConsanguinityDNA-Binding ProteinsFemaleHumansHypoalbuminemiaIranMaleMiddle AgedMutationNuclear ProteinsAPTX protein, humanDNA-Binding ProteinsNuclear Proteinsapraxiaataxiaathetosisprogressive cerebellar ataxia

Identifiers

PMID28652255
PMCPMC5701303
OpenAlexW2731246327

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.