Evidence map›Paper›PMID 28050599›Full record

ArticleCold Spring Harbor molecular case studies2017

Optic atrophy, cataracts, lipodystrophy/lipoatrophy, and peripheral neuropathy caused by a de novo

Stephanie C Bourne, Katelin N Townsend, Casper Shyr, Allison Matthews, Scott A Lear, Raj Attariwala, Anna Lehman, Wyeth W Wasserman, Clara van Karnebeek, Graham Sinclair and 2 more

Open access · diamondAbstract read
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 9 papers.

0numbers the graph read from it
0cells of the map it votes in
9citing 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

9 citing papers in PubMed, 14 citations in OpenAlex.

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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

12 authors at 4 institutions in 1 country.

Stephanie C BourneDepartment of Microbiology and Immunology, Dalhousie University, Halifax, Nova Scotia B3H 4R2, Canada.
Katelin N TownsendDepartment of Medical Genetics, University of British Columbia, Vancouver, British Columbia V6T 1Z4, Canada.
Casper ShyrDepartment of Medical Genetics, University of British Columbia, Vancouver, British Columbia V6T 1Z4, Canada.
Allison MatthewsDepartment of Medical Genetics, University of British Columbia, Vancouver, British Columbia V6T 1Z4, Canada.
Scott A LearFaculty of Health Sciences, Simon Fraser University, Vancouver, British Columbia V5A 1S6, Canada.
Raj AttariwalaAIM Medical Imaging, Vancouver, British Columbia V6H 1C9, Canada.
Anna LehmanDepartment of Medical Genetics, University of British Columbia, Vancouver, British Columbia V6T 1Z4, Canada.
Wyeth W WassermanDepartment of Medical Genetics, University of British Columbia, Vancouver, British Columbia V6T 1Z4, Canada.
Clara van KarnebeekDepartment of Medical Genetics, University of British Columbia, Vancouver, British Columbia V6T 1Z4, Canada.
Graham SinclairDepartment of Pathology, British Columbia Children's Hospital, Vancouver, British Columbia V6H 3N1, Canada.
Hilary VallanceDepartment of Pathology, British Columbia Children's Hospital, Vancouver, British Columbia V6H 3N1, Canada.
William T GibsonDepartment of Medical Genetics, University of British Columbia, Vancouver, British Columbia V6T 1Z4, Canada.
University of British Columbia · CABC Children's Hospital · CADalhousie University · CASimon Fraser University · CA

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

We describe a woman who presented with cataracts, optic atrophy, lipodystrophy/lipoatrophy, and peripheral neuropathy. Exome sequencing identified a c.235C > G p.(Leu79Val) variant in the optic atrophy 3 (

Indexed as

ataxiacongenital nuclear cataractprogressive peripheral neuropathy

Identifiers

PMID28050599
PMCPMC5171695
OpenAlexW2559809700

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.