Evidence map›Paper›PMID 35022222›Full record

ArticleCold Spring Harbor molecular case studies2022

Whole-exome sequencing detects

Amanda Thomas-Wilson, Avinash V Dharmadhikari, Jonas J Heymann, Vaidehi Jobanputra, Salvatore DiMauro, Michio Hirano, Ali B Naini, Mythily Ganapathi

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

Article in Cold Spring Harbor molecular case studies, 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
–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

1 citing paper in PubMed, 3 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

8 authors at 1 institution in 1 country.

Amanda Thomas-WilsonDepartment of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, New York 10032, USA.
Avinash V DharmadhikariDepartment of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, New York 10032, USA.
Jonas J HeymannDepartment of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, New York 10032, USA.
Vaidehi JobanputraDepartment of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, New York 10032, USA.
Salvatore DiMauroDepartment of Neurology, Columbia University Irving Medical Center, New York, New York 10032, USA.
Michio HiranoDepartment of Neurology, Columbia University Irving Medical Center, New York, New York 10032, USA.
Ali B NainiDepartment of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, New York 10032, USA.
Mythily GanapathiDepartment of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, New York 10032, USA.
Columbia University Irving Medical Center · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

McArdle disease is a debilitating glycogen storage disease with typical onset in childhood. Here, we describe a former competitive athlete with early adult-onset McArdle disease and a septuagenarian with a history of exercise intolerance since adolescence who was evaluated for proximal muscle weakness. Exome sequencing identified biallelic variants in the

Indexed as

Glycogen Phosphorylase, Muscle FormGlycogen Storage Disease Type VAdolescentAdultExome SequencingGenotypeHomozygoteHumansGlycogen Phosphorylase, Muscle Formacute rhabdomyolysisexercise-induced muscle fatigueexercise-induced myoglobinuriarecurrent myoglobinuria

Identifiers

PMID35022222
PMCPMC8958908
OpenAlexW4206553517

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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.