Evidence map›Paper›PMID 38392311›Full record

ArticleBiology2024

The Importance of Offering Exome or Genome Sequencing in Adult Neuromuscular Clinics.

Laynie Dratch, Tanya M Bardakjian, Kelsey Johnson, Nareen Babaian, Pedro Gonzalez-Alegre, Lauren Elman, Colin Quinn, Michael H Guo, Steven S Scherer, Defne A Amado

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

Article in Biology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
0.6field-weighted citation impact, top 31% 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

0 citing papers in PubMed, 1 citations in OpenAlex.

No citing paper in PubMed yet.

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

10 authors at 3 institutions in 1 country.

Laynie DratchDepartment of Neurology, University of Pennsylvania, Philadelphia, PA 19104, USA.ORCID 0000-0002-2179-3199
Tanya M BardakjianDepartment of Neurology, University of Pennsylvania, Philadelphia, PA 19104, USA.ORCID 0009-0001-1932-1563
Kelsey JohnsonDepartment of Neurology, University of Pennsylvania, Philadelphia, PA 19104, USA.
Nareen BabaianDepartment of Neurology, University of Pennsylvania, Philadelphia, PA 19104, USA.
Pedro Gonzalez-AlegreDepartment of Neurology, University of Pennsylvania, Philadelphia, PA 19104, USA.
Lauren ElmanDepartment of Neurology, University of Pennsylvania, Philadelphia, PA 19104, USA.
Colin QuinnDepartment of Neurology, University of Pennsylvania, Philadelphia, PA 19104, USA.
Michael H GuoDepartment of Neurology, University of Pennsylvania, Philadelphia, PA 19104, USA.
Steven S SchererDepartment of Neurology, University of Pennsylvania, Philadelphia, PA 19104, USA.ORCID 0000-0002-3900-2367
Defne A AmadoDepartment of Neurology, University of Pennsylvania, Philadelphia, PA 19104, USA.ORCID 0000-0001-6202-3900
University of Pennsylvania · USSarepta Therapeutics (United States) · USSpark Therapeutics (United States) · US

Funding

Viral-based Therapeutic Approaches for Reversal of ALS PathologyK08NS114106 · NINDS · UNIVERSITY OF PENNSYLVANIA · PI AMADO, DEFNE AUDREY · 2020 to 2024
$1.1M
NINDS NIH HHS K08 NS114106
6 · The paper itself

Abstract

Advances in gene-specific therapeutics for patients with neuromuscular disorders (NMDs) have brought increased attention to the importance of genetic diagnosis. Genetic testing practices vary among adult neuromuscular clinics, with multi-gene panel testing currently being the most common approach; follow-up testing using broad-based methods, such as exome or genome sequencing, is less consistently offered. Here, we use five case examples to illustrate the unique ability of broad-based testing to improve diagnostic yield, resulting in identification of

Indexed as

genetic counselinggenetic testingneurogeneticsneuromuscular

Identifiers

PMID38392311
PMCPMC10886886
OpenAlexW4391486377

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.