Evidence map›Paper›PMID 40225149›Full record

ArticleHuman mutation2023

Clinical

Cecelia R Miller, Jin Fang, Pamela Snyder, Susan E Long, Thomas W Prior, Dan Jones, Matthew R Avenarius

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Human mutation, 2023. 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.

  1. Article
  2. Frontiers in genetics · 2024
    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

7 authors.

Cecelia R MillerThe Ohio State University Wexner Medical Center, Department of Pathology, 6100 Optometry Clinic & Health Science Faculty Office Building, 1664 Neil Avenue, Columbus, OH 43210, USA.
Jin FangThe Ohio State University James Comprehensive Cancer Center Molecular Pathology Laboratory, 2001 Polaris Parkway, Columbus, OH 43240, USA.
Pamela SnyderThe Ohio State University James Comprehensive Cancer Center Molecular Pathology Laboratory, 2001 Polaris Parkway, Columbus, OH 43240, USA.
Susan E LongThe Ohio State University James Comprehensive Cancer Center Molecular Pathology Laboratory, 2001 Polaris Parkway, Columbus, OH 43240, USA.
Thomas W PriorCase Western Reserve, Department of Pathology, 10900 Euclid Avenue, Cleveland, OH 44106, USA.
Dan JonesThe Ohio State University Wexner Medical Center, Department of Pathology, 6100 Optometry Clinic & Health Science Faculty Office Building, 1664 Neil Avenue, Columbus, OH 43210, USA.
Matthew R AvenariusThe Ohio State University Wexner Medical Center, Department of Pathology, 6100 Optometry Clinic & Health Science Faculty Office Building, 1664 Neil Avenue, Columbus, OH 43210, USA.ORCID 0000-0001-9516-5163

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Purpose: Therapeutic advances in the treatment of spinal muscular atrophy (SMA) prompt the need for robust and efficient molecular diagnosis of this disease. Approximately five percent of SMA cases are attributable to one copy of Methods: Results: 83 probands suspicious for a clinical diagnosis of SMA with a nondiagnostic Conclusions: Herein, we describe an optimized assay for clinical sequencing of the full coding region of

Indexed as

Muscular Atrophy, SpinalSurvival of Motor Neuron 1 ProteinSurvival of Motor Neuron 2 ProteinAllelesExonsGenetic TestingHumansMutationSensitivity and SpecificitySequence Analysis, DNASMN1 protein, humanSMN2 protein, humanSurvival of Motor Neuron 1 ProteinSurvival of Motor Neuron 2 Protein

Identifiers

PMID40225149
PMCPMC11919053

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.