Evidence map›Paper›PMID 42650164›Full record

ArticleGenes2026

Molecular Genetic Diagnosis of Spinal Muscular Atrophy: Clinical Utility, Challenges, and Lessons Learned from Illustrative Cases in a Single Center.

Jinli Bai, Qinglin Jiang, Hui Jiao, Yuwei Jin, Hong Wang, Xiushan Ge, Ying Gao, Xiaoyin Peng, Fang Song, Yujin Qu and 1 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Genes, 2026. 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
–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

0 citing papers in PubMed.

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

11 authors.

Jinli BaiCapital Institute of Pediatrics-Peking University Teaching Hospital, Beijing 100020, China.
Qinglin JiangDepartment of Medical Genetics, Capital Center for Children's Health, Capital Medical University, Capital Institute of Pediatrics, Beijing 100020, China.
Hui JiaoDepartment of Neurology, Capital Center for Children's Health, Capital Medical University, Capital Institute of Pediatrics, Beijing 100020, China.
Yuwei JinDepartment of Medical Genetics, Capital Center for Children's Health, Capital Medical University, Capital Institute of Pediatrics, Beijing 100020, China.
Hong WangDepartment of Medical Genetics, Capital Center for Children's Health, Capital Medical University, Capital Institute of Pediatrics, Beijing 100020, China.
Xiushan GeDepartment of Neurology, Capital Center for Children's Health, Capital Medical University, Capital Institute of Pediatrics, Beijing 100020, China.
Ying GaoDepartment of Dermatology, Capital Center for Children's Health, Capital Medical University, Capital Institute of Pediatrics, Beijing 100020, China.
Xiaoyin PengDepartment of Neurology, Capital Center for Children's Health, Capital Medical University, Capital Institute of Pediatrics, Beijing 100020, China.
Fang SongDepartment of Medical Genetics, Capital Center for Children's Health, Capital Medical University, Capital Institute of Pediatrics, Beijing 100020, China.
Yujin QuDepartment of Medical Genetics, Capital Center for Children's Health, Capital Medical University, Capital Institute of Pediatrics, Beijing 100020, China.ORCID 0000-0003-2959-3754
Mei DiaoCapital Institute of Pediatrics-Peking University Teaching Hospital, Beijing 100020, China.

Funding

Beijing Finance Bureau 11000024T000002831273Natural Science Foundation of Beijing Municipality L212035, 7212005Research Foundation of Capital Institute of Pediatrics JCYJ-2023-03
6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

Molecular Diagnostic TechniquesMuscular Atrophy, SpinalSurvival of Motor Neuron 1 ProteinChildChild, PreschoolDNA Copy Number VariationsFemaleHumansInfantMaleSMN1 protein, humanSurvival of Motor Neuron 1 Proteinallele-specific long-range PCR (AS-LR-PCR)compound heterozygous variantsgenetic testinglong-range PCRlong-read sequencing (LRS)multiplex ligation-dependent probe amplification (MLPA)spinal muscular atrophyultra-long-read sequencing (Ultra-LRS)

Identifiers

PMID42650164
PMCPMC13511791

What Socratic holds

Textmetadata
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 Socratic graph.