Evidence map›Paper›PMID 42353815›Full record

ArticleGenes2026

Establishment of a New-Generation National Reference Material System for Fragile X Syndrome Using Targeted Long-Read Sequencing.

Mi Zhang, Wenxin Zhang, Fei Gao, Huiying Fang, Li Zhang, Yaning Qi, Wei Zhang, Peiwen Xu, Jie Li, Shoufang Qu

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

10 authors.

Mi ZhangNational Institutes for Food and Drug Control, Beijing 100050, China.
Wenxin ZhangNational Institutes for Food and Drug Control, Beijing 100050, China.
Fei GaoNational Institutes for Food and Drug Control, Beijing 100050, China.
Huiying FangBerry Genomics Corporation, Beijing 102200, China.ORCID 0009-0003-0189-4894
Li ZhangBerry Genomics Corporation, Beijing 102200, China.
Yaning QiNational Institutes for Food and Drug Control, Beijing 100050, China.
Wei ZhangNational Institutes for Food and Drug Control, Beijing 100050, China.
Peiwen XuState Key Laboratory of Reproductive Medicine and Offspring Health, Center for Reproductive Medicine, Shandong University, Jinan 250000, China.
Jie LiState Key Laboratory of Reproductive Medicine and Offspring Health, Center for Reproductive Medicine, Shandong University, Jinan 250000, China.
Shoufang QuNational Institutes for Food and Drug Control, Beijing 100050, China.

Funding

National Key Research and Development Program of China 2022YFC2703200National Key Research and Development Program of China 2022YFF1201903National Key Research and Development Program of China 2024YFC3406305
6 · The paper itself

Abstract

backgroundFragile X syndrome (FXS) is the most common monogenic cause of inherited intellectual disability and is primarily caused by CGG repeat expansion in the

methodsWe developed a targeted long-read sequencing assay for comprehensive

resultsThe tLRS-

conclusionsThis study successfully developed tLRS-

Indexed as

Fragile X Messenger Ribonucleoprotein 1Fragile X SyndromeHigh-Throughput Nucleotide SequencingHumansReference StandardsReproducibility of ResultsSequence Analysis, DNATrinucleotide Repeat ExpansionFMR1 protein, humanFragile X Messenger Ribonucleoprotein 1AGG interruptionsCGG repeatsfragile X syndromereference materialstargeted long-read sequencing

Identifiers

PMID42353815
PMCPMC13299665

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Registered trials

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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.