Evidence map›Paper›PMID 40136637›Full record

ArticleInternational journal of neonatal screening2025

Assessment of Long-Read Sequencing-Based Congenital Adrenal Hyperplasia Genotyping Assay for Newborns in Fujian, China.

Xudong Wang, Xingxiu Lu, Faming Zheng, Kun Lin, Minjuan Liao, Yi Dong, Tiantian Chen, Ying He, Mei Lu, Jing Chen and 2 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in International journal of neonatal screening, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing 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

3 citing papers in PubMed.

  1. Article
  2. Review
  3. 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

12 authors.

Xudong WangXiamen Newborn Screening Center, Department of Pediatrics, Women and Children's Hospital, School of Medicine, Xiamen University, Xiamen 361102, China.ORCID 0000-0002-3196-8933
Xingxiu LuUnited Diagnostic and Research Center for Clinical Genetics, School of Public Health, Xiamen University, Xiamen 361100, China.
Faming ZhengCenter of Neonatal Disease Screening, Quanzhou Maternity and Children's Hospital, Quanzhou 362000, China.
Kun LinPrenatal Diagnosis Center, The Affiliated Hospital of Putian University, Putian University, Putian 351100, China.
Minjuan LiaoLongyan Newborn Screening Center, The First Hospital of Longyan City, Longyan 364099, China.
Yi DongScreening Center of Neonatal Genetic Metabolic Disease, Ningde Maternity and Child Health Care Hospital, Ningde 352100, China.
Tiantian ChenZhangzhou Newborn Screening Center, Zhangzhou Maternity and Child Care Hospital, Zhangzhou 363000, China.
Ying HeXiamen Newborn Screening Center, Department of Pediatrics, Women and Children's Hospital, School of Medicine, Xiamen University, Xiamen 361102, China.
Mei LuDepartment of Pediatric Endocrinology, Women and Children's Hospital, School of Medicine, Xiamen University, Xiamen 361102, China.
Jing ChenDepartment of Pediatrics, Women and Children's Hospital, School of Medicine, Xiamen University, Xiamen 361102, China.ORCID 0000-0002-2451-5928
Yanfang LiXiamen Newborn Screening Center, Department of Pediatrics, Women and Children's Hospital, School of Medicine, Xiamen University, Xiamen 361102, China.
Yulin ZhouXiamen Newborn Screening Center, Department of Pediatrics, Women and Children's Hospital, School of Medicine, Xiamen University, Xiamen 361102, China.

Funding

Fujian Provincial Health Technology Project 2021CXB025General Science and Technology Project of Xiamen, China 3502Z20224014National Natural Science Foundation of China 82101824Xiamen Natural Science Foundation 3502Z20227296
6 · The paper itself

Abstract

Long-read sequencing (LRS) provides comprehensive genetic information, but research of LRS applied to congenital adrenal hyperplasia (CAH) newborn screening is limited. This study aimed to evaluate the clinical utility of LRS in genetic diagnosis and second-tier newborn screening. Neonates born between January 2017 and December 2022 in Fujian, China, were recruited for biochemical and LRS-based genetic screening assay. The LRS covers the entire gene regions and exon-intron boundary regions for

Indexed as

combined screening strategycongenital adrenal hyperplasialong-read sequencingnewborn screeningsecond-tier screening

Identifiers

PMID40136637
PMCPMC11942758

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.