Evidence map›Paper›PMID 37745854›Full record

ArticleFrontiers in genetics2023

Combination of trio-based whole exome sequencing and optical genome mapping reveals a cryptic balanced translocation that causes unbalanced chromosomal rearrangements in a family with multiple anomalies.

Min Xie, Jiangyang Xue, Yuxin Zhang, Ying Zhou, Qi Yu, Haibo Li, Qiong Li

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing 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

4 citing papers in PubMed.

  1. Article
  2. [Application of optical genome mapping technology in the genetic diagnosis of a family with a cryptic complex chromosomal balanced translocations].Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences · 2026
    Article
  3. Review
  4. 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.

Min Xie *The Central Laboratory of Birth Defects Prevention and Control, Ningbo Women and Children's Hospital, Ningbo, Zhejiang, China.
Jiangyang Xue *The Central Laboratory of Birth Defects Prevention and Control, Ningbo Women and Children's Hospital, Ningbo, Zhejiang, China.
Yuxin ZhangThe Central Laboratory of Birth Defects Prevention and Control, Ningbo Women and Children's Hospital, Ningbo, Zhejiang, China.
Ying ZhouThe Central Laboratory of Birth Defects Prevention and Control, Ningbo Women and Children's Hospital, Ningbo, Zhejiang, China.
Qi YuNeonatal Screening Center, Ningbo Women and Children's Hospital, Ningbo, Zhejiang, China.
Haibo LiThe Central Laboratory of Birth Defects Prevention and Control, Ningbo Women and Children's Hospital, Ningbo, Zhejiang, China.
Qiong LiNeonatal Screening Center, Ningbo Women and Children's Hospital, Ningbo, Zhejiang, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

case reportcryptic balanced translocationmultiple anomaliesoptical genome mappingunbalanced chromosomal rearrangements

Identifiers

PMID37745854
PMCPMC10512417

What OpenQuestion holds

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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.