Evidence map›Paper›PMID 41071877›Full record

ArticleScience advances2025

Loss-of-function variants in ciliary genes confer high risk for tetralogy of Fallot.

Yan Zhou, Tao Jiang, Jimiao Gao, Jie Zang, Xuming Mo, Shen Yue, Yiqiang Cui, Qiuye Wang, Min Da, Jing Xu and 10 more

Abstract read
In one paragraph

Article in Science advances, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing 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

5 citing papers in PubMed.

  1. Article
  2. Article
  3. Review
  4. Modelling Tetralogy of Fallot: insights and limitations of animal models.Frontiers in cell and developmental biology · 2026
    Review
  5. Identification of a NovelDiagnostics (Basel, Switzerland) · 2025
    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

20 authors.

Yan ZhouState Key Laboratory of Reproductive Medicine and Offspring Health, Nanjing Medical University, Nanjing, Jiangsu 211100, China.ORCID 0000-0001-5817-3965
Tao JiangState Key Laboratory of Reproductive Medicine and Offspring Health, Nanjing Medical University, Nanjing, Jiangsu 211100, China.ORCID 0000-0002-4722-1172
Jimiao GaoState Key Laboratory of Reproductive Medicine and Offspring Health, Nanjing Medical University, Nanjing, Jiangsu 211100, China.ORCID 0009-0009-1327-9550
Jie ZangState Key Laboratory of Reproductive Medicine and Offspring Health, Nanjing Medical University, Nanjing, Jiangsu 211100, China.
Xuming MoDepartment of Cardiothoracic Surgery, Children's Hospital of Nanjing Medical University, Nanjing, Jiangsu 210008, China.ORCID 0000-0002-2264-6123
Shen YueDepartment of Developmental Genetics, School of Basic Medical Sciences, Nanjing Medical University, Nanjing, Jiangsu 211100, China.ORCID 0000-0002-3194-1757
Yiqiang CuiState Key Laboratory of Reproductive Medicine and Offspring Health, Nanjing Medical University, Nanjing, Jiangsu 211100, China.ORCID 0000-0003-0553-061X
Qiuye WangState Key Laboratory of Reproductive Medicine and Offspring Health, Nanjing Medical University, Nanjing, Jiangsu 211100, China.
Min DaDepartment of Cardiothoracic Surgery, Children's Hospital of Nanjing Medical University, Nanjing, Jiangsu 210008, China.
Jing XuDepartment of Cardiology, The First Affiliated Hospital of Nanjing Medical University, Nanjing, Jiangsu 210029, China.
Qingguo LiDepartment of Cardiovascular Center, The Second Affiliated Hospital of Nanjing Medical University, Nanjing, Jiangsu, 210003, China.
Bin ShenState Key Laboratory of Reproductive Medicine and Offspring Health, Nanjing Medical University, Nanjing, Jiangsu 211100, China.ORCID 0000-0002-8946-8448
Juncheng DaiState Key Laboratory of Reproductive Medicine and Offspring Health, Nanjing Medical University, Nanjing, Jiangsu 211100, China.
Hongxia MaState Key Laboratory of Reproductive Medicine and Offspring Health, Nanjing Medical University, Nanjing, Jiangsu 211100, China.ORCID 0000-0002-9821-6955
Guangfu JinState Key Laboratory of Reproductive Medicine and Offspring Health, Nanjing Medical University, Nanjing, Jiangsu 211100, China.ORCID 0000-0003-0249-5337
Hongbing ShenState Key Laboratory of Reproductive Medicine and Offspring Health, Nanjing Medical University, Nanjing, Jiangsu 211100, China.ORCID 0000-0002-2581-5906
Cheng WangState Key Laboratory of Reproductive Medicine and Offspring Health, Nanjing Medical University, Nanjing, Jiangsu 211100, China.ORCID 0000-0002-8193-9276
Yayun GuState Key Laboratory of Reproductive Medicine and Offspring Health, Nanjing Medical University, Nanjing, Jiangsu 211100, China.ORCID 0000-0002-6893-311X
Yuan LinState Key Laboratory of Reproductive Medicine and Offspring Health, Nanjing Medical University, Nanjing, Jiangsu 211100, China.ORCID 0000-0001-8961-8971
Zhibin HuState Key Laboratory of Reproductive Medicine and Offspring Health, Nanjing Medical University, Nanjing, Jiangsu 211100, China.ORCID 0000-0002-8277-5234

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Tetralogy of Fallot (TOF), the most common severe cyanotic congenital heart disease, has unclear genetic causes. Through next-generation sequencing in 131 patients with nonsyndromic TOF, we identified an increased burden of rare deleterious variants in ciliary genes and cilium pathway and observed a multigenic inheritance pattern, with an odds ratio (OR) of 1.672 [95% confidence interval (CI), 1.120 to 2.547;

Indexed as

CiliaGenetic Predisposition to DiseaseLoss of Function MutationTetralogy of FallotAnimalsDisease Models, AnimalFemaleGATA4 Transcription FactorHedgehog ProteinsHigh-Throughput Nucleotide SequencingHomeobox Protein Nkx-2.5HumansMaleMiceMyocytes, CardiacPhenotypeGATA4 protein, humanGATA4 Transcription FactorHedgehog ProteinsHomeobox Protein Nkx-2.5NKX2-5 protein, human

Identifiers

PMID41071877
PMCPMC12513439

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.