Evidence map›Paper›PMID 41005306›Full record

ArticleCell genomics2026

Genetic landscape of human oocyte/embryo defects.

Biaobang Chen, Weijie Wang, Juanzi Shi, Xiaoxi Sun, Yichun Guan, Guimin Hao, Junli Zhao, Jian Mu, Zhihua Zhang, Fangzhou Xu and 31 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Cell genomics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing 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

8 citing papers in PubMed.

  1. Article
  2. Article
  3. Translating genetic testing into fertility care.Science China. Life sciences · 2026
    Article
  4. Article
  5. Article
  6. Review
  7. Article
  8. A novel homozygousFrontiers in genetics · 2026
    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

41 authors.

Biaobang ChenInstitute of Pediatrics, Children's Hospital of Fudan University, The Institutes of Biomedical Sciences, State Key Laboratory of Genetic Engineering, Fudan University, Shanghai, China; NHC Key Lab of Reproduction Regulation, Shanghai Institute for Biomedical and Pharmaceutical Technologies, Shanghai, China.
Weijie WangThe International Peace Maternity and Child Health Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
Juanzi ShiReproductive Medicine Center, Northwest Women's and Children's Hospital, Xi'an, Shaanxi, China.
Xiaoxi SunShanghai Ji Ai Genetics and In Vitro Fertilization Institute, Obstetrics and Gynecology Hospital, Fudan University, Shanghai, China.
Yichun GuanCenter for Reproductive Medicine, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan, China.
Guimin HaoHebei Clinical Research Center for Birth Defects, Department of Reproductive Medicine, The Second Hospital of Hebei Medical University, Shijiazhuang, Hebei, China.
Junli ZhaoReproductive Medicine Center, General Hospital of Ningxia Medical University, Yinchuan, Ningxia, China.
Jian MuInstitute of Pediatrics, Children's Hospital of Fudan University, The Institutes of Biomedical Sciences, State Key Laboratory of Genetic Engineering, Fudan University, Shanghai, China.
Zhihua ZhangInstitute of Pediatrics, Children's Hospital of Fudan University, The Institutes of Biomedical Sciences, State Key Laboratory of Genetic Engineering, Fudan University, Shanghai, China.
Fangzhou XuInstitute of Pediatrics, Children's Hospital of Fudan University, The Institutes of Biomedical Sciences, State Key Laboratory of Genetic Engineering, Fudan University, Shanghai, China.
Dengying GaoInstitute of Pediatrics, Children's Hospital of Fudan University, The Institutes of Biomedical Sciences, State Key Laboratory of Genetic Engineering, Fudan University, Shanghai, China.
Zhiqi PanInstitute of Pediatrics, Children's Hospital of Fudan University, The Institutes of Biomedical Sciences, State Key Laboratory of Genetic Engineering, Fudan University, Shanghai, China.
Ran YuInstitute of Pediatrics, Children's Hospital of Fudan University, The Institutes of Biomedical Sciences, State Key Laboratory of Genetic Engineering, Fudan University, Shanghai, China.
Hao GuInstitute of Pediatrics, Children's Hospital of Fudan University, The Institutes of Biomedical Sciences, State Key Laboratory of Genetic Engineering, Fudan University, Shanghai, China.
Huizhen FanInstitute of Pediatrics, Children's Hospital of Fudan University, The Institutes of Biomedical Sciences, State Key Laboratory of Genetic Engineering, Fudan University, Shanghai, China.
Yuxi LuoInstitute of Pediatrics, Children's Hospital of Fudan University, The Institutes of Biomedical Sciences, State Key Laboratory of Genetic Engineering, Fudan University, Shanghai, China.
Siyuan XieInstitute of Pediatrics, Children's Hospital of Fudan University, The Institutes of Biomedical Sciences, State Key Laboratory of Genetic Engineering, Fudan University, Shanghai, China.
Xingzhu DuInstitute of Pediatrics, Children's Hospital of Fudan University, The Institutes of Biomedical Sciences, State Key Laboratory of Genetic Engineering, Fudan University, Shanghai, China.
Huixia JingInstitute of Pediatrics, Children's Hospital of Fudan University, The Institutes of Biomedical Sciences, State Key Laboratory of Genetic Engineering, Fudan University, Shanghai, China.
Zhiqi YeInstitute of Pediatrics, Children's Hospital of Fudan University, The Institutes of Biomedical Sciences, State Key Laboratory of Genetic Engineering, Fudan University, Shanghai, China.
Xuelin ZhangInstitute of Pediatrics, Children's Hospital of Fudan University, The Institutes of Biomedical Sciences, State Key Laboratory of Genetic Engineering, Fudan University, Shanghai, China.
Ruiqi HaiInstitute of Pediatrics, Children's Hospital of Fudan University, The Institutes of Biomedical Sciences, State Key Laboratory of Genetic Engineering, Fudan University, Shanghai, China.
Hongying ZhuInstitute of Pediatrics, Children's Hospital of Fudan University, The Institutes of Biomedical Sciences, State Key Laboratory of Genetic Engineering, Fudan University, Shanghai, China.
Tianyu WuInstitute of Pediatrics, Children's Hospital of Fudan University, The Institutes of Biomedical Sciences, State Key Laboratory of Genetic Engineering, Fudan University, Shanghai, China.
Qiaoli LiInstitute of Pediatrics, Children's Hospital of Fudan University, The Institutes of Biomedical Sciences, State Key Laboratory of Genetic Engineering, Fudan University, Shanghai, China.
Jing FuShanghai Ji Ai Genetics and In Vitro Fertilization Institute, Obstetrics and Gynecology Hospital, Fudan University, Shanghai, China.
Ling WuDepartment of Assisted Reproduction, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Wenjing WangReproductive Medicine Center, Zhongshan Hospital of Fudan University, Shanghai, China.
Chunyi LiShenyang Jinghua Hospital, Shenyang, Liaoning, China.
Feiyang DiaoReproductive Medicine Center, Jiangsu Province Hospital, Nanjing, Jiangsu, China.
Qiuwen ShiReproductive Medicine Center, The Third Affiliated Hospital, Guangxi Medical University, Nanning, Guangxi, China.
Lin LiKey Laboratory of Human Reproduction and Genetics, Department of Reproductive Medicine, Nanchang Reproductive Hospital, Nanchang, Jiangxi, China.
Shiru XuFertility Center, Shenzhen Zhongshan Urology Hospital, Shenzhen, Guangdong, China.
Da LiDepartment of Obstetrics and Gynecology, Center of Reproductive Medicine, Shengjing Hospital, China Medical University, Shenyang, Liaoning, China.
Xi DongReproductive Medicine Center, Zhongshan Hospital of Fudan University, Shanghai, China.
Peng XuHainan Jinghua Hejing Hospital for Reproductive Medicine, Haikou, Hainan, China.
Jiucun WangState Key Laboratory of Genetic Engineering, School of Life Sciences, Human Phenome Institute, Zhangjiang Fudan International Innovation Center, Fudan University, Shanghai, China.
Lin HeBio-X Center, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders, Ministry of Education, Shanghai Jiao Tong University, Shanghai, China.
Yanping KuangDepartment of Assisted Reproduction, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China. Electronic address: kuangyanp@126.com.
Qing SangInstitute of Pediatrics, Children's Hospital of Fudan University, The Institutes of Biomedical Sciences, State Key Laboratory of Genetic Engineering, Fudan University, Shanghai, China. Electronic address: sangqing@fudan.edu.cn.
Lei WangInstitute of Pediatrics, Children's Hospital of Fudan University, The Institutes of Biomedical Sciences, State Key Laboratory of Genetic Engineering, Fudan University, Shanghai, China; Shanghai Academy of Natural Sciences (SANS), Fudan University, Shanghai, China. Electronic address: wangleiwanglei@fudan.edu.cn.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Oocyte/embryo defects can result in oocyte maturation arrest, fertilization failure, embryonic arrest, and infertility as well as recurrent in vitro fertilization (IVF) or intracytoplasmic sperm injection (ICSI) failures. However, the genetic determinants of human oocyte/embryo defects remain largely unknown, and the overall genetic diagnostic yield for such defects has not been evaluated. Here, we performed exome sequencing in 3,627 patients with oocyte/embryo defects. We identified a total of 479 positive cases carrying variants in 37 known genes, indicating a diagnostic yield of 13.2%. Case-control association studies combined with gene set enrichment analysis identified 123 novel candidate genes responsible for oocyte/embryo defects. These results provide a comprehensive genetic landscape of human oocyte/embryo defects and highlight the clinical significance of genetic counseling in infertile patients with oocyte/embryo defects. Our study will lay the foundation for transforming the traditional clinical practice for failed IVF/ICSI attempts into genetic-based precision and personalized treatment for these patients.

Indexed as

Embryo, MammalianOocytesAdultCase-Control StudiesExome SequencingFemaleFertilization in VitroHumansMaleSperm Injections, Intracytoplasmicexome sequencingfemale infertilitygenetic mutationsoocyte/embryo defects

Identifiers

PMID41005306
PMCPMC12926087

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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.