ArticleGenes2025
The Spectra of Pathogenic Variants and Phenotypes in a Chinese Cohort of 298 Families with Osteogenesis Imperfecta.
Abstract read
In one paragraph
Article in Genes, 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
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.
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.
Who cites it
3 citing papers in PubMed.
- Molecular and clinical findings in Osteogenesis Imperfecta: A cohort study from a single tertiary center.Northern clinics of Istanbul · 2026Article
- 21 novel pathogenic variants identified in a cohort of 77 Chinese families with osteogenesis imperfecta.Frontiers in genetics · 2026Article
- Comprehensive Bibliometric Assessment of the Top 50 Cited Articles on Osteogenesis Imperfecta.Orthopedic reviews · 2025Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
15 authors.
Siji ZhouState Key Laboratory for Complex, Severe, and Rare Diseases, Department of Medical Genetics, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences, School of Basic Medicine, Peking Union Medical College, 5# Dongdan San Tiao, Beijing 100005, China.
Xiuzhi RenKey Laboratory in Science and Technology Development Project of Suzhou (CN), Pediatric Orthopedics, Children's Hospital of Soochow University, No. 92 Zhongnan Street, Suzhou Industrial Park, Suzhou 215025, China.
Yixuan CaoState Key Laboratory for Complex, Severe, and Rare Diseases, Department of Medical Genetics, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences, School of Basic Medicine, Peking Union Medical College, 5# Dongdan San Tiao, Beijing 100005, China.ORCID 0000-0002-6025-637X
Huan MiState Key Laboratory for Complex, Severe, and Rare Diseases, Department of Medical Genetics, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences, School of Basic Medicine, Peking Union Medical College, 5# Dongdan San Tiao, Beijing 100005, China.
Mingchen HanState Key Laboratory for Complex, Severe, and Rare Diseases, Department of Medical Genetics, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences, School of Basic Medicine, Peking Union Medical College, 5# Dongdan San Tiao, Beijing 100005, China.
Lulu LiState Key Laboratory for Complex, Severe, and Rare Diseases, Department of Medical Genetics, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences, School of Basic Medicine, Peking Union Medical College, 5# Dongdan San Tiao, Beijing 100005, China.
Chendan JiangState Key Laboratory for Complex, Severe, and Rare Diseases, Department of Medical Genetics, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences, School of Basic Medicine, Peking Union Medical College, 5# Dongdan San Tiao, Beijing 100005, China.
Yuqian YeState Key Laboratory for Complex, Severe, and Rare Diseases, Department of Medical Genetics, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences, School of Basic Medicine, Peking Union Medical College, 5# Dongdan San Tiao, Beijing 100005, China.
Chaoqun ZhengState Key Laboratory for Complex, Severe, and Rare Diseases, Department of Medical Genetics, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences, School of Basic Medicine, Peking Union Medical College, 5# Dongdan San Tiao, Beijing 100005, China.
Binshan ZhaoState Key Laboratory for Complex, Severe, and Rare Diseases, Department of Medical Genetics, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences, School of Basic Medicine, Peking Union Medical College, 5# Dongdan San Tiao, Beijing 100005, China.
Tao YangState Key Laboratory for Complex, Severe, and Rare Diseases, Department of Medical Genetics, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences, School of Basic Medicine, Peking Union Medical College, 5# Dongdan San Tiao, Beijing 100005, China.
Nan WuDepartment of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, 1 Shuai Fu Community, Dongcheng District, Beijing 100730, China.ORCID 0000-0002-9429-2889
Zhen LiDepartment of Stomatology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, 1 Shuai Fu Community, Dongcheng District, Beijing 100730, China.
Lingqian WuCenter for Medical Genetics, Hunan Key Laboratory of Medical Genetics & Hunan Key Laboratory of Animal Models for Human Diseases, School of Life Sciences, Central South University, No. 172 Tongzipo Road, Changsha 410017, China.ORCID 0000-0002-7070-5896
Xiuli ZhaoState Key Laboratory for Complex, Severe, and Rare Diseases, Department of Medical Genetics, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences, School of Basic Medicine, Peking Union Medical College, 5# Dongdan San Tiao, Beijing 100005, China.ORCID 0000-0001-8238-6311
Funding
CAMS Innovation Fund for Medical Sciences 2021-I2M-1-051, 2021-I2M-1-053, 2016-I2M-3-003National Key Research and Development Program of China 2022YFC2703700
Abstract
PubMed holds no abstract for this paper.
Indexed as
East Asian PeopleOsteogenesis ImperfectaAdolescentAdultChildChild, PreschoolChinaCohort StudiesFemaleGenetic Association StudiesHigh-Throughput Nucleotide SequencingHumansInfantMaleMiddle AgedMutationChinese cohortclinical phenotypesgenotype–phenotype correlationosteogenesis imperfectavariant spectrum
Identifiers
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.