Evidence map›Paper›PMID 40234029›Full record

ArticleGenome research2025

Common

Hao Zhu, Jiao Zhang, Soumya Rao, Matthew D Durbin, Ying Li, Ruirui Lang, Jiqiang Liu, Baichuan Xiao, Hailin Shan, Ziqiu Meng and 17 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Genome research, 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. Article
  3. Review
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

27 authors.

Hao ZhuSchool of Engineering Medicine, Beihang University, Beijing 100191, China.
Jiao ZhangPlastic Surgery Hospital, Chinese Academy of Medical Sciences, Beijing 100144, China.
Soumya RaoDepartment of Oral & Craniofacial Sciences, University of Missouri-Kansas City, Kansas City, Missouri 64108, USA.
Matthew D DurbinDepartment of Pediatrics, Herman B. Wells Center for Pediatric Research, Indiana University School of Medicine, Indianapolis, Indiana 46202, USA.
Ying LiDepartment of Otolaryngology-Head and Neck Surgery, Beijing Tongren Hospital, Capital Medical University, Beijing 100051, China.
Ruirui LangSchool of Engineering Medicine, Beihang University, Beijing 100191, China.
Jiqiang LiuSchool of Engineering Medicine, Beihang University, Beijing 100191, China.
Baichuan XiaoSchool of Engineering Medicine, Beihang University, Beijing 100191, China.
Hailin ShanSchool of Engineering Medicine, Beihang University, Beijing 100191, China.
Ziqiu MengSchool of Engineering Medicine, Beihang University, Beijing 100191, China.
Jinmo WangSchool of Engineering Medicine, Beihang University, Beijing 100191, China.
Xiaokai TangSchool of Engineering Medicine, Beihang University, Beijing 100191, China.
Zhenni ShiSchool of Engineering Medicine, Beihang University, Beijing 100191, China.
Liza L CoxDepartment of Oral & Craniofacial Sciences, University of Missouri-Kansas City, Kansas City, Missouri 64108, USA.
Shouqin ZhaoDepartment of Otolaryngology-Head and Neck Surgery, Beijing Tongren Hospital, Capital Medical University, Beijing 100051, China.
Stephanie M WareDepartment of Pediatrics, Herman B. Wells Center for Pediatric Research, Indiana University School of Medicine, Indianapolis, Indiana 46202, USA.
Tiong Y TanVictorian Clinical Genetics Service, Royal Children's Hospital and Department of Pediatrics, University of Melbourne, Victoria 3052, Australia.ORCID 0000-0001-8455-7778
Michelle de SilvaVictorian Clinical Genetics Service, Royal Children's Hospital and Department of Pediatrics, University of Melbourne, Victoria 3052, Australia.
Lyndon GallacherVictorian Clinical Genetics Service, Royal Children's Hospital and Department of Pediatrics, University of Melbourne, Victoria 3052, Australia.
Ting LiuDepartment of Ophthalmology, Daping Hospital, Army Medical University, Chongqing 400000, China.
Jie MiCenter for Non-Communicable Disease Management, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing 100045, China.
Changqing ZengBeijing Institute of Genomics, Chinese Academy of Sciences, Beijing 100101, China.
Hou-Feng ZhengCenter for Health and Data Science (CHDS), the Second Affiliated Hospital of Soochow University, Suzhou, Jiangsu 215004, China.
Qingguo ZhangPlastic Surgery Hospital, Chinese Academy of Medical Sciences, Beijing 100144, China.
Stylianos E AntonarakisDepartment of Genetic Medicine and Development, University of Geneva Medical Faculty, Geneva 1211, Switzerland; zhangyongbiao@buaa.edu.cn coxtc@umkc.edu stylianos.antonarakis@unige.ch.
Timothy C CoxDepartment of Oral & Craniofacial Sciences, University of Missouri-Kansas City, Kansas City, Missouri 64108, USA; zhangyongbiao@buaa.edu.cn coxtc@umkc.edu stylianos.antonarakis@unige.ch.
Yong-Biao ZhangSchool of Engineering Medicine, Beihang University, Beijing 100191, China; zhangyongbiao@buaa.edu.cn coxtc@umkc.edu stylianos.antonarakis@unige.ch.ORCID 0000-0002-2764-2148

Funding

Transcriptional regulation of cardiac morphogenesisP01HL134599 · NHLBI · INDIANA UNIVERSITY INDIANAPOLIS · PI WEINIAN SHOU · 2017 to 2026
$25.7M
"SHROOM3 is a Novel Cause of Congenital Heart Disease"K08HL148508 · NHLBI · INDIANA UNIVERSITY INDIANAPOLIS · PI DURBIN, MATTHEW D. · 2020 to 2024
$776k
NHLBI NIH HHS K08 HL148508NHLBI NIH HHS L40 HL149062NHLBI NIH HHS P01 HL134599
6 · The paper itself

Abstract

Pathogenic coding variants have been identified in thousands of genes, yet the mechanisms underlying the incomplete penetrance in individuals carrying these variants are poorly understood. In this study, in a cohort of 2009 craniofacial microsomia (CFM) patients of Chinese ancestry and 2625 Han Chinese controls, we identified multiple predicted pathogenic coding variants in

Indexed as

Goldenhar SyndromePenetranceAllelesAnimalsFemaleHaplotypesHumansMaleMicePhenotypePolymorphism, Single NucleotideQuantitative Trait Loci

Identifiers

PMID40234029
PMCPMC12047249

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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.