ReviewAmerican journal of medical genetics. Part A2010
Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome.
Review in American journal of medical genetics. Part A, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 152 papers.
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
152 citing papers in PubMed, 303 citations in OpenAlex.
- Article
- Evaluation of cochlear angular orientation in patients with CHARGE syndrome.European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery · 2026Article
- Molecular Acrobats: How CHD Remodelers Shape the Genetic Playground to License Cell Identity.BioEssays : news and reviews in molecular, cellular and developmental biology · 2026Review
- Differential Transcriptome Analysis of Intrauterine UPD6pat Fetuses With Distinct Phenotypes.Molecular genetics & genomic medicine · 2026Article
- Chd7 regulates lipid metabolism and swim bladder inflation in zebrafish.Journal of lipid research · 2026Article
- Multi-omic analyses identify molecular targets of Chd7 that contribute to CHARGE syndrome model phenotypes.Disease models & mechanisms · 2026Article
- AAmerican journal of translational research · 2026Article
- Exploring the molecular basis of microphthalmia and anophthalmia: Insights from an Egyptian cohort.Molecular vision · 2026Article
- Chromodomain helicase DNA-binding proteins and orofacial cleft.Journal of research in medical sciences : the official journal of Isfahan University of Medical Sciences · 2026Review
- Esophageal Atresia and Intrathoracic Stomach in a Complex Case of Congenital Anomalies.Children (Basel, Switzerland) · 2025Article
- CHD7 regulates definitive endodermal and mesodermal development from human embryonic stem cells.Stem cell research & therapy · 2025Article
- Sculptors of cerebellar fissures and their potential as therapeutic targets for cerebellar dysfunction.Frontiers in cellular neuroscience · 2025Review
- Case Report: Unveiling CHARGE syndrome: a neonatal case study with esophageal atresia and feeding difficulties.Frontiers in pediatrics · 2025Article
- Genetic and Clinical Predictors of Hearing Loss Among Patients with CHARGE Syndrome.Journal of the American Academy of Audiology · 2025Article
- Cooperative role of LSD1 and CHD7 in regulating differentiation of mouse embryonic stem cells.Scientific reports · 2024Article
- [CHARGE syndrome in a neonate].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2024Article
- CHARGE syndrome in a child with aClinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology · 2024Article
- Chromatin remodeller Chd7 is developmentally regulated in the neural crest by tissue-specific transcription factors.PLoS biology · 2024Article
- Advance and Application of Single-cell Transcriptomics in Auditory Research.Neuroscience bulletin · 2024Review
- Zebrafish Congenital Heart Disease Models: Opportunities and Challenges.International journal of molecular sciences · 2024Review
92 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 2 institutions in 1 country.
Funding
Abstract
CHARGE syndrome [coloboma of the eye, heart defects, atresia of the choanae, retardation of growth and/or development, genital and/or urinary abnormalities, and ear abnormalities (including deafness)] is a genetic disorder characterized by a specific and a recognizable pattern of anomalies. De novo mutations in the gene encoding chromodomain helicase DNA binding protein 7 (CHD7) are the major cause of CHARGE syndrome. Here, we review the clinical features of 379 CHARGE patients who tested positive or negative for mutations in CHD7. We found that CHARGE individuals with CHD7 mutations more commonly have ocular colobomas, temporal bone anomalies (semicircular canal hypoplasia/dysplasia), and facial nerve paralysis compared with mutation negative individuals. We also highlight recent genetic and genomic studies that have provided functional insights into CHD7 and the pathogenesis of CHARGE syndrome.
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Registered trials
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.