ReviewAmerican journal of medical genetics. Part C, Seminars in medical genetics2017
New insights and advances in CHARGE syndrome: Diagnosis, etiologies, treatments, and research discoveries.
Review in American journal of medical genetics. Part C, Seminars in medical genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 41 papers, 1 of them a synthesis that pooled 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.
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
41 citing papers in PubMed, 1 synthesis or guideline pooled it, 76 citations in OpenAlex.
- Phenotypic characteristics and variability in CHARGE syndrome: a PRISMA compliant systematic review and meta-analysis.Journal of neurodevelopmental disorders · 2022Pooled it
- p53: from understanding its structure to advances in therapeutic targeting.Signal transduction and targeted therapy · 2026Review
- Generation of induced pluripotent stem cells from a patient with CHARGE syndrome with athymia, harboring a heterozygous mutation in CHD7.Stem cell research · 2026Article
- Congenital anomalies identified during early childhood in NICU infants with bilateral hearing loss: a multi-centre longitudinal cohort study.Frontiers in neuroscience · 2026Article
- CHARGE Syndrome Associated With Persistent Hyperplastic Primary Vitreous: A Case Report.Case reports in ophthalmological medicine · 2026Article
- Synthesizing the latest guideline-based recommendations for the management of female hypogonadism.Archives of endocrinology and metabolism · 2025Review
- CHD7 regulates definitive endodermal and mesodermal development from human embryonic stem cells.Stem cell research & therapy · 2025Article
- Coexistence of coloboma, heart defects, atresia choanae, growth retardation, genital abnormalities, and ear anomalies (CHARGE) syndrome and heterotaxy in a newborn with athymia.The journal of allergy and clinical immunology. Global · 2025Article
- Molecular and clinical aspects of histone-related disorders.Human genomics · 2025Review
- Genetic analysis of congenital unilateral renal agenesis in children based on next-generation sequencing.Pediatric research · 2025Article
- Case Report: Unveiling CHARGE syndrome: a neonatal case study with esophageal atresia and feeding difficulties.Frontiers in pediatrics · 2025Article
- Integrating genome and transcriptome analysis to decipher balanced structural variants in unsolved cases of neurodevelopmental disorders.Frontiers in genetics · 2025Article
- Systematic Ultrasound Evaluation of Olfactory Sulci in Fetuses with Congenital Heart Defects: A Clue for CHARGE Syndrome Diagnosis.Fetal diagnosis and therapy · 2025Article
- Genetic and Clinical Predictors of Hearing Loss Among Patients with CHARGE Syndrome.Journal of the American Academy of Audiology · 2025Article
- Application and insights of targeted next-generation sequencing in a large cohort of 46,XY disorders of sex development in Chinese.Biology of sex differences · 2024Article
- A feasible molecular diagnostic strategy for rare genetic disorders within resource-constrained environments.Journal of community genetics · 2024Article
- Article
- Giving Voice to Cardiovocal Syndrome: A 26-Year-Old Woman With Hypophonia and Dysphagia.Cureus · 2023Article
- Persistent Trigeminal Subtype of Internal Carotid Artery Agenesis in CHARGE Syndrome.Journal of clinical neurology (Seoul, Korea) · 2023Article
- CHARGE syndrome-associated CHD7 acts at ISL1-regulated enhancers to modulate second heart field gene expression.Cardiovascular research · 2023Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 2 institutions in 2 countries.
Funding
Abstract
CHARGE syndrome is a multiple congenital anomaly condition caused, in a majority of individuals, by loss of function pathogenic variants in the gene CHD7. In this special issue of the American Journal of Medical Genetics part C, authors of eleven manuscripts describe specific organ system features of CHARGE syndrome, with a focus on recent developments in diagnosis, etiologies, and treatments. Since 2004, when CHD7 was identified as the major causative gene in CHARGE, several animal models (mice, zebrafish, flies, and frog) and cell-based systems have been developed to explore the underlying pathophysiology of this condition. In this article, we summarize those advances, highlight opportunities for new discoveries, and encourage readers to explore specific organ systems in more detail in each individual article. We hope the excitement around innovative research and development in CHARGE syndrome will encourage others to join this effort, and will stimulate other investigators and professionals to engage with individuals diagnosed as having CHARGE syndrome, their families, and their care providers.
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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.