ReviewAmerican journal of medical genetics. Part C, Seminars in medical genetics2017
Guidelines in CHARGE syndrome and the missing link: Cranial imaging.
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 24 papers.
What it found
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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.
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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.
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Who cites it
24 citing papers in PubMed, 47 citations in OpenAlex.
- Dental Management of a 9-Year-Old Child With Suspected CHARGE Syndrome: A Case Report and Brief Literature Review.Clinical case reports · 2026Article
- Mutation of CHD7 impairs the output of neuroepithelium transition that is reversed by the inhibition of EZH2.Molecular psychiatry · 2025Article
- Article
- [Expert consensus on auditory intervention and language rehabilitation of CHARGE syndrome].Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery · 2025Article
- Genetic and Clinical Predictors of Hearing Loss Among Patients with CHARGE Syndrome.Journal of the American Academy of Audiology · 2025Article
- Genetic landscape in undiagnosed patients with syndromic hearing loss revealed by whole exome sequencing and phenotype similarity search.Human genetics · 2025Article
- The overlapping of phenotypes in Wiedemann-Steiner, Kleefstra and Coffin-Siris syndromes: a study of eleven patients.Italian journal of pediatrics · 2024Article
- CHD7 regulates craniofacial cartilage development via controlling HTR2B expression.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2024Article
- Pervasive cortical and white matter anomalies in a mouse model for CHARGE syndrome.Journal of anatomy · 2023Article
- Characterization of Two MouseInternational journal of molecular sciences · 2022Article
- Epidemiology of Male Hypogonadism.Endocrinology and metabolism clinics of North America · 2022Review
- Phenotypic spectrum of patients with mutations in CHD7: clinical implications of endocrinological findings.Endocrine connections · 2022Article
- Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- Care of Children with DiGeorge Before and After Cultured Thymus Tissue Implantation.Journal of clinical immunology · 2021Article
- Article
- CHD7 promotes neural progenitor differentiation in embryonic stem cells via altered chromatin accessibility and nascent gene expression.Scientific reports · 2020Article
- CHARGE syndrome: genetic aspects and dental challenges, a review and case presentation.Head & face medicine · 2020Review
- Delayed Puberty-Phenotypic Diversity, Molecular Genetic Mechanisms, and Recent Discoveries.Endocrine reviews · 2019Review
- Feeding difficulty is the dominant feature in 12 Chinese newborns with CHD7 pathogenic variants.BMC medical genetics · 2019Observational
- A New Model for Congenital Vestibular Disorders.Journal of the Association for Research in Otolaryngology : JARO · 2019Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
"CHARGE syndrome" is a complex syndrome with high and extremely variable comorbidity. As a result, clinicians may struggle to provide accurate and comprehensive care, and this has led to the publication of several clinical surveillance guidelines and recommendations for CHARGE syndrome, based on both single case observations and cohort studies. Here we perform a structured literature review to examine all the existing advice. Our findings provide additional support for the validity of the recently published Trider checklist. We also identified a gap in literature when reviewing all guidelines and recommendations, and we propose a guideline for neuroradiological evaluation of patients with CHARGE syndrome. This is of importance, as patients with CHARGE are at risk for peri-anesthetic complications, making recurrent imaging procedures under anesthesia a particular risk in clinical practice. However, comprehensive cranial imaging is also of tremendous value for timely diagnosis, proper treatment of symptoms and for further research into CHARGE syndrome. We hope the guideline for neuroradiological evaluation will help clinicians provide efficient and comprehensive care for individuals with 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.