GuidelineGenetics in medicine : official journal of the American College of Medical Genetics
Genetics Evaluation Guidelines for the Etiologic Diagnosis of Congenital Hearing Loss. Genetic Evaluation of Congenital Hearing Loss Expert Panel. ACMG statement.
Guideline in Genetics in medicine : official journal of the American College of Medical Genetics. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 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
35 citing papers in PubMed, 145 citations in OpenAlex.
- Position and Dimension of the Inner Ear in Midterm Fetuses.The journal of international advanced otology · 2025Article
- Mutation spectrum of hearing loss patients in Northwest China: Identification of 20 novel variants.Molecular genetics & genomic medicine · 2024Article
- Article
- Genetic testing hearing loss: The challenge of non syndromic mimics.International journal of pediatric otorhinolaryngology · 2021Article
- Identification of novel variants in Iranian consanguineous pedigrees with nonsyndromic hearing loss by next-generation sequencing.Journal of clinical laboratory analysis · 2020Article
- Article
- TBL1Y: a new gene involved in syndromic hearing loss.European journal of human genetics : EJHG · 2019Article
- A Novel Nonsense Mutation (c.414G>A; p.Trp138*) inFrontiers in genetics · 2019Article
- Monitoring neonates for ototoxicity.International journal of audiology · 2018Review
- The first case of NSHL by direct impression onIranian journal of basic medical sciences · 2018Article
- A novel de novoThe application of clinical genetics · 2018Article
- Diagnosis and Treatment of Congenital Sensorineural Hearing Loss.Current otorhinolaryngology reports · 2017Article
- Over-expression of myosin7A in cochlear hair cells of circling mice.Laboratory animal research · 2017Article
- Tauroursodeoxycholic acid prevents hearing loss and hair cell death in Cdh23(erl/erl) mice.Neuroscience · 2016Article
- Genetics: A New Frontier in Otology.Indian journal of otolaryngology and head and neck surgery : official publication of the Association of Otolaryngologists of India · 2016Article
- Screening of the SLC17A8 gene as a causative factor for autosomal dominant non-syndromic hearing loss in Koreans.BMC medical genetics · 2016Article
- Potential treatments for genetic hearing loss in humans: current conundrums.Gene therapy · 2015Review
- Deaf genetic testing and psychological well-being in deaf adults.Journal of genetic counseling · 2013Article
- Detection of the GJB2 Mutation in Iranian Children with Hearing Loss Treated with Cochlear Implantation.Balkan journal of medical genetics : BJMG · 2011Article
- Genetic Linkage Analysis of 15 DFNB Loci in a Group of Iranian Families with Autosomal Recessive Hearing Loss.Iranian journal of public health · 2011Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
1 author at 1 institution in 1 country.
Funding
Abstract
The advent of hearing screening in newborns in many states has led to an increase in the use of genetic testing and related genetic services in the follow-up of infants with hearing loss. A significant proportion of those with congenital hearing loss have genetic etiologies underlying their hearing loss. To ensure that those identified with congenital hearing loss receive the genetic services appropriate to their conditions, the Maternal and Child Health Bureau of the Health Resources and Services Administration funded the American College of Medical Genetics to convene an expert panel to develop guidelines for the genetic evaluation of congenital hearing loss. After a brief overview of the current knowledge of hearing loss, newborn screening, and newborn hearing screening, we provide an overview of genetic services and a guideline that describes how best to ensure that patients receive appropriate genetic services. The significant contribution of genetic factors to these conditions combined with the rapid evolution of knowledge about the genetics of these conditions overlaid with the inherently multidisciplinary nature of genetic services provides an example of a condition for which a well-integrated multidisciplinary approach to care is clearly needed.
Indexed as
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What OpenQuestion holds
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.