ReviewCurrent opinion in pediatrics2012
Genetics: advances in genetic testing for deafness.
Review in Current opinion in pediatrics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 55 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
55 citing papers in PubMed, 107 citations in OpenAlex.
- Genomic and Epigenomic Advances in Hearing Loss: Molecular Mechanisms, Diagnostics, and Emerging Therapies.Journal of personalized medicine · 2026Review
- Molecular Characterization of Syndromic Hearing Loss in North African Moroccan Families.Biomolecules · 2026Article
- Genetic and Environmental Factors Shaping Hearing Loss: Xenobiotics, Mechanisms and Translational Perspectives.Journal of xenobiotics · 2026Review
- Rare variants and founder effect in the Beauce region of Quebec.Communications biology · 2025Article
- The Importance of Newborn Genetic Screening for Early Identification of GJB2 and SLC26A4 Related Hearing Loss.Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery · 2025Article
- Bi-AllelicInternational journal of molecular sciences · 2025Article
- Effectiveness of Universal Newborn Hearing Screening at a Government Tertiary Health Care Centre in Central India: A Retrospective Study.Indian journal of otolaryngology and head and neck surgery : official publication of the Association of Otolaryngologists of India · 2025Article
- Delineating the Disease Boundaries: HomozygousMolecular syndromology · 2024Article
- Genetic Landscape of Hearing Loss in the Caribbean: A Narrative Review.Balkan medical journal · 2024Review
- Genetic heterogeneity in autosomal recessive hearing loss: a survey of Brazilian families.Frontiers in genetics · 2024Article
- Spectrum of genetic variants in bilateral sensorineural hearing loss.Frontiers in genetics · 2024Article
- Dispersed DNA variants underlie hearing loss in South Florida's minority population.Human genomics · 2023Article
- Article
- Identification of novel compound heterozygous mutations of the MYO15A gene with autosomal recessive non-syndromic hearing loss.Journal of clinical laboratory analysis · 2022Article
- Genetic etiology of hearing loss in Iran.Human genetics · 2022Review
- The noncoding genome and hearing loss.Human genetics · 2022Review
- Molecular etiology study of hearing loss in 13 Chinese Han families.Frontiers in neurology · 2022Article
- Compound Heterozygosity forAudiology research · 2021Article
- Targeted next-generation sequencing of deaf patients from Southwestern China.Molecular genetics & genomic medicine · 2021Article
- Variants encoding a restricted carboxy-terminal domain of SLC12A2 cause hereditary hearing loss in humans.PLoS genetics · 2020Article
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 1 institution in 1 country.
Funding
Abstract
purpose of reviewTo provide an update on recently discovered human deafness genes and to describe advances in comprehensive genetic testing platforms for deafness, both of which have been enabled by new massively parallel sequencing technologies. RECENT
findingsOver the review period, three syndromic and six nonsyndromic deafness genes have been discovered, bringing the total number of nonsyndromic deafness genes to 64. Four studies have shown the utility of massively parallel sequencing for comprehensive genetic testing for deafness. Three of these platforms have been released on a clinical or commercial basis. SUMMARY: Deafness is the most common sensory deficit in humans. Genetic diagnosis has traditionally been difficult due to extreme genetic heterogeneity and a lack of phenotypic variability. For these reasons, comprehensive genetic screening platforms have been developed with the use of massively parallel sequencing. These technologies are also accelerating the pace of gene discovery for deafness. Because genetic diagnosis is the basis for molecular therapies, these advances lay the foundation for the clinical care of deaf and hard-of-hearing persons in the future.
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.