ReviewGenetics research2015
Whole-exome sequencing and its impact in hereditary hearing loss.
Review in Genetics research, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 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.
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
30 citing papers in PubMed, 54 citations in OpenAlex.
- Investigation of Targeted Genes and Identification of Novel Variants with Next Generation Sequencing Method in Hearing Loss.The journal of international advanced otology · 2024Article
- The Segregation of p.Arg68Ter-Genes · 2024Article
- Genetic heterogeneity in autosomal recessive hearing loss: a survey of Brazilian families.Frontiers in genetics · 2024Article
- A novel recessive mutation in OXR1 is identified in patient with hearing loss recapitulated by the knockdown zebrafish.Human molecular genetics · 2023Article
- Exome sequencing identifies novel variants associated with non-syndromic hearing loss in the Iranian population.PloS one · 2023Article
- Induced Pluripotent Stem Cells, a Stepping Stone to In Vitro Human Models of Hearing Loss.Cells · 2022Review
- Article
- Mutations inProceedings of the National Academy of Sciences of the United States of America · 2022Article
- Exome sequencing of families from Ghana reveals known and candidate hearing impairment genes.Communications biology · 2022Article
- Exome sequencing utility in defining the genetic landscape of hearing loss and novel-gene discovery in Iran.Clinical genetics · 2021Article
- Article
- Hearing Screening Combined with Target Gene Panel Testing Increased Etiological Diagnostic Yield in Deaf Children.Neural plasticity · 2021Article
- Identification of a novel mutation in CRYM in a Chinese family with hearing loss using whole-exome sequencing.Experimental and therapeutic medicine · 2020Article
- Extrusion pump ABCC1 was first linked with nonsyndromic hearing loss in humans by stepwise genetic analysis.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- Identification of novel variants in MYO15A, OTOF, and RDX with hearing loss by next-generation sequencing.Molecular genetics & genomic medicine · 2019Article
- AUDIOME: a tiered exome sequencing-based comprehensive gene panel for the diagnosis of heterogeneous nonsyndromic sensorineural hearing loss.Genetics in medicine : official journal of the American College of Medical Genetics · 2018Article
- A novel nonsense mutation in MYO15A is associated with non-syndromic hearing loss: a case report.BMC medical genetics · 2018Article
- Identification of a rare COCH mutation by whole-exome sequencing : Implications for personalized therapeutic rehabilitation in an Austrian family with non-syndromic autosomal dominant late-onset hearing loss.Wiener klinische Wochenschrift · 2018Article
- A Novel Variant inBalkan medical journal · 2018Article
- [Molecular Understanding of Hearing - How Does This Matter to the Hearing Impaired?]Laryngo- rhino- otologie · 2018Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 2 institutions in 2 countries.
Funding
Abstract
Next-generation sequencing (NGS) technologies have played a central role in the genetic revolution. These technologies, especially whole-exome sequencing, have become the primary tool of geneticists to identify the causative DNA variants in Mendelian disorders, including hereditary deafness. Current research estimates that 1% of all human genes have a function in hearing. To date, mutations in over 80 genes have been reported to cause nonsyndromic hearing loss (NSHL). Strikingly, more than a quarter of all known genes related to NSHL were discovered in the past 5 years via NGS technologies. In this article, we review recent developments in the usage of NGS for hereditary deafness, with an emphasis on whole-exome sequencing.
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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.