ReviewCurrent opinion in pediatrics2016
Navigating genetic diagnostics in patients with hearing loss.
Review in Current opinion in pediatrics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 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
17 citing papers in PubMed, 39 citations in OpenAlex.
- Investigation of GSDME results in the identification of the first pathogenic synonymous variants and genotype-phenotype correlations.Human genetics · 2025Article
- Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.Human genetics · 2023Article
- Potential Role of Protein Kinase FAM20C on the Brain in Raine Syndrome, an In Silico Analysis.International journal of molecular sciences · 2023Article
- Assessing Variants of Uncertain Significance Implicated in Hearing Loss Using a Comprehensive Deafness Proteome.Research square · 2023Article
- Molecular diagnose of a large hearing loss population from China by targeted genome sequencing.Journal of human genetics · 2022Article
- Article
- Outcomes of Gene Panel Testing for Sensorineural Hearing Loss in a Diverse Patient Cohort.JAMA network open · 2022Article
- Target-Sequencing of Female Infertility Pathogenic Gene Panel and a Novel TUBB8 Loss-of-Function Mutation.Frontiers in genetics · 2022Article
- Milestones toward cochlear gene therapy for patients with hereditary hearing loss.Laryngoscope investigative otolaryngology · 2021Review
- Non-Syndromic Autosomal Dominant Hearing Loss: The First Italian Family Carrying a Mutation in theGenes · 2021Article
- Untangling the genomics of noise-induced hearing loss and tinnitus: Contributions of Mus musculus and Homo sapiens.The Journal of the Acoustical Society of America · 2019Review
- Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss.Human mutation · 2019Article
- Outlook and future of inner ear therapy.Hearing research · 2018Review
- Hereditary hearing loss SNP-microarray pilot study.BMC research notes · 2018Article
- ESRP1 Mutations Cause Hearing Loss due to Defects in Alternative Splicing that Disrupt Cochlear Development.Developmental cell · 2017Article
- Article
- Diagnosing and Preventing Hearing Loss in the Genomic Age.Trends in hearingReview
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 reviewIn the age of targeted genomic enrichment and massively parallel sequencing, there is no more efficient genetic testing method for the diagnosis of hereditary hearing loss. More clinical tests are on the market, which can make choosing good tests difficult. RECENT
findingsMore and larger comprehensive genetic studies in patients with hearing loss have been published recently. They remind us of the importance of looking for both single nucleotide variation and copy number variation in all genes implicated in nonsyndromic hearing loss. They also inform us of how a patient's history and phenotype provide essential information in the interpretation of genetic data. SUMMARY: Choosing the most comprehensive genetic test improves the chances of a genetic diagnosis and thereby impacts clinical care.
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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.