ArticleGenes2020
Bi-Allelic Novel Variants in
Article in Genes, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 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
14 citing papers in PubMed, 19 citations in OpenAlex.
- Exclusion of CLIC5 as a Candidate Gene and Identification of NEFM as a Possible Novel Gene Correlated With Autosomal Recessive Pure Cerebellar Ataxia in a Highly Consanguineous Family.Molecular genetics & genomic medicine · 2026Article
- Exome sequencing identifies known and candidate genes in hearing impairment in Cameroon.Communications medicine · 2026Article
- The c.644 G > A p.(Trp215*) founder variant in the CLIC5 gene causes progressive autosomal recessive deafness 103 (DFNB103) in Eastern Siberia.Journal of human genetics · 2026Article
- Large-scale audiometric phenotyping identifies distinct genes and pathways involved in hearing loss subtypes.Communications biology · 2025Article
- Identification of known and novel genetic variants in sensorineural hearing loss: insights from whole exome sequencing in Indian families.Molecular biology reports · 2025Article
- AAV gene therapy rescues hearing and balance in a model of CLIC5 deafness.EMBO molecular medicine · 2025Article
- Whole-exome sequencing reveals known and candidate genes for hearing impairment in Mali.HGG advances · 2025Article
- A novel role for the chloride intracellular channel protein Clic5 in ciliary function.Scientific reports · 2023Article
- A monoallelic variant in EYA1 is associated with Branchio-Otic syndrome in a Malian family.Molecular genetics & genomic medicine · 2022Article
- Genetics of Hearing Impairment.Genes · 2022Article
- Hearing loss in Africa: current genetic profile.Human genetics · 2022Review
- Cell-based analysis ofFrontiers in genetics · 2022Article
- Article
- Etiologies of Childhood Hearing Impairment in Schools for the Deaf in Mali.Frontiers in pediatrics · 2021Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
11 authors at 4 institutions in 4 countries.
Funding
Abstract
DNA samples from five members of a multiplex non-consanguineous Cameroonian family, segregating prelingual and progressive autosomal recessive non-syndromic sensorineural hearing impairment, underwent whole exome sequencing. We identified novel bi-allelic compound heterozygous pathogenic variants in
Indexed as
Identifiers
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.