ArticleGenes2020
Autosomal Dominantly Inherited GREB1L Variants in Individuals with Profound Sensorineural Hearing Impairment.
Article in Genes, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 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.
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Who cites it
19 citing papers in PubMed, 40 citations in OpenAlex.
- Unveiling the Prevalence and Surgical Burden of Neurocristopathies: A Scoping Review and Statistical Analysis.Research square · 2026Article
- A Novel Epilepsy Phenotype in a Young Girl With a PathogenicJournal of child neurology · 2025Article
- Exome sequencing revealed a novel homozygous variant in TRMT61 A in a multiplex family with atypical Cornelia de Lange Syndrome from Rwanda.BMC medical genomics · 2025Article
- Human organoids for rapid validation of gene variants linked to cochlear malformations.Human genetics · 2025Article
- Human Organoids for Rapid Validation of Gene Variants Linked to Cochlear Malformations.Research square · 2024Article
- The expanded spectrum of human disease associated with GREB1L likely includes complex congenital heart disease.Prenatal diagnosis · 2024Article
- The Landscape of Point Mutations in Human Protein Coding Genes Leading to Pregnancy Loss.International journal of molecular sciences · 2023Review
- Rare variant enrichment analysis supportsHGG advances · 2023Article
- Autosomal Dominant Non-Syndromic Hearing Loss (DFNA): A Comprehensive Narrative Review.Biomedicines · 2023Review
- A novel missense mutation in GREB1L identified in a three-generation family with renal hypodysplasia/aplasia-3.Orphanet journal of rare diseases · 2022Article
- A novel autosomal dominant GREB1L variant associated with non-syndromic hearing impairment in Ghana.BMC medical genomics · 2022Article
- Genome Sequencing and Transcriptome Profiling in Twins Discordant for Mayer-Rokitansky-Küster-Hauser Syndrome.Journal of clinical medicine · 2022Article
- Genetics of Hearing Impairment.Genes · 2022Article
- Molecular genetic landscape of hereditary hearing loss in Pakistan.Human genetics · 2022Review
- Autosomal recessive nonsyndromic hearing impairment in two Finnish families due to the population enriched CABP2 c.637+1G>T variant.Molecular genetics & genomic medicine · 2022Article
- Major Contribution of GREB1L Alterations to Severe Inner Ear Malformation Largely in a Non-mendelian Fashion.Clinical and experimental otorhinolaryngology · 2022Article
- A novel variant inExperimental biology and medicine (Maywood, N.J.) · 2021Article
- Identification of Novel Candidate Genes and Variants for Hearing Loss and Temporal Bone Anomalies.Genes · 2021Article
- Bi-Allelic Novel Variants inGenes · 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
9 authors at 5 institutions in 4 countries.
Funding
Abstract
Congenital hearing impairment is a sensory disorder that is genetically highly heterogeneous. By performing exome sequencing in two families with congenital nonsyndromic profound sensorineural hearing loss (SNHL), we identified autosomal dominantly inherited missense variants [p.(Asn283Ser); p.(Thr116Ile)] 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.