Associated Papers
Variants in the AGBL5 gene are responsible for autosomal recessive Retinitis pigmentosa with hearing loss.
Karali M et al.
European Journal of Human Genetics : Ejhg, 2025
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
38584274 (PubMed )
Supplement: 13073_2024_1307_MOESM1_ESM.xlsx › Table_S3
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM10_ESM.xlsx › Sheet1
Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics.
Maddirevula S et al.
Genome Biology, 2020
32552793 (PubMed )
Supplement: 13059_2020_2053_MOESM4_ESM.xlsx › Table_S3
The combination of whole-exome sequencing and clinical analysis allows better diagnosis of rare syndromic retinal dystrophies.
Abu Diab A et al.
Acta Ophthalmologica, 2019
Establishing the involvement of the novel gene AGBL5 in retinitis pigmentosa by whole genome sequencing.
Branham K et al.
Physiological Genomics, 2016
Mutations in AGBL5, Encoding α-Tubulin Deglutamylase, Are Associated With Autosomal Recessive Retinitis Pigmentosa.
Astuti GD et al.
Investigative Ophthalmology & Visual Science, 2016
Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies.
Patel N et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016
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