Associated Papers
A novel protein truncating mutation of TTC8 causes Bardet-Biedl Syndrome (BBS) in a Pakistani family.
Fatima S et al.
Genetics and Molecular Biology, 2026
Synonymous and non-synonymous variants at splice junctions can disrupt splicing and are frequently linked to disease associated loss of function genes.
Srinivasan S et al.
Bmc Genomics, 2025
Delineating the Spectrum of Genetic Variants Associated with Bardet-Biedl Syndrome in Consanguineous Pakistani Pedigrees.
Rao AR et al.
Genes, 2023
A missense mutation in TTC8/BBS8 affecting mRNA splicing in patients with non-syndromic retinitis pigmentosa.
Goyal S et al.
Molecular Genetics and Genomics : Mgg, 2022
Genetics of Inherited Retinal Diseases in Understudied Populations.
Kannabiran C et al.
Frontiers in Genetics, 2022
Deletion in the Bardet-Biedl Syndrome Gene TTC8 Results in a Syndromic Retinal Degeneration in Dogs.
Mäkeläinen S et al.
Genes, 2020
Bardet-Biedl syndrome-8 (BBS8) protein is crucial for the development of outer segments in photoreceptor neurons.
Dilan TL et al.
Human Molecular Genetics, 2018
Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families.
Ullah A et al.
Molecular Vision, 2017
Confirmation of TTC8 as a disease gene for nonsyndromic autosomal recessive retinitis pigmentosa (RP51).
Goyal S et al.
Clinical Genetics, 2016
Select a paper to view details