Associated Papers
Whole exome sequencing-based testing of adult epilepsy in a Polish population.
Mroczek M et al.
Neurologia I Neurochirurgia Polska, 2025
Computational and Structural Analysis to Assess the Pathogenicity of Bardet-Biedl Syndrome Related Missense Variants Identified in Bardet-Biedl Syndrome 10 Gene (BBS10).
Gupta N et al.
Acs Omega, 2022
36312387 (PubMed )
Supplement: ao2c04522_si_001.pdf
A comprehensive WGS-based pipeline for the identification of new candidate genes in inherited retinal dystrophies.
González-Del Pozo M et al.
Npj Genomic Medicine, 2022
35246562 (PubMed )
Supplement: 41525_2022_286_MOESM1_ESM.pdf
BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition.
Deveault C et al.
Human Mutation, 2011
Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population.
Billingsley G et al.
Journal of Medical Genetics, 2010
Select a paper to view details