Associated Papers
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.
Abolhassani A et al.
Npj Genomic Medicine, 2024
38374194 (PubMed )
Supplement: 41525_2024_393_MOESM3_ESM.xlsx › Supplementary_Table_2
Exome sequencing in a Romanian Bardet-Biedl syndrome cohort revealed an overabundance of causal BBS12 variants.
Khan S et al.
American Journal of Medical Genetics. Part A, 2023
Ophthalmic and Genetic Features of Bardet Biedl Syndrome in a German Cohort.
Nasser F et al.
Genes, 2022
35886001 (PubMed )
Supplement: genes-13-01218-s001.zip › Supplementary_Tables_S1-S3.pdf
Targeted multi-gene panel testing for the diagnosis of Bardet Biedl syndrome: Identification of nine novel mutations across BBS1, BBS2, BBS4, BBS7, BBS9, BBS10 genes.
Ece Solmaz A et al.
European Journal of Medical Genetics, 2015
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