Associated Papers
The Clinical and Mutational Spectrum of Bardet-Biedl Syndrome in Saudi Arabia.
Milibari D et al.
Genes, 2024
High prevalence of Bardet-Biedl syndrome in La Réunion Island is due to a founder variant in ARL6/BBS3.
Gouronc A et al.
Clinical Genetics, 2020
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
Characterizing the morbid genome of ciliopathies.
Shaheen R et al.
Genome Biology, 2016
27894351 (PubMed )
Supplement: 13059_2016_1099_MOESM2_ESM.xlsx › Sheet1
In search of triallelism in Bardet-Biedl syndrome.
Abu-Safieh L et al.
European Journal of Human Genetics : Ejhg, 2012
BBS mutational analysis: a strategic approach.
Billingsley G et al.
Ophthalmic Genetics, 2011
21463199 (PubMed )
Supplement: supplement_1.pdf
Clinical and molecular characterisation of Bardet-Biedl syndrome in consanguineous populations: the power of homozygosity mapping.
Abu Safieh L et al.
Journal of Medical Genetics, 2010
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