Associated Papers
Whole Genome Sequencing Solves an Atypical Form of Bardet-Biedl Syndrome: Identification of Novel Pathogenic Variants of BBS9.
Stellacci E et al.
International Journal of Molecular Sciences, 2024
Novel biallelic variant in BBS9 causative of Bardet-Biedl syndrome: expanding the spectrum of disease-causing genetic alterations.
Suárez-González J et al.
Bmc Medical Genomics, 2021
Molecular architecture of the Bardet-Biedl syndrome protein 2-7-9 subcomplex.
Ludlam WG et al.
The Journal of Biological Chemistry, 2019
Structural Characterization of Bardet-Biedl Syndrome 9 Protein (BBS9).
Knockenhauer KE et al.
The Journal of Biological Chemistry, 2015
Knockdown of Bardet-Biedl syndrome gene BBS9/PTHB1 leads to cilia defects.
Veleri S et al.
Plos One, 2012
BBS mutational analysis: a strategic approach.
Billingsley G et al.
Ophthalmic Genetics, 2011
21463199 (PubMed )
Supplement: supplement_1.pdf
Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene.
Nishimura DY et al.
American Journal of Human Genetics, 2005
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