Associated Papers
Mutation profile of Bardet-Biedl syndrome patients from India: Implicative role of multiallelic rare variants and oligogenic inheritance pattern.
Gnanasekaran H et al.
Clinical Genetics, 2023
WGS Revealed Novel BBS5 Pathogenic Variants, Missed by WES, Causing Ciliary Structure and Function Defects.
Karam A et al.
International Journal of Molecular Sciences, 2023
Novel splicing variant c. 208+2T>C in BBS5 segregates with Bardet-Biedl syndrome in an Iranian family by targeted exome sequencing.
Imani S et al.
Bioscience Reports, 2019
Screening for mutation hotspots in Bardet-Biedl syndrome patients from India.
Chandrasekar SP et al.
The Indian Journal of Medical Research, 2018
BBS mutational analysis: a strategic approach.
Billingsley G et al.
Ophthalmic Genetics, 2011
21463199 (PubMed )
Supplement: supplement_1.pdf
Novel mutations in BBS5 highlight the importance of this gene in non-Caucasian Bardet-Biedl syndrome patients.
Hjortshøj TD et al.
American Journal of Medical Genetics. Part A, 2008
Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene.
Li JB et al.
Cell, 2004
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