Associated Papers
Syndromic forms of inherited retinal dystrophies: a comprehensive molecular diagnosis of consanguineous Pakistani families using capture panel sequencing.
Asghar A et al.
Molecular Vision, 2025
Phenotypic diversity observed in a Chinese patient cohort with biallelic variants in Bardet-Biedl syndrome genes.
Zhong J et al.
Eye (london, England), 2023
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
The genetic landscape of inherited retinal dystrophies in Arabs.
Jaffal L et al.
Bmc Medical Genomics, 2023
Delineating the Spectrum of Genetic Variants Associated with Bardet-Biedl Syndrome in Consanguineous Pakistani Pedigrees.
Rao AR et al.
Genes, 2023
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
Structure and activation mechanism of the BBSome membrane protein trafficking complex.
Singh SK et al.
Elife, 2020
Extensive genic and allelic heterogeneity underlying inherited retinal dystrophies in Mexican patients molecularly analyzed by next-generation sequencing.
Zenteno JC et al.
Molecular Genetics & Genomic Medicine, 2020
Alternative Splicing Shapes the Phenotype of a Mutation in BBS8 To Cause Nonsyndromic Retinitis Pigmentosa.
Murphy D et al.
Molecular and Cellular Biology, 2015
Retinal dystrophies, genomic applications in diagnosis and prospects for therapy.
Nash BM et al.
Translational Pediatrics, 2015
Phenotypic variability of Bardet-Biedl syndrome: focusing on the kidney.
Putoux A et al.
Pediatric Nephrology (berlin, Germany), 2012
Bardet-Biedl syndrome 3 (Bbs3) knockout mouse model reveals common BBS-associated phenotypes and Bbs3 unique phenotypes.
Zhang Q et al.
Proceedings of the National Academy of Sciences of the United States of America, 2011
BBS mutational analysis: a strategic approach.
Billingsley G et al.
Ophthalmic Genetics, 2011
Functional analysis of BBS3 A89V that results in non-syndromic retinal degeneration.
Pretorius PR et al.
Human Molecular Genetics, 2011
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
Molecular characterization of retinitis pigmentosa in Saudi Arabia.
Aldahmesh MA et al.
Molecular Vision, 2009