Associated Papers
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 2025
18-Years of single-centre DNA testing in over 7000 index cases with inherited retinal dystrophies and optic neuropathies.
Kiel C et al.
Scientific Reports, 2024
The genetic landscape of inherited retinal dystrophies in Arabs.
Jaffal L et al.
Bmc Medical Genomics, 2023
Allelic overload and its clinical modifier effect in Bardet-Biedl syndrome.
Perea-Romero I et al.
Npj Genomic Medicine, 2022
Ophthalmic and Genetic Features of Bardet Biedl Syndrome in a German Cohort.
Nasser F et al.
Genes, 2022
Clinical and genetic spectrums of 413 North African families with inherited retinal dystrophies and optic neuropathies.
Bouzidi A et al.
Orphanet Journal of Rare Diseases, 2022
Clinical utility of genetic testing in 201 preschool children with inherited eye disorders.
Lenassi E et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations.
Van Schil K et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
VaRank: a simple and powerful tool for ranking genetic variants.
Geoffroy V et al.
Peerj, 2015
Bardet-Biedl syndrome proteins 1 and 3 regulate the ciliary trafficking of polycystic kidney disease 1 protein.
Su X et al.
Human Molecular Genetics, 2014
Clinical and genetic characterization of Bardet-Biedl syndrome in Tunisia: defining a strategy for molecular diagnosis.
M'hamdi O et al.
Clinical Genetics, 2014
Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromes.
Redin C et al.
Journal of Medical Genetics, 2012
BBS mutational analysis: a strategic approach.
Billingsley G et al.
Ophthalmic Genetics, 2011
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum.
Davis EE et al.
Nature Genetics, 2011
Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals.
Janssen S et al.
Human Genetics, 2011
Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease.
Muller J et al.
Human Genetics, 2010
[Treacher-Collins syndrome: clinical and genetic aspects apropos of 4 cases of which 1 is familial].
Chaabouni M et al.
La Tunisie Medicale, 2007
Screening of the eight BBS genes in Tunisian families: no evidence of triallelism.
Smaoui N et al.
Investigative Ophthalmology & Visual Science, 2006
Further support for digenic inheritance in Bardet-Biedl syndrome.
Fauser S et al.
Journal of Medical Genetics, 2003
Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome.
Beales PL et al.
American Journal of Human Genetics, 2003