Associated Papers
Truncating mutations in BBS10 and BBS12 impair proteostasis and ciliary architecture in Bardet-Biedl Syndrome.
Liu X et al.
Experimental Eye Research, 2025
Clinical and genetic landscape of IRD in Portugal: pooled data from the nationwide IRD-PT registry.
Marta A et al.
Npj Genomic Medicine, 2025
Expanding the Mutation Spectrum for Inherited Retinal Diseases.
Lynn J et al.
Genes, 2024
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
Real-World Results from Combined Screening for Monogenic Genomic Health Risks and Reproductive Risks in 300 Adults.
Wildin RS et al.
Journal of Personalized Medicine, 2022
Allelic overload and its clinical modifier effect in Bardet-Biedl syndrome.
Perea-Romero I et al.
Npj Genomic Medicine, 2022
Bardet-Biedl syndrome: The pleiotropic role of the chaperonin-like BBS6, 10, and 12 proteins.
Gupta N et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2022
Comparative Natural History of Visual Function From Patients With Biallelic Variants in BBS1 and BBS10.
Grudzinska Pechhacker MK et al.
Investigative Ophthalmology & Visual Science, 2021
Bardet-Biedl syndrome and related disorders in Japan.
Hirano M et al.
Journal of Human Genetics, 2020
Beyond Panel-Based Testing: Exome Analysis Increases Sensitivity for Diagnosis of Genetic Kidney Disease.
Wilson PC et al.
Kidney360, 2020
Mutation profile of BBS genes in patients with Bardet-Biedl syndrome: an Italian study.
Manara E et al.
Italian Journal of Pediatrics, 2019
Identification of candidate cancer predisposing variants by performing whole-exome sequencing on index patients from BRCA1 and BRCA2-negative breast cancer families.
Shahi RB et al.
Bmc Cancer, 2019
Rare variants in SOX17 are associated with pulmonary arterial hypertension with congenital heart disease.
Zhu N et al.
Genome Medicine, 2018
The genomic landscape of pediatric myelodysplastic syndromes.
Schwartz JR et al.
Nature Communications, 2017
A novel BBS10 mutation identified in a patient with Bardet-Biedl syndrome with a violent emotional outbreak.
Ohto T et al.
Human Genome Variation, 2017
Retinal Diseases Caused by Mutations in Genes Not Specifically Associated with the Clinical Diagnosis.
Wang X et al.
Plos One, 2016
Syndromic and non-syndromic forms of retinitis pigmentosa: a comprehensive Italian clinical and molecular study reveals new mutations.
Pierrottet CO et al.
Genetics and Molecular Research : Gmr, 2014
Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes.
Chen J et al.
Investigative Ophthalmology & Visual Science, 2011