Associated Papers
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Plos Genetics, 2025
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Modelling renal defects in Bardet-Biedl syndrome patients using human iPS cells.
Williams J et al.
Frontiers in Cell and Developmental Biology, 2023
Ophthalmic and Genetic Features of Bardet Biedl Syndrome in a German Cohort.
Nasser F et al.
Genes, 2022
A Missense Variant in the Bardet-Biedl Syndrome 2 Gene (BBS2) Leads to a Novel Syndromic Retinal Degeneration in the Shetland Sheepdog.
Hitti-Malin RJ et al.
Genes, 2021
Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations.
Zampaglione E et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Structure and activation mechanism of the BBSome membrane protein trafficking complex.
Singh SK et al.
Elife, 2020
Molecular architecture of the Bardet-Biedl syndrome protein 2-7-9 subcomplex.
Ludlam WG et al.
The Journal of Biological Chemistry, 2019
Nonsyndromic Retinitis Pigmentosa in the Ashkenazi Jewish Population: Genetic and Clinical Aspects.
Kimchi A et al.
Ophthalmology, 2018
Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population.
Rivas MA et al.
Plos Genetics, 2018
Comprehensive population screening in the Ashkenazi Jewish population for recurrent disease-causing variants.
Shi L et al.
Clinical Genetics, 2017
Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing.
Consugar MB et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2015
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
Association between missense mutations in the BBS2 gene and nonsyndromic retinitis pigmentosa.
Shevach E et al.
Jama Ophthalmology, 2015
Carrier frequency of two BBS2 mutations in the Ashkenazi population.
Fedick A et al.
Clinical Genetics, 2014
Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing.
Watson CM et al.
Plos One, 2014
BBS mutational analysis: a strategic approach.
Billingsley G et al.
Ophthalmic 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