Associated Papers
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric central nervous system tumors.
Corbett RJ et al.
Nature Communications, 2025
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric CNS tumors.
Corbett RJ 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
Novel multi-allelic variants, two BBS2 and one PKD1 variant, of renal ciliopathies: A case report and literature review.
Zhong F et al.
European Journal of Medical Genetics, 2023
Genetic analysis of patients with nonsyndromic and syndromic retinitis pigmentosa in Puerto Rico: a genetic legacy.
Vargas JG et al.
Ophthalmic Genetics, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Retinitis Pigmentosa in the Puerto Rican Population: A Geographic Distribution.
Santos DF et al.
Clinical Ophthalmology (auckland, N.z.), 2022
Compound Heterozygous Mutations in the BBS-1 Gene and its Clinical Presentation: A Case Report.
Michelen-Gómez E et al.
Puerto Rico Health Sciences Journal, 2021
A Genotype-Phenotype Analysis of the Bardet-Biedl Syndrome in Puerto Rico.
Guardiola GA et al.
Clinical Ophthalmology (auckland, N.z.), 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
BBS7 is required for BBSome formation and its absence in mice results in Bardet-Biedl syndrome phenotypes and selective abnormalities in membrane protein trafficking.
Zhang Q et al.
Journal of Cell Science, 2013
Intrinsic protein-protein interaction-mediated and chaperonin-assisted sequential assembly of stable bardet-biedl syndrome protein complex, the BBSome.
Zhang Q et al.
The Journal of Biological Chemistry, 2012
Direct role of Bardet-Biedl syndrome proteins in transcriptional regulation.
Gascue C et al.
Journal of Cell Science, 2012
BBS mutational analysis: a strategic approach.
Billingsley G et al.
Ophthalmic Genetics, 2011
Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome.
Zaghloul NA et al.
Proceedings of the National Academy of Sciences of the United States of America, 2010
A novel mutation in BBS7 gene causes Bardet-Biedl syndrome in a Chinese family.
Yang Z et al.
Molecular Vision, 2008
The oligogenic properties of Bardet-Biedl syndrome.
Katsanis N
Human Molecular Genetics, 2004
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
Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2.
Badano JL et al.
American Journal of Human Genetics, 2003