Associated Papers
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
Exome Sequencing of 21 Bardet-Biedl Syndrome (BBS) Genes to Identify Obesity Variants in 6,851 American Indians.
Day SE et al.
Obesity (silver Spring, Md.), 2021
33616283 (PubMed )
Supplement: OBY-29-748-s001.xlsx › Table_S2
Prescreening whole exome sequencing results from patients with retinal degeneration for variants in genes associated with retinal degeneration.
Bryant L et al.
Clinical Ophthalmology (auckland, N.z.), 2018
Using variant databases for variant prioritization and to detect erroneous genotype-phenotype associations.
Broeckx BJG et al.
Bmc Bioinformatics, 2017
29191167 (PubMed )
Supplement: 12859_2017_1951_MOESM5_ESM.xls › Sheet1
Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders.
Tarailo-Graovac M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
28471432 (PubMed )
Supplement: gim201750x2.xlsx › TableS2B
Molecular Diagnosis of Inherited Retinal Diseases in Indigenous African Populations by Whole-Exome Sequencing.
Roberts L et al.
Investigative Ophthalmology & Visual Science, 2016
27898983 (PubMed )
Supplement: iovs-57-14-17_s03.xlsx › 226RetnetDATA2P6M6A0ORout
Structural basis for membrane targeting of the BBSome by ARL6.
Mourão A et al.
Nature Structural & Molecular Biology, 2014
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
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