Associated Papers
WGS Revealed Novel BBS5 Pathogenic Variants, Missed by WES, Causing Ciliary Structure and Function Defects.
Karam A et al.
International Journal of Molecular Sciences, 2023
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
36896423 (PubMed )
Supplement: Table1.XLSX › Supplementary_Table_1
Allelic overload and its clinical modifier effect in Bardet-Biedl syndrome.
Perea-Romero I et al.
Npj Genomic Medicine, 2022
NGS and phenotypic ontology-based approaches increase the diagnostic yield in syndromic retinal diseases.
Perea-Romero I et al.
Human Genetics, 2021
34448047 (PubMed )
Supplement: 439_2021_2343_MOESM2_ESM.xlsx › Suppl_Table_S7
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
An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.
Famiglietti ML et al.
Database : the Journal of Biological Databases and Curation, 2019
30937429 (PubMed )
Supplement: famiglietti_supplementarytables1_rev_baz040.xlsx › common
Morphogenetic defects underlie Superior Coloboma, a newly identified closure disorder of the dorsal eye.
Hocking JC et al.
Plos Genetics, 2018
29522511 (PubMed )
Supplement: pgen.1007246.s002.xlsx › Sheet1
Whole exome sequencing in Finnish families identifies new candidate genes for osteoarthritis.
Skarp S et al.
Plos One, 2018
30157244 (PubMed )
Supplement: pone.0203313.s001.xlsx › Family8_SNPs
Exome Pool-Seq in neurodevelopmental disorders.
Popp B et al.
European Journal of Human Genetics : Ejhg, 2017
29158550 (PubMed )
Supplement: 41431_2017_22_MOESM6_ESM.xlsx › splicing
A Splice Variant of Bardet-Biedl Syndrome 5 (BBS5) Protein that Is Selectively Expressed in Retina.
Bolch SN et al.
Plos One, 2016
Novel mutations in BBS5 highlight the importance of this gene in non-Caucasian Bardet-Biedl syndrome patients.
Hjortshøj TD et al.
American Journal of Medical Genetics. Part A, 2008
Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene.
Li JB et al.
Cell, 2004
Select a paper to view details