Exome sequencing identifies mutations in LZTFL1, a BBSome and smoothened trafficking regulator, in a family with Bardet-Biedl syndrome with situs inversus and insertional polydactyly
Marion V, Stutzmann F, Gerard M et al. Exome sequencing identifies mutations in LZTFL1, a BBSome and smoothened trafficking regulator, in a family with Bardet-Biedl syndrome with situs inversus and insertional polydactyly. J Med Genet 2012: 49: 317-321.
Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18). J Med Genet (in press)
Scheidecker S, Etard C, Pierce NW et al. Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18). J Med Genet (in press).
Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease
Muller J, Stoetzel C, Vincent MC et al. Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease. Hum Genet 2010: 127: 583-593.
BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus
Stoetzel C, Laurier V, Davis EE et al. BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus. Nat Genet 2006: 38(5): 521-524.
Arrayed primer extension technology simplifies mutation detection in Bardet-Biedl and Alström syndrome
Pereiro I, Hoskins BE, Marshall JD et al. Arrayed primer extension technology simplifies mutation detection in Bardet-Biedl and Alström syndrome. Eur J Hum Genet 2011: 19(4): 485-488.
New mutations in BBS genes in small consanguineous families with Bardet-Biedl syndrome: detection of candidate regions by homozygosity mapping
Pereiro I, Valverde D, Piñeiro-Gallego T et al. New mutations in BBS genes in small consanguineous families with Bardet-Biedl syndrome: detection of candidate regions by homozygosity mapping. Mol Vis 2010: 16: 137-143.
Bardet-Biedl syndrome in Denmark-report of 13 novel sequence variations in six genes
Hjortshøj TD, Grønskov K, Philp AR et al. Bardet-Biedl syndrome in Denmark-report of 13 novel sequence variations in six genes. Hum Mutat 2010: 31(4): 429-436.
Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population
Billingsley G, Bin J, Fieggen KJ et al. Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population. J Med Genet 2010: 47: 453-463.
