References

The dataBBaSe contains data used for the meta-analysis of genotype-phenotype associations in Bardet-Biedl syndrome. If you are using this database, please, consider citing our paper:

The individual participant data were collected from the following publications (as indicated in the „source“ column in the database):

• Abu-Safieh, L., Al-Anazi, S., Al-Abdi, L., Hashem, M., Alkuraya, H., Alamr, M., . . . Alkuraya, F. S. (2012). In search of triallelism in Bardet-Biedl syndrome. Eur J Hum Genet, 20(4), 420-427. [doi:10.1038/ejhg.2011.205]
• Abu Safieh, L., Aldahmesh, M. A., Shamseldin, H., Hashem, M., Shaheen, R., Alkuraya, H., . . . Alkuraya, F. S. (2010). Clinical and molecular characterisation of Bardet-Biedl syndrome in consanguineous populations: the power of homozygosity mapping. J Med Genet, 47(4), 236-241. [doi:10.1136/jmg.2009.070755]
• Agha, Z., Iqbal, Z., Azam, M., Hoefsloot, L. H., van Bokhoven, H., & Qamar, R. (2013). A novel homozygous 10 nucleotide deletion in BBS10 causes Bardet-Biedl syndrome in a Pakistani family. Gene, 519(1), 177-181. [doi:10.1016/j.gene.2013.01.047]
• Ajmal, M., Khan, M. I., Neveling, K., Tayyab, A., Jaffar, S., Sadeque, A., . . . Qamar, R. (2013). Exome sequencing identifies a novel and a recurrent BBS1 mutation in Pakistani families with Bardet-Biedl syndrome. Molecular Vision, 19, 644-653.
• Al-Hamed, M. H., van Lennep, C., Hynes, A. M., Chrystal, P., Eley, L., Al-Fadhly, F., . . . Sayer, J. A. (2014). Functional modelling of a novel mutation in BBS5. Cilia, 3(1), 3. [doi:10.1186/2046-2530-3-3]
• Alazami, A. M., Alshammari, M. J., Salih, M. A., Alzahrani, F., Hijazi, H., Seidahmed, M. Z., . . . Alkuraya, F. S. (2012). Molecular characterization of Joubert syndrome in Saudi Arabia. Hum Mutat, 33(10), 1423-1428. [doi:10.1002/humu.22134]
• Aldahmesh, M. A., Li, Y., Alhashem, A., Anazi, S., Alkuraya, H., Hashem, M., . . . Alkuraya, F. S. (2014). IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet-Biedl syndrome. Hum Mol Genet, 23(12), 3307-3315. [doi:10.1093/hmg/ddu044]
• Azari, A. A., Aleman, T. S., Cideciyan, A. V., Schwartz, S. B., Windsor, E. A., Sumaroka, A., . . . Jacobson, S. G. (2006). Retinal disease expression in Bardet-Biedl syndrome-1 (BBS1) is a spectrum from maculopathy to retina-wide degeneration. Invest Ophthalmol Vis Sci, 47(11), 5004-5010. [doi:10.1167/iovs.06-0517]
• Badano, J. L. (2003). Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus. Human Molecular Genetics, 12(14), 1651-1659. [doi:10.1093/hmg/ddg188]
• Baker, K., Northam, G. B., Chong, W. K., Banks, T., Beales, P., & Baldeweg, T. (2011). Neocortical and hippocampal volume loss in a human ciliopathy: A quantitative MRI study in Bardet-Biedl syndrome. Am J Med Genet A, 155A(1), 1-8. [doi:10.1002/ajmg.a.33773]
• Bee, Y. M., Chawla, M., & Zhao, Y. (2015). Whole Exome Sequencing Identifies a Novel and a Recurrent Mutation in BBS2 Gene in a Family with Bardet-Biedl Syndrome. Biomed Res Int, 2015, 524754. [doi:10.1155/2015/524754]
• Bennouna-Greene, V., Kremer, S., Stoetzel, C., Christmann, D., Schuster, C., Durand, M., . . . Dollfus, H. (2011). Hippocampal dysgenesis and variable neuropsychiatric phenotypes in patients with Bardet-Biedl syndrome underline complex CNS impact of primary cilia. Clin Genet, 80(6), 523-531. [doi:10.1111/j.1399-0004.2011.01688.x]
• Billingsley, G., Bin, J., Fieggen, K. J., Duncan, J. L., Gerth, C., Ogata, K., . . . Heon, E. (2010). Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population. J Med Genet, 47(7), 453-463. [doi:10.1136/jmg.2009.073205]
• Billingsley, G., Vincent, A., Deveault, C., & Heon, E. (2012). Mutational analysis of SDCCAG8 in Bardet-Biedl syndrome patients with renal involvement and absent polydactyly. Ophthalmic Genet, 33(3), 150-154. [doi:10.3109/13816810.2012.689411]
• Branfield Day, L., Quammie, C., Heon, E., Bhan, A., Batmanabane, V., Dai, T., & Kamath, B. M. (2016). Liver anomalies as a phenotype parameter of Bardet-Biedl syndrome. Clin Genet, 89(4), 507-509. [doi:10.1111/cge.12684]
• Braun, J. J., Noblet, V., Durand, M., Scheidecker, S., Zinetti-Bertschy, A., Foucher, J., . . . Kremer, S. (2014). Olfaction evaluation and correlation with brain atrophy in Bardet-Biedl syndrome. Clin Genet, 86(6), 521-529. [doi:10.1111/cge.12391]
• Bujakowska, K. M., Zhang, Q., Siemiatkowska, A. M., Liu, Q., Place, E., Falk, M. J., . . . Pierce, E. A. (2015). Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome. Hum Mol Genet, 24(1), 230-242. [doi:10.1093/hmg/ddu441]
• Castro-Sanchez, S., Alvarez-Satta, M., Corton, M., Guillen, E., Ayuso, C., & Valverde, D. (2015). Exploring genotype-phenotype relationships in Bardet-Biedl syndrome families. J Med Genet, 52(8), 503-513. [doi:10.1136/jmedgenet-2015-103099]
• Castro-Sanchez, S., Alvarez-Satta, M., Tohamy, M. A., Beltran, S., Derdak, S., & Valverde, D. (2017). Whole exome sequencing as a diagnostic tool for patients with ciliopathy-like phenotypes. PLoS One, 12(8), e0183081. [doi:10.1371/journal.pone.0183081]
• Cox, K. F., Kerr, N. C., Kedrov, M., Nishimura, D., Jennings, B. J., Stone, E. M., . . . Iannaccone, A. (2012). Phenotypic expression of Bardet-Biedl syndrome in patients homozygous for the common M390R mutation in the BBS1 gene. Vision Res, 75, 77-87. [doi:10.1016/j.visres.2012.08.005]
• Davies, R. J. (2018). Advancing our understanding of the ciliopathy, Bardet-Biedl Syndrome: an omics approach. (Doctoral), UCL (University College London), retrieved from [http://discovery.ucl.ac.uk/10041870/]. (available from discovery.ucl.ac.uk)
• Deveault, C., Billingsley, G., Duncan, J. L., Bin, J., Theal, R., Vincent, A., . . . Heon, E. (2011). BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition. Hum Mutat, 32(6), 610-619. [doi:10.1002/humu.21480]
• Ece Solmaz, A., Onay, H., Atik, T., Aykut, A., Cerrah Gunes, M., Ozalp Yuregir, O., . . . Ozkinay, F. (2015). Targeted multi-gene panel testing for the diagnosis of Bardet Biedl syndrome: Identification of nine novel mutations across BBS1, BBS2, BBS4, BBS7, BBS9, BBS10 genes. Eur J Med Genet, 58(12), 689-694. [doi:10.1016/j.ejmg.2015.10.011]
• Esposito, G., Testa, F., Zacchia, M., Crispo, A. A., Di Iorio, V., Capolongo, G., . . . Salvatore, F. (2017). Genetic characterization of Italian patients with Bardet-Biedl syndrome and correlation to ocular, renal and audio-vestibular phenotype: identification of eleven novel pathogenic sequence variants. BMC Medical Genetics, 18(1), 10. [doi:10.1186/s12881-017-0372-0]
• Estrada-Cuzcano, A., Koenekoop, R. K., Senechal, A., & et al. (2012). Bbs1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to bardet-biedl syndrome. Archives of Ophthalmology, 130(11), 1425-1432. [doi:10.1001/archophthalmol.2012.2434]
• Estrada-Cuzcano, A., Neveling, K., Kohl, S., Banin, E., Rotenstreich, Y., Sharon, D., . . . Cremers, F. P. (2012). Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement. Am J Hum Genet, 90(1), 102-109. [doi:10.1016/j.ajhg.2011.11.015]
• Fan, Y., Esmail, M. A., Ansley, S. J., Blacque, O. E., Boroevich, K., Ross, A. J., . . . Leroux, M. R. (2004). Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome. Nat Genet, 36(9), 989-993. [doi:10.1038/ng1414]
• Fattahi, Z., Rostami, P., Najmabadi, A., Mohseni, M., Kahrizi, K., Akbari, M. R., . . . Najmabadi, H. (2014). Mutation profile of BBS genes in Iranian patients with Bardet-Biedl syndrome: genetic characterization and report of nine novel mutations in five BBS genes. J Hum Genet, 59(7), 368-375. [doi:10.1038/jhg.2014.28]
• Fedick, A., Jalas, C., Abeliovich, D., Krakinovsky, Y., Ekstein, J., Ekstein, A., & Treff, N. R. (2013). Carrier frequency of two BBS2 mutations in the Ashkenazi population. Clinical Genetics, 85(6), 578-582. [doi:10.1111/cge.12231]
• Frank, V., Ortiz Brüchle, N., Mager, S., Frints, S. G. M., Bohring, A., du Bois, G., . . . Bergmann, C. (2007). Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel-Gruber syndrome. Human Mutation, 28(6), 638-639. [doi:10.1002/humu.9496]
• Gerth, C., Zawadzki, R. J., Werner, J. S., & Heon, E. (2008). Retinal morphology in patients with BBS1 and BBS10 related Bardet-Biedl Syndrome evaluated by Fourier-domain optical coherence tomography. Vision Res, 48(3), 392-399. [doi:10.1016/j.visres.2007.08.024]
• Ghadami, M., Tomita, H. A., Najafi, M. T., Damavandi, E., Farahvash, M. S., Yamada, K., . . . Niikawa, N. (2000). Bardet-Biedl syndrome type 3 in an Iranian family: clinical study and confirmation of disease localization. Am J Med Genet, 94(5), 433-437.
• González-del Pozo, M., Méndez-Vidal, C., Santoyo-Lopez, J., Vela-Boza, A., Bravo-Gil, N., Rueda, A., . . . Antiñolo, G. (2013). Deciphering intrafamilial phenotypic variability by exome sequencing in a Bardet–Biedl family. Molecular Genetics & Genomic Medicine, 2(2), 124-133. [doi:10.1002/mgg3.50]
• Harville, H. M., Held, S., Diaz-Font, A., Davis, E. E., Diplas, B. H., Lewis, R. A., . . . Hildebrandt, F. (2010). Identification of 11 novel mutations in eight BBS genes by high-resolution homozygosity mapping. J Med Genet, 47(4), 262-267. [doi:10.1136/jmg.2009.071365]
• Heon, E., Kim, G., Qin, S., Garrison, J. E., Tavares, E., Vincent, A., . . . Sheffield, V. C. (2016). Mutations in C8ORF37 cause Bardet Biedl syndrome (BBS21). Human Molecular Genetics, 25(11), 2283-2294. [doi:10.1093/hmg/ddw096]
• Hjortshoj, T. D., Gronskov, K., Brondum-Nielsen, K., & Rosenberg, T. (2009). A novel founder BBS1 mutation explains a unique high prevalence of Bardet-Biedl syndrome in the Faroe Islands. Br J Ophthalmol, 93(3), 409-413. [doi:10.1136/bjo.2007.131110]
• Hjortshoj, T. D., Gronskov, K., Philp, A. R., Nishimura, D. Y., Riise, R., Sheffield, V. C., . . . Brondum-Nielsen, K. (2010). Bardet-Biedl syndrome in Denmark–report of 13 novel sequence variations in six genes. Hum Mutat, 31(4), 429-436. [doi:10.1002/humu.21204]
• Hulleman, J. D., Nguyen, A., Ramprasad, V. L., Murugan, S., Gupta, R., Mahindrakar, A., . . . Mootha, V. V. (2016). A novel H395R mutation in MKKS/BBS6 causes retinitis pigmentosa and polydactyly without other findings of Bardet-Biedl or McKusick-Kaufman syndrome. Molecular Vision, 22, 73-81.
• Chaki, M., Hoefele, J., Allen, S. J., Ramaswami, G., Janssen, S., Bergmann, C., . . . Hildebrandt, F. (2011). Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies. Kidney Int, 80(11), 1239-1245. [doi:10.1038/ki.2011.284]
• Chul Yoon, S., Lee, H. j., Min Ko, J., Kang, H. G., Cheong, H. I., Yu, H., & Hyung Kim, J. (2014). Two siblings with Bardet-Biedl syndrome caused by mutations in BBS10 : the first case identified in Korea (Vol. 11).
• Iannaccone, A., Mykytyn, K., Persico, A. M., Searby, C. C., Baldi, A., Jablonski, M. M., & Sheffield, V. C. (2005). Clinical evidence of decreased olfaction in Bardet-Biedl syndrome caused by a deletion in the BBS4 gene. Am J Med Genet A, 132a(4), 343-346. [doi:10.1002/ajmg.a.30512]
• Innes, A. M., Boycott, K. M., Puffenberger, E. G., Redl, D., MacDonald, I. M., Chudley, A. E., . . . Parboosingh, J. S. (2010). A founder mutation in BBS2 is responsible for Bardet-Biedl syndrome in the Hutterite population: utility of SNP arrays in genetically heterogeneous disorders. Clinical Genetics, 78(5), 424-431. [doi:10.1111/j.1399-0004.2010.01481.x]
• Iurian, S. I., Arts, H. H., Brunner, H. G., & Fintina, D. (2015, 2015). Bardet-biedl Syndrome – Case Presentation.
• Janssen, S., Ramaswami, G., Davis, E. E., Hurd, T., Airik, R., Kasanuki, J. M., . . . Hildebrandt, F. (2011). Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals. Hum Genet, 129(1), 79-90. [doi:10.1007/s00439-010-0902-8]
• Kamme, C., Mayer, A. K., Strom, T. M., Andréasson, S., & Weisschuh, N. (2017). Genotype and Phenotype in an unusual form of Laurence–Moon–Bardet–Biedl syndrome. Acta Ophthalmologica, 95(3), e250-e252. [doi:10.1111/aos.13293]
• Katsanis, N., Ansley, S. J., Badano, J. L., Eichers, E. R., Lewis, R. A., Hoskins, B. E., . . . Lupski, J. R. (2001). Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder. Science, 293(5538), 2256-2259. [doi:10.1126/science.1063525]
• Katsanis, N., Beales, P. L., Woods, M. O., Lewis, R. A., Green, J. S., Parfrey, P. S., . . . Lupski, J. R. (2000). Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome. Nat Genet, 26(1), 67-70. [doi:10.1038/79201]
• Kerr, E. N., Bhan, A., & Héon, E. (2015). Exploration of the cognitive, adaptive and behavioral functioning of patients affected with Bardet–Biedl syndrome. Clinical Genetics, 89(4), 426-433. [doi:10.1111/cge.12614]
• Khan, A. O., Decker, E., Bachmann, N., Bolz, H. J., & Bergmann, C. (2016). C8orf37 is mutated in Bardet-Biedl syndrome and constitutes a locus allelic to non-syndromic retinal dystrophies. Ophthalmic Genet, 37(3), 290-293. [doi:10.3109/13816810.2015.1066830]
• Khan, S., Ullah, I., Irfanullah, Touseef, M., Basit, S., Khan, M. N., & Ahmad, W. (2013). Novel homozygous mutations in the genes ARL6 and BBS10 underlying Bardet-Biedl syndrome. Gene, 515(1), 84-88. [doi:10.1016/j.gene.2012.11.023]
• Khan, S. A., Muhammad, N., Khan, M. A., Kamal, A., Rehman, Z. U., & Khan, S. (2016). Genetics of human Bardet-Biedl syndrome, an updates. Clin Genet, 90(1), 3-15. [doi:10.1111/cge.12737]
• Laurier, V., Stoetzel, C., Muller, J., Thibault, C., Corbani, S., Jalkh, N., . . . Dollfus, H. (2006). Pitfalls of homozygosity mapping: an extended consanguineous Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism. Eur J Hum Genet, 14(11), 1195-1203. [doi:10.1038/sj.ejhg.5201688]
• Leitch, C. C., Zaghloul, N. A., Davis, E. E., Stoetzel, C., Diaz-Font, A., Rix, S., . . . Katsanis, N. (2008). Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome. Nat Genet, 40(4), 443-448. [doi:10.1038/ng.97]
• Lim, Elaine T., Liu, Yangfan P., Chan, Y., Tiinamaija, T., Käräjämäki, A., Madsen, E., . . . Daly, Mark J. (2014). A Novel Test for Recessive Contributions to Complex Diseases Implicates Bardet-Biedl Syndrome Gene BBS10 in Idiopathic Type 2 Diabetes and Obesity. The American Journal of Human Genetics, 95(5), 509-520. [doi:10.1016/j.ajhg.2014.09.015]
• Lindstrand, A., Davis, E. E., Carvalho, C. M., Pehlivan, D., Willer, J. R., Tsai, I. C., . . . Katsanis, N. (2014). Recurrent CNVs and SNVs at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome. Am J Hum Genet, 94(5), 745-754. [doi:10.1016/j.ajhg.2014.03.017]
• Lindstrand, A., Frangakis, S., Carvalho, Claudia M. B., Richardson, Ellen B., McFadden, Kelsey A., Willer, Jason R., . . . Katsanis, N. (2016). Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome. The American Journal of Human Genetics, 99(2), 318-336. [doi:10.1016/j.ajhg.2015.04.023]
• M’Hamdi, O., Redin, C., Stoetzel, C., Ouertani, I., Chaabouni, M., Maazoul, F., . . . Chaabouni, H. (2014). Clinical and genetic characterization of Bardet-Biedl syndrome in Tunisia: defining a strategy for molecular diagnosis. Clin Genet, 85(2), 172-177. [doi:10.1111/cge.12129]
• Maria, M., Lamers, I. J., Schmidts, M., Ajmal, M., Jaffar, S., Ullah, E., . . . Qamar, R. (2016). Genetic and clinical characterization of Pakistani families with Bardet-Biedl syndrome extends the genetic and phenotypic spectrum. Sci Rep, 6, 34764. [doi:10.1038/srep34764]
• Marion, V., Stutzmann, F., Gérard, M., De Melo, C., Schaefer, E., Claussmann, A., . . . Dollfus, H. (2012). Exome sequencing identifies mutations in <em>LZTFL1</em>, a BBSome and smoothened trafficking regulator, in a family with Bardet–Biedl syndrome with situs inversus and insertional polydactyly. Journal of Medical Genetics, 49(5), 317-321. [doi:10.1136/jmedgenet-2012-100737]
• Otto, E. A., Hurd, T. W., Airik, R., Chaki, M., Zhou, W., Stoetzel, C., . . . Hildebrandt, F. (2010). Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy. Nature Genetics, 42, 840. [doi:10.1038/ng.662]
• Pawlik, B., Mir, A., Iqbal, H., Li, Y., Nürnberg, G., Becker, C., . . . Wollnik, B. (2010). A Novel Familial <i>BBS12</i> Mutation Associated with a Mild Phenotype: Implications for Clinical and Molecular Diagnostic Strategies. Molecular Syndromology, 1(1), 27-34.
• Pereiro, I., Valverde, D., Pineiro-Gallego, T., Baiget, M., Borrego, S., Ayuso, C., . . . Nishimura, D. (2010). New mutations in BBS genes in small consanguineous families with Bardet-Biedl syndrome: detection of candidate regions by homozygosity mapping. Mol Vis, 16, 137-143.
• Phelps, I. G., Dempsey, J. C., Grout, M. E., Isabella, C. R., Tully, H. M., Doherty, D., & Bachmann-Gagescu, R. (2017). Interpreting the clinical significance of combined variants in multiple recessive disease genes: systematic investigation of Joubert syndrome yields little support for oligogenicity. Genetics In Medicine, 20, 223. [doi:10.1038/gim.2017.94]
• Qi, Z., Shen, Y., Fu, Q., Li, W., Yang, W., Xu, W., . . . Wang, H. (2017). Whole-exome sequencing identified compound heterozygous variants in MMKS in a Chinese pedigree with Bardet-Biedl syndrome. Sci China Life Sci, 60(7), 739-745. [doi:10.1007/s11427-017-9085-7]
• Rahner, N., Nuernberg, G., Finis, D., Nuernberg, P., & Royer-Pokora, B. (2016). A novel C8orf37 splice mutation and genotype-phenotype correlation for cone-rod dystrophy. Ophthalmic Genetics, 37(3), 294-300. [doi:10.3109/13816810.2015.1071408]
• Reiner, J., Pisani, L., Qiao, W., Singh, R., Yang, Y., Shi, L., . . . Scott, S. A. (2018). Cytogenomic identification and long-read single molecule real-time (SMRT) sequencing of a Bardet–Biedl Syndrome 9 (BBS9) deletion. npj Genomic Medicine, 3(1), 3. [doi:10.1038/s41525-017-0042-3]
• Riazuddin, S. A., Iqbal, M., Wang, Y., Masuda, T., Chen, Y., Bowne, S., . . . Katsanis, N. (2010). A Splice-Site Mutation in a Retina-Specific Exon of BBS8 Causes Nonsyndromic Retinitis Pigmentosa. The American Journal of Human Genetics, 86(5), 805-812. [doi:10.1016/j.ajhg.2010.04.001]
• Riise, R., Tornqvist, K., Wright, A. F., Mykytyn, K., & Sheffield, V. C. (2002). The phenotype in norwegian patients with bardet-biedl syndrome with mutations in the bbs4 gene. Archives of Ophthalmology, 120(10), 1364-1367. [doi:10.1001/archopht.120.10.1364]
• Sathya Priya, C., Sen, P., Umashankar, V., Gupta, N., Kabra, M., Kumaramanickavel, G., . . . Sripriya, S. (2015). Mutation spectrum in BBS genes guided by homozygosity mapping in an Indian cohort. Clin Genet, 87(2), 161-166. [doi:10.1111/cge.12342]
• Shaheen, R., Szymanska, K., Basu, B., Patel, N., Ewida, N., Faqeih, E., . . . Alkuraya, F. S. (2016). Characterizing the morbid genome of ciliopathies. Genome Biol, 17(1), 242. [doi:10.1186/s13059-016-1099-5]
• Shin, S. J., Kim, M., Chae, H., Kwon, A., Kim, Y., Kim, S. J., . . . Lee, S. (2015). Identification of Compound Heterozygous Mutations in the BBS7 Gene in a Korean Family with Bardet-Biedl Syndrome. Annals of Laboratory Medicine, 35(1), 181-184. [doi:10.3343/alm.2015.35.1.181]
• Schaefer, E., Durand, M., Stoetzel, C., Doray, B., Viville, B., Helle, S., . . . Dollfus, H. (2011). Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypes. Eur J Med Genet, 54(2), 157-160. [doi:10.1016/j.ejmg.2010.10.004]
• Schaefer, E., Lauer, J., Durand, M., Pelletier, V., Obringer, C., Claussmann, A., . . . Dollfus, H. (2014). Mesoaxial polydactyly is a major feature in Bardet-Biedl syndrome patients with LZTFL1 (BBS17) mutations. Clin Genet, 85(5), 476-481. [doi:10.1111/cge.12198]
• Schaefer, E., Stoetzel, C., Scheidecker, S., Geoffroy, V., Prasad, M. K., Redin, C., . . . Dollfus, H. (2016). Identification of a novel mutation confirms the implication of IFT172 (BBS20) in Bardet-Biedl syndrome. J Hum Genet, 61(5), 447-450. [doi:10.1038/jhg.2015.162]
• Schaefer, E., Zaloszyc, A., Lauer, J., Durand, M., Stutzmann, F., Perdomo-Trujillo, Y., . . . Dollfus, H. (2010). Mutations in SDCCAG8/NPHP10 Cause Bardet-Biedl Syndrome and Are Associated with Penetrant Renal Disease and Absent Polydactyly. Molecular Syndromology, 1(6), 273-281. [doi:10.1159/000331268]
• Scheidecker, S., Etard, C., Pierce, N. W., Geoffroy, V., Schaefer, E., Muller, J., . . . Dollfus, H. (2014). Exome sequencing of Bardet–Biedl syndrome patient identifies a null mutation in the BBSome subunit <em>BBIP1</em> (<em>BBS18</em>). Journal of Medical Genetics, 51(2), 132-136. [doi:10.1136/jmedgenet-2013-101785]
• Scheidecker, S., Hull, S., Perdomo, Y., Studer, F., Pelletier, V., Muller, J., . . . Dollfus, H. J. (2015). Predominantly Cone-System Dysfunction as Rare Form of Retinal Degeneration in Patients With Molecularly Confirmed Bardet-Biedl Syndrome. Am J Ophthalmol, 160(2), 364-372 e361. [doi:10.1016/j.ajo.2015.05.007]
• Suspitsin, E. N., Sokolenko, A. P., Lyazina, L. V., Preobrazhenskaya, E. V., Lepenchuk, A. Y., & Imyanitov, E. N. (2015). Exome Sequencing of a Family with Bardet-Biedl Syndrome Identifies the Common Russian Mutation c.1967_1968delTAinsC in <b><i>BBS7</i></b>. Molecular Syndromology, 6(2), 96-98.
• Suzuki, T., Miyake, N., Tsurusaki, Y., Okamoto, N., Alkindy, A., Inaba, A., . . . Matsumoto, N. (2016). Molecular genetic analysis of 30 families with Joubert syndrome. Clin Genet, 90(6), 526-535. [doi:10.1111/cge.12836]
• Ullah, A., Umair, M., Yousaf, M., Khan, S. A., Nazim-ud-din, M., Shah, K., . . . Ahmad, W. (2017). Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families. Molecular Vision, 23, 482-494.
• van Huet, R. A. C., Estrada-Cuzcano, A., Banin, E., Rotenstreich, Y., Hipp, S., Kohl, S., . . . Klevering, B. J. (2013). Clinical Characteristics of Rod and Cone Photoreceptor Dystrophies in Patients With Mutations in the C8orf37 Gene. Investigative Ophthalmology & Visual Science, 54(7), 4683-4690. [doi:10.1167/iovs.12-11439]
• White, D. R. A., Ganesh, A., Nishimura, D., Rattenberry, E., Ahmed, S., Smith, U. M., . . . Maher, E. R. (2006). Autozygosity mapping of Bardet–Biedl syndrome to 12q21.2 and confirmation of FLJ23560 as BBS10. European Journal Of Human Genetics, 15, 173. [doi:10.1038/sj.ejhg.5201736]
• Yamamura, T., Morisada, N., Nozu, K., Minamikawa, S., Ishimori, S., Toyoshima, D., . . . Iijima, K. (2017). Rare renal ciliopathies in non-consanguineous families that were identified by targeted resequencing. Clin Exp Nephrol, 21(1), 136-142. [doi:10.1007/s10157-016-1256-x]
• Yang, Z., Yang, Y., Zhao, P., Chen, K., Chen, B., Lin, Y., . . . Xia, Q. (2008). A novel mutation in BBS7 gene causes Bardet-Biedl syndrome in a Chinese family. Mol Vis, 14, 2304-2308.
• Young, T. L., Woods, M. O., Parfrey, P. S., Green, J. S., O’Leary, E., Hefferton, D., & Davidson, W. S. (1998). Canadian Bardet-Biedl syndrome family reduces the critical region of BBS3 (3p) and presents with a variable phenotype. Am J Med Genet, 78(5), 461-467.