{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T16:00:54Z","timestamp":1791043254525,"version":"4.1.0"},"reference-count":48,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2010,10,30]],"date-time":"2010-10-30T00:00:00Z","timestamp":1288396800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Hum Genet"],"published-print":{"date-parts":[[2011,1]]},"DOI":"10.1007\/s00439-010-0902-8","type":"journal-article","created":{"date-parts":[[2010,11,3]],"date-time":"2010-11-03T09:00:41Z","timestamp":1288774841000},"page":"79-90","source":"Crossref","is-referenced-by-count":79,"title":["Mutation analysis in Bardet\u2013Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals"],"prefix":"10.1007","volume":"129","author":[{"given":"Sabine","family":"Janssen","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gokul","family":"Ramaswami","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erica E.","family":"Davis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Toby","family":"Hurd","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rannar","family":"Airik","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer M.","family":"Kasanuki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lauren","family":"Van Der Kraak","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan J.","family":"Allen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philip L.","family":"Beales","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicholas","family":"Katsanis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edgar A.","family":"Otto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Friedhelm","family":"Hildebrandt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2010,10,30]]},"reference":[{"key":"902_CR1","doi-asserted-by":"crossref","first-page":"628","DOI":"10.1038\/nature02030","volume":"425","author":"SJ Ansley","year":"2003","unstructured":"Ansley SJ, Badano JL, Blacque OE, Hill J, Hoskins BE, Leitch CC, Kim JC, Ross AJ, Eichers ER, Teslovich TM, Mah AK, Johnsen RC, Cavender JC, Lewis RA, Leroux MR, Beales PL, Katsanis N (2003) Basal body dysfunction is a likely cause of pleiotropic Bardet\u2013Biedl syndrome. Nature 425:628\u2013633","journal-title":"Nature"},{"key":"902_CR2","doi-asserted-by":"crossref","first-page":"650","DOI":"10.1086\/368204","volume":"72","author":"JL Badano","year":"2003","unstructured":"Badano JL, Ansley SJ, Leitch CC, Lewis RA, Lupski JR, Katsanis N (2003a) Identification of a novel Bardet\u2013Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2. Am J Hum Genet 72:650\u2013658","journal-title":"Am J Hum Genet"},{"key":"902_CR3","doi-asserted-by":"crossref","first-page":"1651","DOI":"10.1093\/hmg\/ddg188","volume":"12","author":"JL Badano","year":"2003","unstructured":"Badano JL, Kim JC, Hoskins BE, Lewis RA, Ansley SJ, Cutler DJ, Castellan C, Beales PL, Leroux MR, Katsanis N (2003b) Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet\u2013Biedl patients with two mutations at a second BBS locus. Hum Mol Genet 12:1651\u20131659","journal-title":"Hum Mol Genet"},{"key":"902_CR4","doi-asserted-by":"crossref","first-page":"326","DOI":"10.1038\/nature04370","volume":"439","author":"JL Badano","year":"2006","unstructured":"Badano JL, Leitch CC, Ansley SJ, May-Simera H, Lawson S, Lewis RA, Beales PL, Dietz HC, Fisher S, Katsanis N (2006) Dissection of epistasis in oligogenic Bardet\u2013Biedl syndrome. Nature 439:326\u2013330","journal-title":"Nature"},{"key":"902_CR5","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1002\/ajmg.c.30231","volume":"151C","author":"K Baker","year":"2009","unstructured":"Baker K, Beales PL (2009) Making sense of cilia in disease: the human ciliopathies. Am J Med Genet C Semin Med Genet 151C:281\u2013295","journal-title":"Am J Med Genet C Semin Med Genet"},{"key":"902_CR6","doi-asserted-by":"crossref","first-page":"387","DOI":"10.1002\/j.1550-8528.1995.tb00165.x","volume":"3","author":"G Bardet","year":"1920","unstructured":"Bardet G (1920) On congenital obesity syndrome with polydactyly and retinitis pigmentosa (a contribution to the study of clinical forms of hypophyseal obesity). Obes Res 3:387\u2013399","journal-title":"Obes Res"},{"key":"902_CR7","doi-asserted-by":"crossref","first-page":"92","DOI":"10.1136\/jmg.34.2.92","volume":"34","author":"PL Beales","year":"1997","unstructured":"Beales PL, Warner AM, Hitman GA, Thakker R, Flinter FA (1997) Bardet\u2013Biedl syndrome: a molecular and phenotypic study of 18 families. J Med Genet 34:92\u201398","journal-title":"J Med Genet"},{"key":"902_CR8","doi-asserted-by":"crossref","first-page":"1187","DOI":"10.1086\/375178","volume":"72","author":"PL Beales","year":"2003","unstructured":"Beales PL, Badano JL, Ross AJ, Ansley SJ, Hoskins BE, Kirsten B, Mein CA, Froguel P, Scambler PJ, Lewis RA, Lupski JR, Katsanis N (2003) Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet\u2013Biedl syndrome. Am J Hum Genet 72:1187\u20131199","journal-title":"Am J Hum Genet"},{"key":"902_CR9","doi-asserted-by":"crossref","first-page":"404","DOI":"10.1002\/j.1550-8528.1995.tb00167.x","volume":"3","author":"A Biedl","year":"1922","unstructured":"Biedl A (1922) A pair of siblings with adiposo-genital dystrophy. Obes Res 3:404","journal-title":"Obes Res"},{"key":"902_CR10","doi-asserted-by":"crossref","first-page":"453","DOI":"10.1136\/jmg.2009.073205","volume":"47","author":"G Billingsley","year":"2010","unstructured":"Billingsley G, Bin J, Fieggen KJ, Duncan JL, Gerth C, Ogata K, Wodak SS, Traboulsi EI, Fishman GA, Paterson A, Chitayat D, Knueppel T, Millan JM, Mitchell GA, Deveault C, Heon E (2010) Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet\u2013Biedl syndrome patient population. J Med Genet 47:453\u2013463","journal-title":"J Med Genet"},{"key":"902_CR11","doi-asserted-by":"crossref","first-page":"475","DOI":"10.1086\/423903","volume":"75","author":"AP Chiang","year":"2004","unstructured":"Chiang AP, Nishimura D, Searby C, Elbedour K, Carmi R, Ferguson AL, Secrist J, Braun T, Casavant T, Stone EM, Sheffield VC (2004) Comparative genomic analysis identifies an ADP-ribosylation factor-like gene as the cause of Bardet\u2013Biedl syndrome (BBS3). Am J Hum Genet 75:475\u2013484","journal-title":"Am J Hum Genet"},{"key":"902_CR12","doi-asserted-by":"crossref","first-page":"6287","DOI":"10.1073\/pnas.0600158103","volume":"103","author":"AP Chiang","year":"2006","unstructured":"Chiang AP, Beck JS, Yen HJ, Tayeh MK, Scheetz TE, Swiderski RE, Nishimura DY, Braun TA, Kim KY, Huang J, Elbedour K, Carmi R, Slusarski DC, Casavant TL, Stone EM, Sheffield VC (2006) Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet\u2013Biedl syndrome gene (BBS11). Proc Natl Acad Sci USA 103:6287\u20136292","journal-title":"Proc Natl Acad Sci USA"},{"key":"902_CR13","doi-asserted-by":"crossref","first-page":"78","DOI":"10.1111\/j.1399-0004.1988.tb03414.x","volume":"33","author":"TI Farag","year":"1988","unstructured":"Farag TI, Teebi AS (1988) Bardet\u2013Biedl and Laurence\u2013Moon syndromes in a mixed Arab population. Clin Genet 33:78\u201382","journal-title":"Clin Genet"},{"key":"902_CR101","doi-asserted-by":"crossref","unstructured":"Fauser S, Munz M, Besch D (2003) Further support for digenic inheritance in Bardet-Biedl syndrome. J Med Genet 40:e104","DOI":"10.1136\/jmg.40.8.e104"},{"key":"902_CR14","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1111\/j.1755-3768.1992.tb02109.x","volume":"70","author":"M Haim","year":"1992","unstructured":"Haim M (1992) Prevalence of retinitis pigmentosa and allied disorders in Denmark. II. Systemic involvement and age at onset. Acta Ophthalmol (Copenh) 70:417\u2013426","journal-title":"Acta Ophthalmol (Copenh)"},{"key":"902_CR15","doi-asserted-by":"crossref","first-page":"262","DOI":"10.1136\/jmg.2009.071365","volume":"47","author":"HM Harville","year":"2010","unstructured":"Harville HM, Held S, Diaz-Font A, Davis EE, Diplas BH, Lewis RA, Borochowitz ZU, Zhou W, Chaki M, MacDonald J, Kayserili H, Beales PL, Katsanis N, Otto E, Hildebrandt F (2010) Identification of 11 novel mutations in eight BBS genes by high-resolution homozygosity mapping. J Med Genet 47:262\u2013267","journal-title":"J Med Genet"},{"key":"902_CR16","doi-asserted-by":"crossref","first-page":"31000353","DOI":"10.1371\/journal.pgen.1000353","volume":"5","author":"F Hildebrandt","year":"2009","unstructured":"Hildebrandt F, Heeringa SF, R\u00fcschendorf F, Attanasio M, N\u00fcrnberg G, Becker C, Seelow D, Huebner N, Chernin G, Vlangos CN, Zhou W, O\u2019Toole JF, Hoskins BE, Wolf MTF, Hinkes BG, Chaib H, Ashraf S, Allen SJ, Vega-Warner V, Wise E, Harville HM, Lyons RH, Washburn J, MacDonald J, N\u00fcrnberg P, Otto EA (2009) A systematic approach to mapping recessive disease genes in individuals from outbred populations. PloS Genet 5:31000353","journal-title":"PloS Genet"},{"key":"902_CR102","doi-asserted-by":"crossref","unstructured":"Hjortsh\u00f8j TD, Gr\u00f8nskov K, Philp AR, Nishimura DY, Adeyemo A, Rotimi CN, Sheffield VC, Rosenberg T, Br\u00f8ndum-Nielsen K (2008) Novel mutations in BBS5 highlight the importance of this gene in non-Caucasian Bardet\u2013Biedl syndrome patients. Am J Med Genet 146:517\u2013520","DOI":"10.1002\/ajmg.a.32136"},{"key":"902_CR17","doi-asserted-by":"crossref","first-page":"429","DOI":"10.1002\/humu.21204","volume":"31","author":"TD Hjortshoj","year":"2010","unstructured":"Hjortshoj TD, Gronskov K, Philp AR, Nishimura DY, Riise R, Sheffield VC, Rosenberg T, Brondum-Nielsen K (2010) Bardet\u2013Biedl syndrome in Denmark\u2014report of 13 novel sequence variations in six genes. Hum Mutat 31:429\u2013436","journal-title":"Hum Mutat"},{"issue":"Spec No 1","key":"902_CR18","doi-asserted-by":"crossref","first-page":"R65","DOI":"10.1093\/hmg\/ddh092","volume":"13","author":"N Katsanis","year":"2004","unstructured":"Katsanis N (2004) The oligogenic properties of Bardet\u2013Biedl syndrome. Hum Mol Genet 13(Spec No 1):R65\u2013R71","journal-title":"Hum Mol Genet"},{"key":"902_CR104","doi-asserted-by":"crossref","unstructured":"Katsanis N, Lewis RA, Stockton DW, Mai PM, Baird L, Beales PL, Leppert M, Lupski JR (1999) Delineation of the critical interval of Bardet-Biedl syndrome 1 (BBS1) to a small region of 11q13, through linkage and haplotype analysis of 91 pedigrees. Am J Hum Genet 65:1672\u20131679","DOI":"10.1086\/302684"},{"key":"902_CR19","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1038\/79201","volume":"26","author":"N Katsanis","year":"2000","unstructured":"Katsanis N, Beales PL, Woods MO, Lewis RA, Green JS, Parfrey PS, Ansley SJ, Davidson WS, Lupski JR (2000) Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet\u2013Biedl syndrome. Nat Genet 26:67\u201370","journal-title":"Nat Genet"},{"key":"902_CR20","doi-asserted-by":"crossref","first-page":"2256","DOI":"10.1126\/science.1063525","volume":"293","author":"N Katsanis","year":"2001","unstructured":"Katsanis N, Ansley SJ, Badano JL, Eichers ER, Lewis RA, Hoskins BE, Scambler PJ, Davidson WS, Beales PL, Lupski JR (2001) Triallelic inheritance in Bardet\u2013Biedl syndrome, a Mendelian recessive disorder. Science 293:2256\u20132259","journal-title":"Science"},{"key":"902_CR100","doi-asserted-by":"crossref","unstructured":"Katsanis N, Eichers ER, Ansley SJ, Lewis RA, Kayserili H, Hoskins BE, Scambler PJ, Beales PL, Lupski JR (2002) BBS4 is a minor contributor to Bardet\u2013Biedl syndrome and may also participate in triallelic inheritance. Am J Hum Genet 71:22\u201329","DOI":"10.1086\/341031"},{"key":"902_CR21","doi-asserted-by":"crossref","first-page":"739","DOI":"10.1038\/ng.366","volume":"41","author":"H Khanna","year":"2009","unstructured":"Khanna H, Davis EE, Murga-Zamalloa CA, Estrada-Cuzcano A, Lopez I, den Hollander AI, Zonneveld MN, Othman MI, Waseem N, Chakarova CF, Maubaret C, Diaz-Font A, Macdonald I, Muzny DM, Wheeler DA, Morgan M, Lewis LR, Logan CV, Tan PL, Beer MA, Inglehearn CF, Lewis RA, Jacobson SG, Bergmann C, Beales PL, Attie-Bitach T, Johnson CA, Otto EA, Bhattacharya SS, Hildebrandt F, Gibbs RA, Koenekoop RK, Swaroop A, Katsanis N (2009) A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies. Nat Genet 41:739\u2013745","journal-title":"Nat Genet"},{"key":"902_CR22","doi-asserted-by":"crossref","first-page":"479","DOI":"10.1016\/0022-510X(69)90091-4","volume":"9","author":"D Klein","year":"1969","unstructured":"Klein D, Ammann F (1969) The syndrome of Laurence\u2013Moon\u2013Bardet\u2013Biedl and allied diseases in Switzerland. Clinical, genetic and epidemiological studies. J Neurol Sci 9:479\u2013513","journal-title":"J Neurol Sci"},{"key":"902_CR23","doi-asserted-by":"crossref","first-page":"1567","DOI":"10.1126\/science.2884728","volume":"236","author":"ES Lander","year":"1987","unstructured":"Lander ES, Botstein D (1987) Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children. Science 236:1567\u20131570","journal-title":"Science"},{"key":"902_CR24","doi-asserted-by":"crossref","first-page":"443","DOI":"10.1038\/ng.97","volume":"40","author":"CC Leitch","year":"2008","unstructured":"Leitch CC, Zaghloul NA, Davis EE, Stoetzel C, Diaz-Font A, Rix S, Alfadhel M, Lewis RA, Eyaid W, Banin E, Dollfus H, Beales PL, Badano JL, Katsanis N (2008) Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet\u2013Biedl syndrome. Nat Genet 40:443\u2013448","journal-title":"Nat Genet"},{"key":"902_CR25","doi-asserted-by":"crossref","first-page":"541","DOI":"10.1016\/S0092-8674(04)00450-7","volume":"117","author":"JB Li","year":"2004","unstructured":"Li JB, Gerdes JM, Haycraft CJ, Fan Y, Teslovich TM, May-Simera H, Li H, Blacque OE, Li L, Leitch CC, Lewis RA, Green JS, Parfrey PS, Leroux MR, Davidson WS, Beales PL, Guay-Woodford LM, Yoder BK, Stormo GD, Katsanis N, Dutcher SK (2004) Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene. Cell 117:541\u2013552","journal-title":"Cell"},{"key":"902_CR26","doi-asserted-by":"crossref","first-page":"352","DOI":"10.1002\/ajmg.a.30406","volume":"132","author":"SJ Moore","year":"2005","unstructured":"Moore SJ, Green JS, Fan Y, Bhogal AK, Dicks E, Fernandez BA, Stefanelli M, Murphy C, Cramer BC, Dean JC, Beales PL, Katsanis N, Bassett AS, Davidson WS, Parfrey PS (2005) Clinical and genetic epidemiology of Bardet\u2013Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort study. Am J Med Genet A 132:352\u2013360","journal-title":"Am J Med Genet A"},{"key":"902_CR27","doi-asserted-by":"crossref","first-page":"583","DOI":"10.1007\/s00439-010-0804-9","volume":"127","author":"J Muller","year":"2010","unstructured":"Muller J, Stoetzel C, Vincent MC, Leitch CC, Laurier V, Danse JM, Helle S, Marion V, Bennouna-Greene V, Vicaire S, Megarbane A, Kaplan J, Drouin-Garraud V, Hamdani M, Sigaudy S, Francannet C, Roume J, Bitoun P, Goldenberg A, Philip N, Odent S, Green J, Cossee M, Davis EE, Katsanis N, Bonneau D, Verloes A, Poch O, Mandel JL, Dollfus H (2010) Identification of 28 novel mutations in the Bardet\u2013Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease. Hum Genet 127:583\u2013593","journal-title":"Hum Genet"},{"key":"902_CR28","doi-asserted-by":"crossref","first-page":"188","DOI":"10.1038\/88925","volume":"28","author":"K Mykytyn","year":"2001","unstructured":"Mykytyn K, Braun T, Carmi R, Haider NB, Searby CC, Shastri M, Beck G, Wright AF, Iannaccone A, Elbedour K, Riise R, Baldi A, Raas-Rothschild A, Gorman SW, Duhl DM, Jacobson SG, Casavant T, Stone EM, Sheffield VC (2001) Identification of the gene that, when mutated, causes the human obesity syndrome BBS4. Nat Genet 28:188\u2013191","journal-title":"Nat Genet"},{"key":"902_CR29","doi-asserted-by":"crossref","first-page":"435","DOI":"10.1038\/ng935","volume":"31","author":"K Mykytyn","year":"2002","unstructured":"Mykytyn K, Nishimura DY, Searby CC, Shastri M, Yen HJ, Beck JS, Braun T, Streb LM, Cornier AS, Cox GF, Fulton AB, Carmi R, Luleci G, Chandrasekharappa SC, Collins FS, Jacobson SG, Heckenlively JR, Weleber RG, Stone EM, Sheffield VC (2002) Identification of the gene (BBS1) most commonly involved in Bardet\u2013Biedl syndrome, a complex human obesity syndrome. Nat Genet 31:435\u2013438","journal-title":"Nat Genet"},{"key":"902_CR30","doi-asserted-by":"crossref","first-page":"1201","DOI":"10.1016\/j.cell.2007.03.053","volume":"129","author":"MV Nachury","year":"2007","unstructured":"Nachury MV, Loktev AV, Zhang Q, Westlake CJ, Peranen J, Merdes A, Slusarski DC, Scheller RH, Bazan JF, Sheffield VC, Jackson PK (2007) A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis. Cell 129:1201\u20131213","journal-title":"Cell"},{"key":"902_CR31","doi-asserted-by":"crossref","first-page":"865","DOI":"10.1093\/hmg\/10.8.865","volume":"10","author":"DY Nishimura","year":"2001","unstructured":"Nishimura DY, Searby CC, Carmi R, Elbedour K, Van Maldergem L, Fulton AB, Lam BL, Powell BR, Swiderski RE, Bugge KE, Haider NB, Kwitek-Black AE, Ying L, Duhl DM, Gorman SW, Heon E, Iannaccone A, Bonneau D, Biesecker LG, Jacobson SG, Stone EM, Sheffield VC (2001) Positional cloning of a novel gene on chromosome 16q causing Bardet\u2013Biedl syndrome (BBS2). Hum Mol Genet 10:865\u2013874","journal-title":"Hum Mol Genet"},{"key":"902_CR32","doi-asserted-by":"crossref","first-page":"1021","DOI":"10.1086\/498323","volume":"77","author":"DY Nishimura","year":"2005","unstructured":"Nishimura DY, Swiderski RE, Searby CC, Berg EM, Ferguson AL, Hennekam R, Merin S, Weleber RG, Biesecker LG, Stone EM, Sheffield VC (2005) Comparative genomics and gene expression analysis identifies BBS9, a new Bardet\u2013Biedl syndrome gene. Am J Hum Genet 77:1021\u20131033","journal-title":"Am J Hum Genet"},{"key":"902_CR33","doi-asserted-by":"crossref","unstructured":"Otto EA, Ramaswami G, Janssen S, Chaki M, Allen SJ, Zhou W, Airik R, Hurd TW, Ghosh AK, Wolf MT, Hoppe B, Neuhaus TJ, Bockenhauer D, Milford DV, Soliman NA, Antignac C, Saunier S, Johnson CA, Hildebrandt F, the GPN Study Group (2010b) Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy. J Med Genet, in press","DOI":"10.1136\/jmg.2010.082552"},{"key":"902_CR34","doi-asserted-by":"crossref","first-page":"418","DOI":"10.1002\/humu.20669","volume":"29","author":"EA Otto","year":"2008","unstructured":"Otto EA, Helou J, Allen SJ, O\u2019Toole JF, Wise EL, Ashraf S, Attanasio M, Zhou W, Wolf MT, Hildebrandt F (2008) Mutation analysis in nephronophthisis using a combined approach of homozygosity mapping, CEL I endonuclease cleavage, and direct sequencing. Hum Mutat 29:418\u2013426","journal-title":"Hum Mutat"},{"key":"902_CR35","doi-asserted-by":"crossref","first-page":"840","DOI":"10.1038\/ng.662","volume":"420","author":"EA Otto","year":"2010","unstructured":"Otto EA, Hurd TW, Airik R, Chaki M, Zhou W, Stoetzel C, Patil SB, Levy S, Ghosh AK, Murga-Zamalloa CA, van Reeuwijk J, Letteboer SJ, Sang L, Giles RH, Liu Q, Coene KL, Estrada-Cuzcano A, Collin RW, McLaughlin HM, Held S, Kasanuki JM, Ramaswami G, Conte J, Lopez I, Washburn J, Macdonald J, Hu J, Yamashita Y, Maher ER, Guay-Woodford LM, Neumann HP, Oberm\u00fcller N, Koenekoop RK, Bergmann C, Bei X, Lewis RA, Katsanis N, Lopes V, Williams DS, Lyons RH, Dang CV, Brito DA, Dias MB, Zhang X, Cavalcoli JD, N\u00fcrnberg G, N\u00fcrnberg P, Pierce EA, Jackson PK, Antignac C, Saunier S, Roepman R, Dollfus H, Khanna H, Hildebrandt F (2010) Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy. Nat Genet 420:840\u2013850","journal-title":"Nat Genet"},{"key":"902_CR36","doi-asserted-by":"crossref","first-page":"3894","DOI":"10.1093\/nar\/gkf493","volume":"30","author":"V Ramensky","year":"2002","unstructured":"Ramensky V, Bork P, Sunyaev S (2002) Human non-synonymous SNPs: server and survey. Nucleic Acids Res 30:3894\u20133900","journal-title":"Nucleic Acids Res"},{"key":"902_CR37","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1038\/79116","volume":"26","author":"AM Slavotinek","year":"2000","unstructured":"Slavotinek AM, Stone EM, Mykytyn K, Heckenlively JR, Green JS, Heon E, Musarella MA, Parfrey PS, Sheffield VC, Biesecker LG (2000) Mutations in MKKS cause Bardet\u2013Biedl syndrome. Nat Genet 26:15\u201316","journal-title":"Nat Genet"},{"key":"902_CR38","doi-asserted-by":"crossref","first-page":"521","DOI":"10.1038\/ng1771","volume":"38","author":"C Stoetzel","year":"2006","unstructured":"Stoetzel C, Laurier V, Davis EE, Muller J, Rix S, Badano JL, Leitch CC, Salem N, Chouery E, Corbani S, Jalk N, Vicaire S, Sarda P, Hamel C, Lacombe D, Holder M, Odent S, Holder S, Brooks AS, Elcioglu NH, Silva ED, Rossillion B, Sigaudy S, de Ravel TJ, Lewis RA, Leheup B, Verloes A, Amati-Bonneau P, Megarbane A, Poch O, Bonneau D, Beales PL, Mandel JL, Katsanis N, Dollfus H (2006) BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus. Nat Genet 38:521\u2013524","journal-title":"Nat Genet"},{"key":"902_CR39","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1086\/510256","volume":"80","author":"C Stoetzel","year":"2007","unstructured":"Stoetzel C, Muller J, Laurier V, Davis EE, Zaghloul NA, Vicaire S, Jacquelin C, Plewniak F, Leitch CC, Sarda P, Hamel C, de Ravel TJ, Lewis RA, Friederich E, Thibault C, Danse JM, Verloes A, Bonneau D, Katsanis N, Poch O, Mandel JL, Dollfus H (2007) Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet\u2013Biedl syndrome. Am J Hum Genet 80:1\u201311","journal-title":"Am J Hum Genet"},{"key":"902_CR103","doi-asserted-by":"crossref","unstructured":"Stone DL, Slavotinek A, Bouffard GG, Banerjee-Basu S, Baxevanis AD, Barr M, Biesecker LG (2000) Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome. Nat Genet 25:79\u201382","DOI":"10.1038\/75637"},{"key":"902_CR40","doi-asserted-by":"crossref","first-page":"224","DOI":"10.1136\/jmg.31.3.224","volume":"31","author":"AS Teebi","year":"1994","unstructured":"Teebi AS (1994) Autosomal recessive disorders among Arabs: an overview from Kuwait. J Med Genet 31:224\u2013233","journal-title":"J Med Genet"},{"key":"902_CR41","doi-asserted-by":"crossref","first-page":"900","DOI":"10.1086\/302301","volume":"64","author":"TL Young","year":"1999","unstructured":"Young TL, Penney L, Woods MO, Parfrey PS, Green JS, Hefferton D, Davidson WS (1999) A fifth locus for Bardet\u2013Biedl syndrome maps to chromosome 2q31. Am J Hum Genet 64:900\u2013904","journal-title":"Am J Hum Genet"},{"key":"902_CR42","doi-asserted-by":"crossref","first-page":"428","DOI":"10.1172\/JCI37041","volume":"119","author":"NA Zaghloul","year":"2009","unstructured":"Zaghloul NA, Katsanis N (2009) Mechanistic insights into Bardet\u2013Biedl syndrome, a model ciliopathy. J Clin Invest 119:428\u2013437","journal-title":"J Clin Invest"},{"key":"902_CR43","doi-asserted-by":"crossref","first-page":"10602","DOI":"10.1073\/pnas.1000219107","volume":"107","author":"NA Zaghloul","year":"2010","unstructured":"Zaghloul NA, Liu Y, Gerdes JM, Gascue C, Oh EC, Leitch CC, Bromberg Y, Binkley J, Leibel RL, Sidow A, Badano JL, Katsanis N (2010) Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet\u2013Biedl syndrome. Proc Natl Acad Sci USA 107:10602\u201310607","journal-title":"Proc Natl Acad Sci USA"}],"container-title":["Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00439-010-0902-8.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00439-010-0902-8\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00439-010-0902-8","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,6,5]],"date-time":"2019-06-05T22:04:27Z","timestamp":1559772267000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00439-010-0902-8"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,10,30]]},"references-count":48,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2011,1]]}},"alternative-id":["902"],"URL":"https:\/\/doi.org\/10.1007\/s00439-010-0902-8","relation":{},"ISSN":["0340-6717","1432-1203"],"issn-type":[{"value":"0340-6717","type":"print"},{"value":"1432-1203","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,10,30]]}}}