{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,20]],"date-time":"2025-10-20T19:12:25Z","timestamp":1760987545807,"version":"3.37.3"},"reference-count":15,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[2022,6,13]],"date-time":"2022-06-13T00:00:00Z","timestamp":1655078400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2022,6,13]],"date-time":"2022-06-13T00:00:00Z","timestamp":1655078400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"funder":[{"DOI":"10.13039\/100000050","name":"National Heart, Lung, and Blood Institute","doi-asserted-by":"publisher","award":["R01 HL149853","U01 HL134745","U01 HL134745"],"award-info":[{"award-number":["R01 HL149853","U01 HL134745","U01 HL134745"]}],"id":[{"id":"10.13039\/100000050","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009340","name":"Children's Discovery Institute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100009340","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Pediatr Nephrol"],"published-print":{"date-parts":[[2023,2]]},"DOI":"10.1007\/s00467-022-05616-z","type":"journal-article","created":{"date-parts":[[2022,6,13]],"date-time":"2022-06-13T07:04:09Z","timestamp":1655103849000},"page":"605-609","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Lethal neonatal respiratory failure due to biallelic variants in BBS1 and monoallelic variant in TTC21B"],"prefix":"10.1007","volume":"38","author":[{"given":"Luke","family":"Viehl","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniel J.","family":"Wegner","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stanley P.","family":"Hmiel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Frances V.","family":"White","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sanjay","family":"Jain","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F. S.","family":"Cole","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9299-0499","authenticated-orcid":false,"given":"Jennifer A.","family":"Wambach","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2022,6,13]]},"reference":[{"key":"5616_CR1","doi-asserted-by":"publisher","first-page":"1","DOI":"10.3390\/genes12091353","volume":"12","author":"L Florea","year":"2021","unstructured":"Florea L, Caba L, Gorduza EV (2021) Bardet-Biedl syndrome-multiple kaleidoscope images: insight into mechanisms of genotype-phenotype correlations. Genes (Basel) 12:1\u201313","journal-title":"Genes (Basel)"},{"key":"5616_CR2","doi-asserted-by":"publisher","first-page":"189","DOI":"10.1038\/ng.756","volume":"43","author":"EE Davis","year":"2011","unstructured":"Davis EE, Zhang Q, Liu Q, Diplas BH, Davey LM, Hartley J, Stoetzel C, Szymanska K, Ramaswami G, Logan CV, Muzny DM, Young AC, Wheeler DA, Cruz P, Morgan M, Lewis LR, Cherukuri P, Maskeri B, Hansen NF, Mullikin JC, Blakesley RW, Bouffard GG, Program NCS, Gyapay G, Rieger S, Tonshoff B, Kern I, Soliman NA, Neuhaus TJ, Swoboda KJ, Kayserili H, Gallagher TE, Lewis RA, Bergmann C, Otto EA, Saunier S, Scambler PJ, Beales PL, Gleeson JG, Maher ER, Attie-Bitach T, Dollfus H, Johnson CA, Green ED, Gibbs RA, Hildebrandt F, Pierce EA, Katsanis N (2011) TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. Nat Genet 43:189\u2013196","journal-title":"Nat Genet"},{"key":"5616_CR3","doi-asserted-by":"publisher","first-page":"3","DOI":"10.1111\/cge.12737","volume":"90","author":"SA Khan","year":"2016","unstructured":"Khan SA, Muhammad N, Khan MA, Kamal A, Rehman ZU, Khan S (2016) Genetics of human Bardet-Biedl syndrome, an updates. Clin Genet 90:3\u201315","journal-title":"Clin Genet"},{"key":"5616_CR4","doi-asserted-by":"publisher","first-page":"8","DOI":"10.1038\/ejhg.2012.115","volume":"21","author":"E Forsythe","year":"2013","unstructured":"Forsythe E, Beales PL (2013) Bardet-Biedl syndrome. Eur J Hum Genet 21:8\u201313","journal-title":"Eur J Hum Genet"},{"key":"5616_CR5","doi-asserted-by":"publisher","first-page":"31","DOI":"10.1016\/j.jpeds.2018.08.068","volume":"204","author":"AJ Olson","year":"2019","unstructured":"Olson AJ, Krentz AD, Finta KM, Okorie UC, Haws RM (2019) Thoraco-abdominal abnormalities in Bardet-Biedl syndrome: situs inversus and heterotaxy. J Pediatr 204:31\u201337","journal-title":"J Pediatr"},{"key":"5616_CR6","doi-asserted-by":"publisher","first-page":"637","DOI":"10.1016\/j.jgyn.2010.07.012","volume":"39","author":"V Emmanuelli","year":"2010","unstructured":"Emmanuelli V, Lahoche-Manucci A, Holder-Espinasse M, Devisme L, Vaast P, Dieux-Coeslier A, Dehennault M, Petit S, Besson R, Houfflin-Debarge V (2010) Prenatal diagnosis of hyperechogenic kidneys: a study of 17 cases. J Gynecol Obstet Biol Reprod (Paris) 39:637\u2013646","journal-title":"J Gynecol Obstet Biol Reprod (Paris)"},{"key":"5616_CR7","doi-asserted-by":"publisher","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-Biedl syndrome, a Mendelian recessive disorder. Science 293:2256\u20132259","journal-title":"Science"},{"key":"5616_CR8","doi-asserted-by":"publisher","first-page":"2213","DOI":"10.1126\/science.1065930","volume":"293","author":"AH Burghes","year":"2001","unstructured":"Burghes AH, Vaessin HE, de La Chapelle A (2001) Genetics. The land between Mendelian and multifactorial inheritance. Science 293:2213\u20132214","journal-title":"Science"},{"key":"5616_CR9","doi-asserted-by":"publisher","first-page":"1039","DOI":"10.1007\/s00467-010-1731-7","volume":"26","author":"AM Waters","year":"2011","unstructured":"Waters AM, Beales PL (2011) Ciliopathies: an expanding disease spectrum. Pediatr Nephrol 26:1039\u20131056","journal-title":"Pediatr Nephrol"},{"key":"5616_CR10","doi-asserted-by":"publisher","first-page":"796","DOI":"10.3390\/ijms18040796","volume":"18","author":"VP Capone","year":"2017","unstructured":"Capone VP, Morello W, Taroni F, Montini G (2017) Genetics of congenital anomalies of the kidney and urinary tract: the current state of play. Int J Mol Sci 18:796","journal-title":"Int J Mol Sci"},{"key":"5616_CR11","doi-asserted-by":"publisher","first-page":"E813","DOI":"10.1002\/humu.21057","volume":"30","author":"J Tallila","year":"2009","unstructured":"Tallila J, Salonen R, Kohlschmidt N, Peltonen L, Kestila M (2009) Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups? Hum Mutat 30:E813-830","journal-title":"Hum Mutat"},{"key":"5616_CR12","doi-asserted-by":"publisher","first-page":"13534","DOI":"10.1093\/nar\/gku1206","volume":"42","author":"X Jian","year":"2014","unstructured":"Jian X, Boerwinkle E, Liu X (2014) In silico prediction of splice-altering single nucleotide variants in the human genome. Nucleic Acids Res 42:13534\u201313544","journal-title":"Nucleic Acids Res"},{"key":"5616_CR13","doi-asserted-by":"publisher","first-page":"7","DOI":"10.1007\/s00467-010-1751-3","volume":"27","author":"A Putoux","year":"2012","unstructured":"Putoux A, Attie-Bitach T, Martinovic J, Gubler MC (2012) Phenotypic variability of Bardet-Biedl syndrome: focusing on the kidney. Pediatr Nephrol 27:7\u201315","journal-title":"Pediatr Nephrol"},{"key":"5616_CR14","doi-asserted-by":"publisher","first-page":"384","DOI":"10.1111\/cge.13500","volume":"95","author":"L Mary","year":"2019","unstructured":"Mary L, Chennen K, Stoetzel C, Antin M, Leuvrey A, Nourisson E, Alanio-Detton E, Antal MC, Attie-Bitach T, Bouvagnet P, Bouvier R, Buenerd A, Clemenson A, Devisme L, Gasser B, Gilbert-Dussardier B, Guimiot F, Khau Van Kien P, Leroy B, Loget P, Martinovic J, Pelluard F, Perez MJ, Petit F, Pinson L, Rooryck-Thambo C, Poch O, Dollfus H, Schaefer E, Muller J (2019) Bardet-Biedl syndrome: antenatal presentation of forty-five fetuses with biallelic pathogenic variants in known Bardet-Biedl syndrome genes. Clin Genet 95:384\u2013397","journal-title":"Clin Genet"},{"key":"5616_CR15","doi-asserted-by":"publisher","first-page":"1145","DOI":"10.1038\/s41588-020-0707-1","volume":"52","author":"M Kousi","year":"2020","unstructured":"Kousi M, Soylemez O, Ozanturk A, Mourtzi N, Akle S, Jungreis I, Muller J, Cassa CA, Brand H, Mokry JA, Wolf MY, Sadeghpour A, McFadden K, Lewis RA, Talkowski ME, Dollfus H, Kellis M, Davis EE, Sunyaev SR, Katsanis N (2020) Evidence for secondary-variant genetic burden and non-random distribution across biological modules in a recessive ciliopathy. Nat Genet 52:1145\u20131150","journal-title":"Nat Genet"}],"container-title":["Pediatric Nephrology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00467-022-05616-z.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00467-022-05616-z\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00467-022-05616-z.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,12,19]],"date-time":"2022-12-19T14:10:32Z","timestamp":1671459032000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00467-022-05616-z"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,6,13]]},"references-count":15,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2023,2]]}},"alternative-id":["5616"],"URL":"https:\/\/doi.org\/10.1007\/s00467-022-05616-z","relation":{},"ISSN":["0931-041X","1432-198X"],"issn-type":[{"type":"print","value":"0931-041X"},{"type":"electronic","value":"1432-198X"}],"subject":[],"published":{"date-parts":[[2022,6,13]]},"assertion":[{"value":"28 January 2022","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"30 April 2022","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"4 May 2022","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"13 June 2022","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"This study was reviewed and approved by the Human Research Protection Office at Washington University School of Medicine. We obtained informed written consent from the parents for participation in this study and publication of the findings.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval"}},{"value":"The authors declare no competing interests.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}}]}}