{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T04:05:38Z","timestamp":1792037138320,"version":"4.4.0"},"reference-count":52,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2015,9,1]],"date-time":"2015-09-01T00:00:00Z","timestamp":1441065600000},"content-version":"tdm","delay-in-days":3895,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[2005,2,1]]},"DOI":"10.1002\/ajmg.a.30406","type":"journal-article","created":{"date-parts":[[2005,1,6]],"date-time":"2005-01-06T14:59:24Z","timestamp":1105023564000},"page":"352-360","source":"Crossref","is-referenced-by-count":254,"title":["Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: A 22-year prospective, population-based, cohort study"],"prefix":"10.1002","volume":"132A","author":[{"given":"Susan J.","family":"Moore","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jane S.","family":"Green","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yanli","family":"Fan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ashvinder K.","family":"Bhogal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth","family":"Dicks","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bridget A.","family":"Fernandez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark","family":"Stefanelli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christopher","family":"Murphy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benvon C.","family":"Cramer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John C.S.","family":"Dean","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":"Anne S.","family":"Bassett","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William S.","family":"Davidson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrick S.","family":"Parfrey","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005]]},"reference":[{"key":"10.1002\/ajmg.a.30406-BIB1","doi-asserted-by":"crossref","first-page":"628","DOI":"10.1038\/nature02030","volume":"425","author":"Ansley","year":"2003","journal-title":"Nature"},{"key":"10.1002\/ajmg.a.30406-BIB2","first-page":"7","volume-title":"The Edinburgh Articulation Test","author":"Anthony","year":"1971","unstructured":"1971. The Edinburgh Articulation Test. London: E&S Livingstone. pp 7-30."},{"key":"10.1002\/ajmg.a.30406-BIB3","doi-asserted-by":"crossref","first-page":"650","DOI":"10.1086\/368204","volume":"72","author":"Badano","year":"2003a","journal-title":"Am J Hum Genet"},{"key":"10.1002\/ajmg.a.30406-BIB4","first-page":"107","volume":"470","author":"Bardet","year":"1920","journal-title":"These de Paris (Le Grand)"},{"key":"10.1002\/ajmg.a.30406-BIB5","doi-asserted-by":"crossref","first-page":"e76","DOI":"10.1136\/jmg.39.12.e76","volume":"39","author":"Barnett","year":"2002","journal-title":"J Med Genet"},{"key":"10.1002\/ajmg.a.30406-BIB6","doi-asserted-by":"crossref","first-page":"92","DOI":"10.1136\/jmg.34.2.92","volume":"34","author":"Beales","year":"1997","journal-title":"J Med Genet"},{"key":"10.1002\/ajmg.a.30406-BIB7","doi-asserted-by":"crossref","first-page":"437","DOI":"10.1136\/jmg.36.6.437","volume":"36","author":"Beales","year":"1999","journal-title":"J Med Genet"},{"key":"10.1002\/ajmg.a.30406-BIB8","first-page":"1630","volume":"48","author":"Biedl","year":"1922","journal-title":"Dtsch Med Wochenschr"},{"key":"10.1002\/ajmg.a.30406-BIB9","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1002\/ajmg.1320590216","volume":"59","author":"Carmi","year":"1995","journal-title":"Am J Med Genet"},{"key":"10.1002\/ajmg.a.30406-BIB10","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1159\/000180580","volume":"16","author":"Cockroft","year":"1976","journal-title":"Nephron"},{"key":"10.1002\/ajmg.a.30406-BIB11","first-page":"324","volume-title":"Genetics of Bardet-Biedl syndrome: Obesity and the Newfoundland population. Progress in obesity research: 9","author":"Davidson","year":"2003","unstructured":"2003. Genetics of Bardet-Biedl syndrome: Obesity and the Newfoundland population. Progress in obesity research: 9. Montrouge: John Libby Eurotext Ltd. pp 324-327."},{"key":"10.1002\/ajmg.a.30406-BIB12","author":"Diagnostic and Stastistical Manual of Mental Disorders","year":"1997","unstructured":"Diagnostic and Stastistical Manual of Mental Disorders. 1997. Washington, D.C.: American Psychiatric Association."},{"key":"10.1002\/ajmg.a.30406-BIB13","doi-asserted-by":"crossref","first-page":"680","DOI":"10.1038\/sj.ijo.0802601","volume":"28","author":"Fan","year":"2004","journal-title":"Int J Obes Relat Metab Disord"},{"key":"10.1002\/ajmg.a.30406-BIB14","doi-asserted-by":"crossref","first-page":"78","DOI":"10.1111\/j.1399-0004.1988.tb03414.x","volume":"33","author":"Farag","year":"1988","journal-title":"Clin Genet"},{"key":"10.1002\/ajmg.a.30406-BIB15","doi-asserted-by":"crossref","first-page":"1002","DOI":"10.1056\/NEJM198910123211503","volume":"321","author":"Green","year":"1989","journal-title":"N Eng J Med"},{"key":"10.1002\/ajmg.a.30406-BIB16","volume-title":"Handbook of normal physical measurements","author":"Hall","year":"1995","unstructured":"1995. Handbook of normal physical measurements. Oxford: Oxford Medical Publications."},{"key":"10.1002\/ajmg.a.30406-BIB17","doi-asserted-by":"crossref","first-page":"615","DOI":"10.1056\/NEJM198809083191005","volume":"319","author":"Harnett","year":"1988","journal-title":"New Eng J Med"},{"key":"10.1002\/ajmg.a.30406-BIB18","doi-asserted-by":"crossref","first-page":"12091","DOI":"10.1074\/jbc.M009351200","volume":"276","author":"Hong","year":"2001","journal-title":"J Biol Chem"},{"key":"10.1002\/ajmg.a.30406-BIB19","first-page":"2","volume":"1","author":"Hutchinson","year":"1882","journal-title":"Ophthal Rev"},{"key":"10.1002\/ajmg.a.30406-BIB20","first-page":"118","volume":"11","author":"Hutchinson","year":"1900","journal-title":"Arch Surg"},{"key":"10.1002\/ajmg.a.30406-BIB21","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1016\/j.cellbi.2003.11.007","volume":"28","author":"Jensen","year":"2004","journal-title":"Cell Biol Int"},{"key":"10.1002\/ajmg.a.30406-BIB22","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1093\/hmg\/ddh092","volume":"13","author":"Katsanis","year":"2004","journal-title":"Hum Mol Genet"},{"key":"10.1002\/ajmg.a.30406-BIB23","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1038\/79201","volume":"26","author":"Katsanis","year":"2000","journal-title":"Nat Genet"},{"key":"10.1002\/ajmg.a.30406-BIB24","doi-asserted-by":"crossref","first-page":"2256","DOI":"10.1126\/science.1063525","volume":"293","author":"Katsanis","year":"2001","journal-title":"Science"},{"key":"10.1002\/ajmg.a.30406-BIB25","doi-asserted-by":"crossref","first-page":"479","DOI":"10.1016\/0022-510X(69)90091-4","volume":"9","author":"Klein","year":"1969","journal-title":"J Neurol Sci"},{"key":"10.1002\/ajmg.a.30406-BIB26","first-page":"1178","volume":"2","author":"Lancet","year":"1988","journal-title":"Lancet"},{"key":"10.1002\/ajmg.a.30406-BIB27","first-page":"32","volume":"2","author":"Laurence","year":"1866","journal-title":"Ophthalmol Rev"},{"key":"10.1002\/ajmg.a.30406-BIB28","doi-asserted-by":"crossref","first-page":"e14","DOI":"10.1136\/jmg.38.5.e14","volume":"38","author":"Lorda-Sanchez","year":"2001","journal-title":"J Med Genet"},{"key":"10.1002\/ajmg.a.30406-BIB29","first-page":"s1","volume":"159","author":"Meltzer","year":"1998","journal-title":"CMAJ"},{"key":"10.1002\/ajmg.a.30406-BIB30","doi-asserted-by":"crossref","first-page":"188","DOI":"10.1038\/88925","volume":"28","author":"Mykytyn","year":"2001","journal-title":"Nat Genet"},{"key":"10.1002\/ajmg.a.30406-BIB31","doi-asserted-by":"crossref","first-page":"435","DOI":"10.1038\/ng935","volume":"31","author":"Mykytyn","year":"2002","journal-title":"Nat Genet"},{"key":"10.1002\/ajmg.a.30406-BIB32","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1038\/ng1076","volume":"33","author":"Nauli","year":"2003","journal-title":"Nat Genet"},{"key":"10.1002\/ajmg.a.30406-BIB33","first-page":"186","volume-title":"Mayo clinic. Diet manual of nutrition practices (edition 7)","author":"Nelson","year":"1994","unstructured":"1994. Mayo clinic. Diet manual of nutrition practices (edition 7). St Louis, MO: Mosby. pp 186, 657."},{"key":"10.1002\/ajmg.a.30406-BIB34","doi-asserted-by":"crossref","first-page":"865","DOI":"10.1093\/hmg\/10.8.865","volume":"10","author":"Nishimura","year":"2001","journal-title":"Hum Mol Genet"},{"key":"10.1002\/ajmg.a.30406-BIB35","doi-asserted-by":"crossref","first-page":"776","DOI":"10.1016\/S0272-6386(96)90513-2","volume":"27","author":"O'Dea","year":"1996","journal-title":"Am J Kid Dis"},{"key":"10.1002\/ajmg.a.30406-BIB36","first-page":"1","volume":"226","author":"Riise","year":"1998","journal-title":"Acta Opthalmol Scand Suppl"},{"key":"10.1002\/ajmg.a.30406-BIB37","doi-asserted-by":"crossref","first-page":"378","DOI":"10.1136\/bjo.81.5.378","volume":"81","author":"Riise","year":"1997","journal-title":"Br J Ophthalmol"},{"key":"10.1002\/ajmg.a.30406-BIB38","first-page":"1364","volume":"120","author":"Riise","year":"2002","journal-title":"Acta Ophthalmol"},{"key":"10.1002\/ajmg.a.30406-BIB39","doi-asserted-by":"crossref","first-page":"655","DOI":"10.1007\/s002560050153","volume":"25","author":"Rudling","year":"1996","journal-title":"Skeletal Radiol"},{"key":"10.1002\/ajmg.a.30406-BIB40","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1001\/archopht.1982.01030030287011","volume":"100","author":"Schachat","year":"1982","journal-title":"Arch Ophthalmol"},{"key":"10.1002\/ajmg.a.30406-BIB41","doi-asserted-by":"crossref","first-page":"1331","DOI":"10.1093\/hmg\/3.8.1331","volume":"3","author":"Sheffield","year":"1994","journal-title":"Hum Mol Genet"},{"key":"10.1002\/ajmg.a.30406-BIB42","first-page":"95","volume-title":"Assessment in speech-language pathology: A resource manual","author":"Shipley","year":"1998","unstructured":"1998. Assessing diadochokinetic syllable rates. In: editors. Assessment in speech-language pathology: A resource manual. 2nd edition. pp 95-96."},{"key":"10.1002\/ajmg.a.30406-BIB43","doi-asserted-by":"crossref","first-page":"208","DOI":"10.1002\/1096-8628(20001127)95:3<208::AID-AJMG5>3.0.CO;2-J","volume":"95","author":"Slavotinek","year":"2000b","journal-title":"Am J Med Genet"},{"key":"10.1002\/ajmg.a.30406-BIB44","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1038\/79116","volume":"26","author":"Slavotinek","year":"2000a","journal-title":"Nat Genet"},{"key":"10.1002\/ajmg.a.30406-BIB45","doi-asserted-by":"crossref","first-page":"561","DOI":"10.1007\/s00439-002-0733-3","volume":"110","author":"Slavotinek","year":"2002","journal-title":"Hum Genet"},{"key":"10.1002\/ajmg.a.30406-BIB46","doi-asserted-by":"crossref","first-page":"489","DOI":"10.1097\/00000441-192504000-00004","volume":"169","author":"Solis-Cohen","year":"1925","journal-title":"Am J Med Sci"},{"key":"10.1002\/ajmg.a.30406-BIB47","doi-asserted-by":"crossref","first-page":"652","DOI":"10.1093\/ajcn\/55.3.652","volume":"55","author":"Stampfer","year":"1992","journal-title":"Am J Clin Nutr"},{"key":"10.1002\/ajmg.a.30406-BIB48","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1038\/75637","volume":"25","author":"Stone","year":"2000","journal-title":"Nat Genet"},{"key":"10.1002\/ajmg.a.30406-BIB49","doi-asserted-by":"crossref","first-page":"2","DOI":"10.1006\/geno.1998.5626","volume":"55","author":"Woods","year":"1999","journal-title":"Genomics"},{"key":"10.1002\/ajmg.a.30406-BIB50","doi-asserted-by":"crossref","first-page":"461","DOI":"10.1002\/(SICI)1096-8628(19980806)78:5<461::AID-AJMG12>3.0.CO;2-D","volume":"78","author":"Young","year":"1998","journal-title":"Am J Med Genet"},{"key":"10.1002\/ajmg.a.30406-BIB51","doi-asserted-by":"crossref","first-page":"900","DOI":"10.1086\/302301","volume":"64","author":"Young","year":"1999a","journal-title":"Am J Hum Genet"},{"key":"10.1002\/ajmg.a.30406-BIB52","doi-asserted-by":"crossref","first-page":"1680","DOI":"10.1086\/302686","volume":"65","author":"Young","year":"1999b","journal-title":"Am J Hum Genet"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.30406","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full\/10.1002\/ajmg.a.30406","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,1]],"date-time":"2023-05-01T07:43:21Z","timestamp":1682927001000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.30406"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005]]},"references-count":52,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2005,2,1]]}},"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.30406","relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2005]]}}}