{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T14:55:35Z","timestamp":1791298535796,"version":"4.1.0"},"reference-count":29,"publisher":"Hindawi Limited","issue":"6","license":[{"start":{"date-parts":[[2015,9,1]],"date-time":"2015-09-01T00:00:00Z","timestamp":1441065600000},"content-version":"tdm","delay-in-days":5356,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Hum. Mutat."],"published-print":{"date-parts":[[2001,12]]},"DOI":"10.1002\/humu.1230","type":"journal-article","created":{"date-parts":[[2002,8,25]],"date-time":"2002-08-25T16:27:19Z","timestamp":1030292839000},"page":"535-541","source":"Crossref","is-referenced-by-count":36,"title":["A survey ofTWIST for mutations in craniosynostosis reveals a variable length polyglycine tract in asymptomatic individuals"],"prefix":"10.1155","volume":"18","author":[{"given":"Navaratnam","family":"Elanko","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julie S.","family":"Sibbring","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kay A.","family":"Metcalfe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jill","family":"Clayton-Smith","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dian","family":"Donnai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"I. Karen","family":"Temple","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Steven A.","family":"Wall","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew O.M.","family":"Wilkie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"98","published-online":{"date-parts":[[2001]]},"reference":[{"key":"BIB01","doi-asserted-by":"crossref","first-page":"915","DOI":"10.1007\/s003359900269","volume":"7","author":"Bourgeois","year":"1996","journal-title":"Mammalian Genome"},{"key":"BIB02","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1146\/annurev.genom.1.1.281","volume":"1","author":"Cummings","year":"2000","journal-title":"Annu Rev Genomics Hum Genet"},{"key":"BIB03","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1002\/(SICI)1098-1004(200001)15:1<7::AID-HUMU4>3.0.CO;2-N","volume":"15","author":"Den Dunnen","year":"2000","journal-title":"Hum Mutat"},{"key":"BIB04","doi-asserted-by":"crossref","first-page":"152","DOI":"10.1038\/380152a0","volume":"380","author":"Dib","year":"1996","journal-title":"Nature"},{"key":"BIB05","doi-asserted-by":"crossref","first-page":"458","DOI":"10.1002\/(SICI)1097-0215(19991022)84:5<458::AID-IJC2>3.0.CO;2-Y","volume":"84","author":"Edwards","year":"1999","journal-title":"Int J Cancer"},{"key":"BIB06","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1038\/ng0197-42","volume":"15","author":"El Ghouzzi","year":"1997","journal-title":"Nat Genet"},{"key":"BIB07","doi-asserted-by":"crossref","first-page":"813","DOI":"10.1093\/hmg\/9.5.813","volume":"9","author":"El Ghouzzi","year":"2000","journal-title":"Hum Mol Genet"},{"key":"BIB08","doi-asserted-by":"crossref","first-page":"112","DOI":"10.1016\/S0014-5793(01)02238-4","volume":"492","author":"El Ghouzzi","year":"2001","journal-title":"FEBS Lett"},{"key":"BIB09","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1016\/S0960-0760(96)00097-0","volume":"59","author":"Gao","year":"1996","journal-title":"J Steroid Biochem Molec Biol"},{"key":"BIB10","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1034\/j.1399-0004.2001.590101.x","volume":"59","author":"Goodman","year":"2001","journal-title":"Clin Genet"},{"key":"BIB11","doi-asserted-by":"crossref","first-page":"150","DOI":"10.1002\/(SICI)1098-1004(200002)15:2<150::AID-HUMU3>3.0.CO;2-D","volume":"15","author":"Gripp","year":"2000","journal-title":"Hum Mutat"},{"key":"BIB12","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1016\/S0092-8674(00)80553-X","volume":"96","author":"Hamamori","year":"1999","journal-title":"Cell"},{"key":"BIB13","doi-asserted-by":"crossref","first-page":"229","DOI":"10.1016\/0168-9525(96)10022-6","volume":"12","author":"Hanna-Rose","year":"1996","journal-title":"Trends Genet"},{"key":"BIB14","doi-asserted-by":"crossref","first-page":"2623","DOI":"10.1101\/gad.12.16.2623","volume":"12","author":"Harfe","year":"1998","journal-title":"Genes Dev"},{"key":"BIB15","doi-asserted-by":"crossref","first-page":"893","DOI":"10.1016\/0092-8674(89)90612-0","volume":"59","author":"Hopwood","year":"1989","journal-title":"Cell"},{"key":"BIB16","doi-asserted-by":"crossref","first-page":"36","DOI":"10.1038\/ng0197-36","volume":"15","author":"Howard","year":"1997","journal-title":"Nat Genet"},{"key":"BIB17","doi-asserted-by":"crossref","first-page":"4383","DOI":"10.1021\/bi992989b","volume":"39","author":"Imanishi","year":"2000","journal-title":"Biochemistry"},{"key":"BIB18","doi-asserted-by":"crossref","first-page":"1282","DOI":"10.1086\/302122","volume":"63","author":"Johnson","year":"1998","journal-title":"Am J Hum Genet"},{"key":"BIB19","doi-asserted-by":"crossref","first-page":"571","DOI":"10.1038\/sj.ejhg.5200499","volume":"8","author":"Johnson","year":"2000","journal-title":"Eur J Hum Genet"},{"key":"BIB20","doi-asserted-by":"crossref","first-page":"1560","DOI":"10.1073\/pnas.93.4.1560","volume":"93","author":"Karlin","year":"1996","journal-title":"Proc Natl Acad Sci USA"},{"key":"BIB21","first-page":"a367","volume":"63","author":"Kasparcova","year":"1998","journal-title":"Am J Hum Genet"},{"key":"BIB22","doi-asserted-by":"crossref","first-page":"591","DOI":"10.1016\/S8756-3282(00)00380-X","volume":"27","author":"Lee","year":"2000","journal-title":"Bone"},{"key":"BIB23","first-page":"6117","volume-title":"The metabolic and molecular bases of inherited disease","author":"Muenke","year":"2001","unstructured":"2001. Craniosynostosis syndromes. In: editors. The metabolic and molecular bases of inherited disease. New York: McGraw-Hill. p 6117-6146."},{"key":"BIB24","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1002\/(SICI)1098-1004(1999)14:2<115::AID-HUMU3>3.0.CO;2-2","volume":"14","author":"Passos-Bueno","year":"1999","journal-title":"Hum Mutat"},{"key":"BIB25","doi-asserted-by":"crossref","first-page":"1370","DOI":"10.1086\/301855","volume":"62","author":"Paznekas","year":"1998","journal-title":"Am J Hum Genet"},{"key":"BIB26","doi-asserted-by":"crossref","first-page":"116","DOI":"10.1097\/00019605-199504000-00003","volume":"4","author":"Temple","year":"1995","journal-title":"Clin Dysmorph"},{"key":"BIB27","doi-asserted-by":"crossref","first-page":"3439","DOI":"10.1093\/nar\/15.8.3439","volume":"15","author":"Thisse","year":"1987","journal-title":"Nucl Acids Res"},{"key":"BIB28","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1016\/S0378-1119(96)00727-5","volume":"187","author":"Wang","year":"1997","journal-title":"Gene"},{"key":"BIB29","doi-asserted-by":"crossref","first-page":"363","DOI":"10.1016\/0012-1606(91)90086-I","volume":"143","author":"Wolf","year":"1991","journal-title":"Dev Biol"}],"container-title":["Human Mutation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fhumu.1230","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full\/10.1002\/humu.1230","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,12,29]],"date-time":"2022-12-29T16:52:58Z","timestamp":1672332778000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/humu.1230"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2001]]},"references-count":29,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2001,12]]}},"URL":"https:\/\/doi.org\/10.1002\/humu.1230","relation":{},"ISSN":["1059-7794","1098-1004"],"issn-type":[{"value":"1059-7794","type":"print"},{"value":"1098-1004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2001]]}}}