{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T23:00:34Z","timestamp":1791327634612,"version":"4.3.1"},"reference-count":24,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2010,9,1]],"date-time":"2010-09-01T00:00:00Z","timestamp":1283299200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2013,7,19]],"date-time":"2013-07-19T00:00:00Z","timestamp":1374192000000},"content-version":"vor","delay-in-days":1052,"URL":"https:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[2010,9]]},"DOI":"10.1016\/j.ajhg.2010.08.004","type":"journal-article","created":{"date-parts":[[2010,9,3]],"date-time":"2010-09-03T05:11:54Z","timestamp":1283490714000},"page":"418-423","source":"Crossref","is-referenced-by-count":253,"title":["Exome Sequencing Identifies WDR35 Variants Involved in Sensenbrenner Syndrome"],"prefix":"10.1016","volume":"87","author":[{"given":"Christian","family":"Gilissen","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heleen H.","family":"Arts","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexander","family":"Hoischen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liesbeth","family":"Spruijt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dorus A.","family":"Mans","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peer","family":"Arts","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bart","family":"van Lier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marloes","family":"Steehouwer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeroen","family":"van Reeuwijk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarina G.","family":"Kant","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ronald","family":"Roepman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nine V.A.M.","family":"Knoers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joris A.","family":"Veltman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Han G.","family":"Brunner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ajhg.2010.08.004_bib1","first-page":"372","article-title":"New syndrome of skeletal, dental and hair anomalies","volume":"11","author":"Sensenbrenner","year":"1975","journal-title":"Birth Defects Orig. Artic. Ser."},{"key":"10.1016\/j.ajhg.2010.08.004_bib2","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1016\/S0022-3476(77)80764-6","article-title":"A heritable syndrome of craniosynostosis, short thin hair, dental abnormalities, and short limbs: Cranioectodermal dysplasia","volume":"90","author":"Levin","year":"1977","journal-title":"J. Pediatr."},{"key":"10.1016\/j.ajhg.2010.08.004_bib3","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1002\/(SICI)1096-8628(19970627)70:4<349::AID-AJMG3>3.0.CO;2-O","article-title":"Expanded phenotype of cranioectodermal dysplasia (Sensenbrenner syndrome)","volume":"70","author":"Amar","year":"1997","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ajhg.2010.08.004_bib4","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1002\/ajmg.c.30231","article-title":"Making sense of cilia in disease: The human ciliopathies","volume":"151C","author":"Baker","year":"2009","journal-title":"Am. J. Med. Genet. C Semin. Med. Genet."},{"key":"10.1016\/j.ajhg.2010.08.004_bib5","doi-asserted-by":"crossref","first-page":"949","DOI":"10.1016\/j.ajhg.2010.04.012","article-title":"Cranioectodermal dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene","volume":"86","author":"Walczak-Sztulpa","year":"2010","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2010.08.004_bib6","doi-asserted-by":"crossref","first-page":"483","DOI":"10.1038\/ng.581","article-title":"De novo mutations of SETBP1 cause Schinzel-Giedion syndrome","volume":"42","author":"Hoischen","year":"2010","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2010.08.004_bib7","doi-asserted-by":"crossref","first-page":"272","DOI":"10.1038\/nature08250","article-title":"Targeted capture and massively parallel sequencing of 12 human exomes","volume":"461","author":"Ng","year":"2009","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2010.08.004_bib8","doi-asserted-by":"crossref","first-page":"847","DOI":"10.1038\/nbt.1561","article-title":"Single-molecule sequencing of an individual human genome","volume":"27","author":"Pushkarev","year":"2009","journal-title":"Nat. Biotechnol."},{"key":"10.1016\/j.ajhg.2010.08.004_bib9","doi-asserted-by":"crossref","first-page":"60","DOI":"10.1038\/nature07484","article-title":"The diploid genome sequence of an Asian individual","volume":"456","author":"Wang","year":"2008","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2010.08.004_bib10","doi-asserted-by":"crossref","first-page":"110","DOI":"10.1101\/gr.097857.109","article-title":"Detection of nonneutral substitution rates on mammalian phylogenies","volume":"20","author":"Pollard","year":"2010","journal-title":"Genome Res."},{"key":"10.1016\/j.ajhg.2010.08.004_bib11","doi-asserted-by":"crossref","first-page":"961","DOI":"10.1038\/ng0906-961","article-title":"The ciliary proteome database: An integrated community resource for the\u00a0genetic and functional dissection of cilia","volume":"38","author":"Gherman","year":"2006","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2010.08.004_bib12","doi-asserted-by":"crossref","first-page":"3894","DOI":"10.1093\/nar\/gkf493","article-title":"Human non-synonymous SNPs: Server and survey","volume":"30","author":"Ramensky","year":"2002","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ajhg.2010.08.004_bib13","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1002\/ajmg.c.30227","article-title":"Ciliary biology: Understanding the cellular and genetic basis of human ciliopathies","volume":"151C","author":"Cardenas-Rodriguez","year":"2009","journal-title":"Am. J. Med. Genet. C Semin. Med. Genet."},{"key":"10.1016\/j.ajhg.2010.08.004_bib14","doi-asserted-by":"crossref","first-page":"435","DOI":"10.1034\/j.1600-0854.2003.t01-1-00103.x","article-title":"The intraflagellar transport machinery of Chlamydomonas reinhardtii","volume":"4","author":"Cole","year":"2003","journal-title":"Traffic"},{"issue":"Suppl. 1","key":"10.1016\/j.ajhg.2010.08.004_bib15","doi-asserted-by":"crossref","first-page":"S265","DOI":"10.1016\/j.mod.2009.06.702","article-title":"Wdr35 is required for mammalian ciliogenesis and Hh responsiveness","volume":"126","author":"Mill","year":"2009","journal-title":"Mech. Dev."},{"key":"10.1016\/j.ajhg.2010.08.004_bib16","doi-asserted-by":"crossref","first-page":"527","DOI":"10.1016\/S0092-8674(04)00412-X","article-title":"Decoding cilia function: Defining specialized genes required for compartmentalized cilia biogenesis","volume":"117","author":"Avidor-Reiss","year":"2004","journal-title":"Cell"},{"key":"10.1016\/j.ajhg.2010.08.004_bib17","doi-asserted-by":"crossref","first-page":"727","DOI":"10.1038\/ng2038","article-title":"IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy","volume":"39","author":"Beales","year":"2007","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2010.08.004_bib18","doi-asserted-by":"crossref","first-page":"706","DOI":"10.1016\/j.ajhg.2009.04.016","article-title":"DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III","volume":"84","author":"Dagoneau","year":"2009","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2010.08.004_bib19","doi-asserted-by":"crossref","first-page":"1140","DOI":"10.1002\/dvdy.21926","article-title":"Tulp3 is a critical repressor of mouse hedgehog signaling","volume":"238","author":"Cameron","year":"2009","journal-title":"Dev. Dyn."},{"key":"10.1016\/j.ajhg.2010.08.004_bib20","doi-asserted-by":"crossref","first-page":"424","DOI":"10.1093\/oxfordjournals.jhered.a111019","article-title":"Fat (fat) and tubby (tub): Two autosomal recessive mutations causing obesity syndromes in the mouse","volume":"81","author":"Coleman","year":"1990","journal-title":"J. Hered."},{"key":"10.1016\/j.ajhg.2010.08.004_bib21","doi-asserted-by":"crossref","first-page":"845","DOI":"10.1097\/00001756-199504190-00005","article-title":"Cochlear and retinal degeneration in the tubby mouse","volume":"6","author":"Ohlemiller","year":"1995","journal-title":"Neuroreport"},{"key":"10.1016\/j.ajhg.2010.08.004_bib22","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1093\/hmg\/9.2.155","article-title":"Retinal degeneration but not obesity is observed in null mutants of the tubby-like protein 1 gene","volume":"9","author":"Ikeda","year":"2000","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ajhg.2010.08.004_bib23","doi-asserted-by":"crossref","first-page":"1740","DOI":"10.1093\/hmg\/ddp113","article-title":"Tubby-like protein 3 (TULP3) regulates patterning in the mouse embryo through inhibition of Hedgehog signaling","volume":"18","author":"Norman","year":"2009","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ajhg.2010.08.004_bib24","doi-asserted-by":"crossref","first-page":"282","DOI":"10.1016\/j.ajhg.2010.07.007","article-title":"Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault syndrome","volume":"87","author":"Pierce","year":"2010","journal-title":"Am. J. Hum. Genet."}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929710004179?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929710004179?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2019,6,3]],"date-time":"2019-06-03T06:14:17Z","timestamp":1559542457000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929710004179"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,9]]},"references-count":24,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2010,9]]}},"alternative-id":["S0002929710004179"],"URL":"https:\/\/doi.org\/10.1016\/j.ajhg.2010.08.004","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2010,9]]}}}