{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,13]],"date-time":"2026-05-13T11:07:37Z","timestamp":1778670457776,"version":"3.51.4"},"reference-count":27,"publisher":"Springer Science and Business Media LLC","issue":"4","license":[{"start":{"date-parts":[[2017,2,20]],"date-time":"2017-02-20T00:00:00Z","timestamp":1487548800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2017,2,20]],"date-time":"2017-02-20T00:00:00Z","timestamp":1487548800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"funder":[{"DOI":"10.13039\/100000051","name":"National Human Genome Research Institute","doi-asserted-by":"publisher","award":["Intramural program"],"award-info":[{"award-number":["Intramural program"]}],"id":[{"id":"10.13039\/100000051","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Hum Genet"],"published-print":{"date-parts":[[2017,4]]},"DOI":"10.1007\/s00439-017-1765-z","type":"journal-article","created":{"date-parts":[[2017,2,20]],"date-time":"2017-02-20T11:55:58Z","timestamp":1487591758000},"page":"399-408","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":35,"title":["Mutations in KIAA0753 cause Joubert syndrome associated with growth hormone deficiency"],"prefix":"10.1007","volume":"136","author":[{"name":"NISC Comparative Sequencing Program","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joshi","family":"Stephen","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thierry","family":"Vilboux","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luhe","family":"Mian","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chulaluck","family":"Kuptanon","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Courtney M.","family":"Sinclair","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Deniz","family":"Yildirimli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dawn M.","family":"Maynard","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joy","family":"Bryant","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roxanne","family":"Fischer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Meghana","family":"Vemulapalli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James C.","family":"Mullikin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marjan","family":"Huizing","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"William A.","family":"Gahl","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"May Christine V.","family":"Malicdan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Meral","family":"Gunay-Aygun","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2017,2,20]]},"reference":[{"key":"1765_CR1","doi-asserted-by":"publisher","first-page":"248","DOI":"10.1038\/nmeth0410-248","volume":"7","author":"IA Adzhubei","year":"2010","unstructured":"Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, Kondrashov AS, Sunyaev SR (2010) A method and server for predicting damaging missense mutations. Nat Methods 7:248\u2013249. doi:\n                    10.1038\/nmeth0410-248","journal-title":"Nat Methods"},{"key":"1765_CR2","doi-asserted-by":"publisher","first-page":"514","DOI":"10.1136\/jmedgenet-2015-103087","volume":"52","author":"R Bachmann-Gagescu","year":"2015","unstructured":"Bachmann-Gagescu R, Dempsey JC, Phelps IG, O\u2019Roak BJ, Knutzen DM, Rue TC, Ishak GE, Isabella CR, Gorden N, Adkins J, Boyle EA, de Lacy N, O\u2019Day D, Alswaid A, Ramadevi AR, Lingappa L, Lourenco C, Martorell L, Garcia-Cazorla A, Ozyurek H, Haliloglu G, Tuysuz B, Topcu M, Chance P, Parisi MA, Glass IA, Shendure J, Doherty D (2015) Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. J Med Genet 52:514\u2013522. doi:\n                    10.1136\/jmedgenet-2015-103087","journal-title":"J Med Genet"},{"key":"1765_CR3","doi-asserted-by":"publisher","first-page":"53","DOI":"10.1038\/nature07517","volume":"456","author":"DR Bentley","year":"2008","unstructured":"Bentley DR, Balasubramanian S, Swerdlow HP, Smith GP, Milton J, Brown CG, Hall KP, Evers DJ, Barnes CL, Bignell HR, Boutell JM, Bryant J, Carter RJ, Keira Cheetham R, Cox AJ, Ellis DJ, Flatbush MR, Gormley NA, Humphray SJ, Irving LJ, Karbelashvili MS, Kirk SM, Li H, Liu X, Maisinger KS, Murray LJ, Obradovic B, Ost T, Parkinson ML, Pratt MR, Rasolonjatovo IM, Reed MT, Rigatti R, Rodighiero C, Ross MT, Sabot A, Sankar SV, Scally A, Schroth GP, Smith ME, Smith VP, Spiridou A, Torrance PE, Tzonev SS, Vermaas EH, Walter K, Wu X, Zhang L, Alam MD, Anastasi C, Aniebo IC, Bailey DM, Bancarz IR, Banerjee S, Barbour SG, Baybayan PA, Benoit VA, Benson KF, Bevis C, Black PJ, Boodhun A, Brennan JS, Bridgham JA, Brown RC, Brown AA, Buermann DH, Bundu AA, Burrows JC, Carter NP, Castillo N, Chiara ECM, Chang S, Neil Cooley R, Crake NR, Dada OO, Diakoumakos KD, Dominguez-Fernandez B, Earnshaw DJ, Egbujor UC, Elmore DW, Etchin SS, Ewan MR, Fedurco M, Fraser LJ, Fuentes Fajardo KV, Scott Furey W, George D, Gietzen KJ, Goddard CP, Golda GS, Granieri PA, Green DE, Gustafson DL, Hansen NF, Harnish K, Haudenschild CD, Heyer NI, Hims MM, Ho JT, Horgan AM et al (2008) Accurate whole human genome sequencing using reversible terminator chemistry. Nature 456:53\u201359. doi:\n                    10.1038\/nature07517","journal-title":"Nature"},{"key":"1765_CR4","doi-asserted-by":"publisher","first-page":"1009","DOI":"10.1126\/science.1240985","volume":"341","author":"S Bhogaraju","year":"2013","unstructured":"Bhogaraju S, Cajanek L, Fort C, Blisnick T, Weber K, Taschner M, Mizuno N, Lamla S, Bastin P, Nigg EA, Lorentzen E (2013) Molecular basis of tubulin transport within the cilium by IFT74 and IFT81. Science 341:1009\u20131012. doi:\n                    10.1126\/science.1240985","journal-title":"Science"},{"key":"1765_CR5","doi-asserted-by":"publisher","first-page":"1665","DOI":"10.1101\/gr.092841.109","volume":"19","author":"LG Biesecker","year":"2009","unstructured":"Biesecker LG, Mullikin JC, Facio FM, Turner C, Cherukuri PF, Blakesley RW, Bouffard GG, Chines PS, Cruz P, Hansen NF, Teer JK, Maskeri B, Young AC, Program NCS, Manolio TA, Wilson AF, Finkel T, Hwang P, Arai A, Remaley AT, Sachdev V, Shamburek R, Cannon RO, Green ED (2009) The ClinSeq Project: piloting large-scale genome sequencing for research in genomic medicine. Genome Res 19:1665\u20131674. doi:\n                    10.1101\/gr.092841.109","journal-title":"Genome Res"},{"key":"1765_CR6","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddv488","author":"V Chevrier","year":"2015","unstructured":"Chevrier V, Bruel AL, van Dam TJ, Franco B, Scalzo ML, Lembo F, Audebert S, Baudelet E, Isnardon D, Bole A, Borg JP, Kuentz P, Thevenon J, Burglen L, Faivre L, Riviere JB, Huynen MA, Birnbaum D, Rosnet O, Thauvin-Robinet C (2015) OFIP\/KIAA0753 forms a complex with OFD1 and FOR20 at pericentriolar satellites and centrosomes and is mutated in one individual with Oral-Facial-Digital Syndrome. Hum Mol Genet. doi:\n                    10.1093\/hmg\/ddv488","journal-title":"Hum Mol Genet"},{"key":"1765_CR7","doi-asserted-by":"publisher","first-page":"201","DOI":"10.1016\/j.tcb.2012.02.001","volume":"22","author":"PG Czarnecki","year":"2012","unstructured":"Czarnecki PG, Shah JV (2012) The ciliary transition zone: from morphology and molecules to medicine. Trends Cell Biol 22:201\u2013210. doi:\n                    10.1016\/j.tcb.2012.02.001","journal-title":"Trends Cell Biol"},{"key":"1765_CR8","doi-asserted-by":"publisher","first-page":"664","DOI":"10.1016\/j.cub.2014.01.067","volume":"24","author":"EN Firat-Karalar","year":"2014","unstructured":"Firat-Karalar EN, Rauniyar N, Yates JR 3rd, Stearns T (2014) Proximity interactions among centrosome components identify regulators of centriole duplication. Curr Biol 24:664\u2013670. doi:\n                    10.1016\/j.cub.2014.01.067","journal-title":"Curr Biol"},{"key":"1765_CR9","doi-asserted-by":"publisher","first-page":"296","DOI":"10.1002\/ajmg.c.30225","volume":"151C","author":"M Gunay-Aygun","year":"2009","unstructured":"Gunay-Aygun M (2009) Liver and kidney disease in ciliopathies. Am J Med Genet C Semin Med Genet 151C:296\u2013306. doi:\n                    10.1002\/ajmg.c.30225","journal-title":"Am J Med Genet C Semin Med Genet"},{"key":"1765_CR10","doi-asserted-by":"publisher","first-page":"1520","DOI":"10.1038\/emboj.2011.63","volume":"30","author":"L Jakobsen","year":"2011","unstructured":"Jakobsen L, Vanselow K, Skogs M, Toyoda Y, Lundberg E, Poser I, Falkenby LG, Bennetzen M, Westendorf J, Nigg EA, Uhlen M, Hyman AA, Andersen JS (2011) Novel asymmetrically localizing components of human centrosomes identified by complementary proteomics methods. EMBO J 30:1520\u20131535. doi:\n                    10.1038\/emboj.2011.63","journal-title":"EMBO J"},{"key":"1765_CR11","doi-asserted-by":"publisher","DOI":"10.7554\/eLife07519","author":"A Kodani","year":"2015","unstructured":"Kodani A, Yu TW, Johnson JR, Jayaraman D, Johnson TL, Al-Gazali L, Sztriha L, Partlow JN, Kim H, Krup AL, Dammermann A, Krogan NJ, Walsh CA, Reiter JF (2015) Centriolar satellites assemble centrosomal microcephaly proteins to recruit CDK2 and promote centriole duplication. Elife. doi:\n                    10.7554\/eLife07519","journal-title":"Elife"},{"key":"1765_CR12","doi-asserted-by":"publisher","first-page":"285","DOI":"10.1038\/nature19057","volume":"536","author":"M Lek","year":"2016","unstructured":"Lek M, Karczewski KJ, Minikel EV, Samocha KE, Banks E, Fennell T, O\u2019Donnell-Luria AH, Ware JS, Hill AJ, Cummings BB, Tukiainen T, Birnbaum DP, Kosmicki JA, Duncan LE, Estrada K, Zhao F, Zou J, Pierce-Hoffman E, Berghout J, Cooper DN, Deflaux N, DePristo M, Do R, Flannick J, Fromer M, Gauthier L, Goldstein J, Gupta N, Howrigan D, Kiezun A, Kurki MI, Moonshine AL, Natarajan P, Orozco L, Peloso GM, Poplin R, Rivas MA, Ruano-Rubio V, Rose SA, Ruderfer DM, Shakir K, Stenson PD, Stevens C, Thomas BP, Tiao G, Tusie-Luna MT, Weisburd B, Won HH, Yu D, Altshuler DM, Ardissino D, Boehnke M, Danesh J, Donnelly S, Elosua R, Florez JC, Gabriel SB, Getz G, Glatt SJ, Hultman CM, Kathiresan S, Laakso M, McCarroll S, McCarthy MI, McGovern D, McPherson R, Neale BM, Palotie A, Purcell SM, Saleheen D, Scharf JM, Sklar P, Sullivan PF, Tuomilehto J, Tsuang MT, Watkins HC, Wilson JG, Daly MJ, MacArthur DG (2016) Analysis of protein-coding genetic variation in 60,706 humans. Nature 536:285\u2013291. doi:\n                    10.1038\/nature19057","journal-title":"Nature"},{"key":"1765_CR13","doi-asserted-by":"publisher","first-page":"1221","DOI":"10.1210\/jc.2014-3852","volume":"100","author":"AK Lucas-Herald","year":"2015","unstructured":"Lucas-Herald AK, Kinning E, Iida A, Wang Z, Miyake N, Ikegawa S, McNeilly J, Ahmed SF (2015) A case of functional growth hormone deficiency and early growth retardation in a child with IFT172 mutations. J Clin Endocrinol Metab 100:1221\u20131224. doi:\n                    10.1210\/jc.2014-3852","journal-title":"J Clin Endocrinol Metab"},{"key":"1765_CR14","doi-asserted-by":"publisher","first-page":"863","DOI":"10.1101\/gr.176601","volume":"11","author":"PC Ng","year":"2001","unstructured":"Ng PC, Henikoff S (2001) Predicting deleterious amino acid substitutions. Genome Res 11:863\u2013874. doi:\n                    10.1101\/gr.176601","journal-title":"Genome Res"},{"key":"1765_CR15","doi-asserted-by":"publisher","first-page":"326","DOI":"10.1002\/ajmg.c.30229","volume":"151C","author":"MA Parisi","year":"2009","unstructured":"Parisi MA (2009) Clinical and molecular features of Joubert syndrome and related disorders. Am J Med Genet C Semin Med Genet 151C:326\u2013340. doi:\n                    10.1002\/ajmg.c.30229","journal-title":"Am J Med Genet C Semin Med Genet"},{"key":"1765_CR16","unstructured":"Parisi M, Glass I (1993) Joubert syndrome and related disorders. In: Pagon RA, Adam MP, Ardinger HH et al (eds) GeneReviews\u00ae, University of Washington, Seattle, WA"},{"key":"1765_CR17","doi-asserted-by":"publisher","first-page":"904","DOI":"10.1038\/ncb2569","volume":"14","author":"LB Pedersen","year":"2012","unstructured":"Pedersen LB, Christensen ST (2012) Regulating intraflagellar transport. Nat Cell Biol 14:904\u2013906. doi:\n                    10.1038\/ncb2569","journal-title":"Nat Cell Biol"},{"key":"1765_CR18","doi-asserted-by":"publisher","first-page":"23","DOI":"10.1016\/S0070-2153(08)00802-8","volume":"85","author":"LB Pedersen","year":"2008","unstructured":"Pedersen LB, Rosenbaum JL (2008) Intraflagellar transport (Ift): role in ciliary assembly, resorption and signalling. Ciliary Funct Mamm Dev 85:23\u201361. doi:\n                    10.1016\/S0070-2153(08)00802-8","journal-title":"Ciliary Funct Mamm Dev"},{"key":"1765_CR20","doi-asserted-by":"publisher","first-page":"894","DOI":"10.1016\/S1474-4422(13)70136-4","volume":"12","author":"M Romani","year":"2013","unstructured":"Romani M, Micalizzi A, Valente EM (2013) Joubert syndrome: congenital cerebellar ataxia with the molar tooth. Lancet Neurol 12:894\u2013905. doi:\n                    10.1016\/S1474-4422(13)70136-4","journal-title":"Lancet Neurol"},{"key":"1765_CR21","doi-asserted-by":"publisher","first-page":"293","DOI":"10.1186\/s13059-015-0858-z","volume":"16","author":"AA Sanders","year":"2015","unstructured":"Sanders AA, de Vrieze E, Alazami AM, Alzahrani F, Malarkey EB, Sorusch N, Tebbe L, Kuhns S, van Dam TJ, Alhashem A, Tabarki B, Lu Q, Lambacher NJ, Kennedy JE, Bowie RV, Hetterschijt L, van Beersum S, van Reeuwijk J, Boldt K, Kremer H, Kesterson RA, Monies D, Abouelhoda M, Roepman R, Huynen MH, Ueffing M, Russell RB, Wolfrum U, Yoder BK, van Wijk E, Alkuraya FS, Blacque OE (2015) KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome. Genome Biol 16:293. doi:\n                    10.1186\/s13059-015-0858-z","journal-title":"Genome Biol"},{"key":"1765_CR22","doi-asserted-by":"publisher","first-page":"361","DOI":"10.1038\/nmeth.2890","volume":"11","author":"JM Schwarz","year":"2014","unstructured":"Schwarz JM, Cooper DN, Schuelke M, Seelow D (2014) MutationTaster2: mutation prediction for the deep-sequencing age. Nat Methods 11:361\u2013362. doi:\n                    10.1038\/nmeth.2890","journal-title":"Nat Methods"},{"key":"1765_CR23","doi-asserted-by":"publisher","first-page":"1284","DOI":"10.1038\/cr.2013.127","volume":"23","author":"M Shen","year":"2013","unstructured":"Shen M, Cai Y, Yang Y, Yan X, Liu X, Zhou T (2013) Centrosomal protein FOR20 is essential for S-phase progression by recruiting Plk1 to centrosomes. Cell Res 23:1284\u20131295. doi:\n                    10.1038\/cr.2013.127","journal-title":"Cell Res"},{"key":"1765_CR24","doi-asserted-by":"publisher","first-page":"R145","DOI":"10.1093\/hmg\/ddq333","volume":"19","author":"JK Teer","year":"2010","unstructured":"Teer JK, Mullikin JC (2010) Exome sequencing: the sweet spot before whole genomes. Hum Mol Genet 19:R145\u2013R151. doi:\n                    10.1093\/hmg\/ddq333","journal-title":"Hum Mol Genet"},{"key":"1765_CR25","doi-asserted-by":"publisher","first-page":"599","DOI":"10.1093\/bioinformatics\/btr711","volume":"28","author":"JK Teer","year":"2012","unstructured":"Teer JK, Green ED, Mullikin JC, Biesecker LG (2012) VarSifter: visualizing and analyzing exome-scale sequence variation data on a desktop computer. Bioinformatics 28:599\u2013600. doi:\n                    10.1093\/bioinformatics\/btr711","journal-title":"Bioinformatics"},{"key":"1765_CR26","doi-asserted-by":"publisher","first-page":"1260419","DOI":"10.1126\/science.1260419","volume":"347","author":"M Uhlen","year":"2015","unstructured":"Uhlen M, Fagerberg L, Hallstrom BM, Lindskog C, Oksvold P, Mardinoglu A, Sivertsson A, Kampf C, Sjostedt E, Asplund A, Olsson I, Edlund K, Lundberg E, Navani S, Szigyarto CA, Odeberg J, Djureinovic D, Takanen JO, Hober S, Alm T, Edqvist PH, Berling H, Tegel H, Mulder J, Rockberg J, Nilsson P, Schwenk JM, Hamsten M, von Feilitzen K, Forsberg M, Persson L, Johansson F, Zwahlen M, von Heijne G, Nielsen J, Ponten F (2015) Proteomics. Tissue-based map of the human proteome. Science 347:1260419. doi:\n                    10.1126\/science.1260419","journal-title":"Science"},{"key":"1765_CR27","doi-asserted-by":"publisher","first-page":"950","DOI":"10.1038\/ncb2560","volume":"14","author":"Q Wei","year":"2012","unstructured":"Wei Q, Zhang YX, Li YJ, Zhang Q, Ling K, Hu JH (2012) The BBSome controls IFT assembly and turnaround in cilia. Nat Cell Biol 14:950. doi:\n                    10.1038\/ncb2560","journal-title":"Nat Cell Biol"},{"key":"1765_CR28","doi-asserted-by":"publisher","DOI":"10.7554\/eLife11324","author":"W Zhang","year":"2016","unstructured":"Zhang W, Kim PJ, Chen Z, Lokman H, Qiu L, Zhang K, Rozen SG, Tan EK, Je HS, Zeng L (2016) MiRNA-128 regulates the proliferation and neurogenesis of neural precursors by targeting PCM1 in the developing cortex. Elife. doi:\n                    10.7554\/eLife11324","journal-title":"Elife"}],"container-title":["Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00439-017-1765-z.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00439-017-1765-z\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00439-017-1765-z.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,5,16]],"date-time":"2020-05-16T13:59:07Z","timestamp":1589637547000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00439-017-1765-z"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,2,20]]},"references-count":27,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2017,4]]}},"alternative-id":["1765"],"URL":"https:\/\/doi.org\/10.1007\/s00439-017-1765-z","relation":{},"ISSN":["0340-6717","1432-1203"],"issn-type":[{"value":"0340-6717","type":"print"},{"value":"1432-1203","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,2,20]]},"assertion":[{"value":"29 November 2016","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"8 February 2017","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"20 February 2017","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Compliance with ethical standards"}},{"value":"All authors declare no conflict of interest.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}},{"value":"This work was supported by the Intramural Research Program at the National Human Genome Research Institute, National Institutes of Health.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Funding"}}]}}