{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T11:30:56Z","timestamp":1791286256817,"version":"4.1.0"},"reference-count":44,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2013,4,11]],"date-time":"2013-04-11T00:00:00Z","timestamp":1365638400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2013,4,11]],"date-time":"2013-04-11T00:00:00Z","timestamp":1365638400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Human Mutation"],"published-print":{"date-parts":[[2013,5]]},"DOI":"10.1002\/humu.22294","type":"journal-article","created":{"date-parts":[[2013,2,15]],"date-time":"2013-02-15T17:45:48Z","timestamp":1360950348000},"page":"714-724","source":"Crossref","is-referenced-by-count":132,"title":["Combined\n            <scp>NGS<\/scp>\n            Approaches Identify Mutations in the Intraflagellar Transport Gene\n            <i>IFT140<\/i>\n            in Skeletal Ciliopathies with Early Progressive Kidney Disease"],"prefix":"10.1155","volume":"34","author":[{"given":"Miriam","family":"Schmidts","sequence":"first","affiliation":[{"name":"Molecular Medicine Unit University College London (UCL) Institute of Child Health  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valeska","family":"Frank","sequence":"additional","affiliation":[{"name":"Center for Human Genetics  Bioscientia Ingelheim Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tobias","family":"Eisenberger","sequence":"additional","affiliation":[{"name":"Center for Human Genetics  Bioscientia Ingelheim Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saeed","family":"al Turki","sequence":"additional","affiliation":[{"name":"The Wellcome Trust Sanger Institute Wellcome Trust Genome Campus  Hinxton Cambridge UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Albane A.","family":"Bizet","sequence":"additional","affiliation":[{"name":"INSERM, U983 H\u00f4pital Necker\u2010Enfants Malades  Paris France"},{"name":"Universit\u00e9 Paris Descartes\u2010Sorbonne Paris Cit\u00e9 Institut Imagine  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dinu","family":"Antony","sequence":"additional","affiliation":[{"name":"Molecular Medicine Unit University College London (UCL) Institute of Child Health  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Suzanne","family":"Rix","sequence":"additional","affiliation":[{"name":"Molecular Medicine Unit University College London (UCL) Institute of Child Health  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christian","family":"Decker","sequence":"additional","affiliation":[{"name":"Center for Human Genetics  Bioscientia Ingelheim Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nadine","family":"Bachmann","sequence":"additional","affiliation":[{"name":"Center for Human Genetics  Bioscientia Ingelheim Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin","family":"Bald","sequence":"additional","affiliation":[{"name":"Department of Pediatric Nephrology  Olgahospital Klinikum Stuttgart Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tobias","family":"Vinke","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University Children's Hospital Heidelberg  Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Burkhard","family":"Toenshoff","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University Children's Hospital Heidelberg  Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natalia","family":"Di Donato","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics Dresden University  Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Theresa","family":"Neuhann","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics Dresden University  Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jane L.","family":"Hartley","sequence":"additional","affiliation":[{"name":"Liver Unit Birmingham Children's Hospital  Birmingham UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eamonn R.","family":"Maher","sequence":"additional","affiliation":[{"name":"Department of Medical and Molecular Genetics and Centre for Rare Diseases and Personalised Medicine University of Birmingham School of Medicine  Birmingham UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Radovan","family":"Bogdanovi\u0107","sequence":"additional","affiliation":[{"name":"Department of Nephrology Institute of Mother and Child Health Care of Serbia \u201cDr Vukan, \u010cupi\u0107\u201c  Belgrade Serbia"},{"name":"Faculty of Medicine University of Belgrade  Belgrade Serbia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amira","family":"Peco\u2010Anti\u0107","sequence":"additional","affiliation":[{"name":"Department of Nephrology University Children's Hospital  Belgrade Serbia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christoph","family":"Mache","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Medical University Graz  Graz Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthew E.","family":"Hurles","sequence":"additional","affiliation":[{"name":"The Wellcome Trust Sanger Institute Wellcome Trust Genome Campus  Hinxton Cambridge UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ivana","family":"Joksi\u0107","sequence":"additional","affiliation":[{"name":"Clinic for Gynecology and Obstetrics University Hospital  Belgrade Serbia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marija","family":"Gu\u0107\u2010\u0160\u0107eki\u0107","sequence":"additional","affiliation":[{"name":"Department of Nephrology Institute of Mother and Child Health Care of Serbia \u201cDr Vukan, \u010cupi\u0107\u201c  Belgrade Serbia"},{"name":"Faculty of Biology University of Belgrade  Belgrade Serbia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jelena","family":"Dobricic","sequence":"additional","affiliation":[{"name":"Institute for Oncology and Radiology of Serbia  Belgrade Serbia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mirjana","family":"Brankovic\u2010Magic","sequence":"additional","affiliation":[{"name":"Institute for Oncology and Radiology of Serbia  Belgrade Serbia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"UK10K","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hanno J.","family":"Bolz","sequence":"additional","affiliation":[{"name":"Center for Human Genetics  Bioscientia Ingelheim Germany"},{"name":"Department of Human Genetics University of Cologne  Cologne Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gregory J.","family":"Pazour","sequence":"additional","affiliation":[{"name":"Program in Molecular Medicine University of Massachusetts Medical School  Worcester Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philip L.","family":"Beales","sequence":"additional","affiliation":[{"name":"Molecular Medicine Unit University College London (UCL) Institute of Child Health  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter J.","family":"Scambler","sequence":"additional","affiliation":[{"name":"Molecular Medicine Unit University College London (UCL) Institute of Child Health  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sophie","family":"Saunier","sequence":"additional","affiliation":[{"name":"INSERM, U983 H\u00f4pital Necker\u2010Enfants Malades  Paris France"},{"name":"Universit\u00e9 Paris Descartes\u2010Sorbonne Paris Cit\u00e9 Institut Imagine  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hannah M.","family":"Mitchison","sequence":"additional","affiliation":[{"name":"Molecular Medicine Unit University College London (UCL) Institute of Child Health  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carsten","family":"Bergmann","sequence":"additional","affiliation":[{"name":"Center for Human Genetics  Bioscientia Ingelheim Germany"},{"name":"Center for Clinical Research University Hospital Freiburg  Freiburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,4,11]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature09534"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1091\/mbc.E07-08-0749"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth0410-248"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-6-37"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.30231"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng2038"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.10.001"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.04.016"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.756"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.806"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.60.5.426"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/bti486"},{"issue":"1","key":"e_1_2_6_14_1","first-page":"C15.5","article-title":"NGS\u2010panel targeting 150 cilia\u2010related disease genes improves diagnostic testing for the broad spectrum of ciliopathies","volume":"20","author":"Frank V","year":"2012","journal-title":"Eur J Hum Genet"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0906-961"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00973675"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrg2774"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.03.004"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0505328102"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrm3085"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2011080829"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.200805124"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cub.2008.11.020"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33416"},{"key":"e_1_2_6_25_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btp698"},{"key":"e_1_2_6_26_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btp352"},{"key":"e_1_2_6_27_1","doi-asserted-by":"publisher","DOI":"10.1007\/PL00000838"},{"key":"e_1_2_6_28_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21517"},{"key":"e_1_2_6_29_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9343(70)80051-1"},{"key":"e_1_2_6_30_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.107524.110"},{"key":"e_1_2_6_31_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2105-7-339"},{"key":"e_1_2_6_32_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.03.015"},{"key":"e_1_2_6_33_1","doi-asserted-by":"publisher","DOI":"10.1097\/SCS.0b013e3181ec69bb"},{"key":"e_1_2_6_34_1","volume-title":"Manipulating The Mouse Embryo: A Laboratory Manual","author":"Nagy A","year":"2003"},{"key":"e_1_2_6_35_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2009.10.036"},{"key":"e_1_2_6_36_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.52.10.758"},{"key":"e_1_2_6_37_1","doi-asserted-by":"publisher","DOI":"10.1002\/dvdy.21551"},{"key":"e_1_2_6_38_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.03.006"},{"key":"e_1_2_6_39_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-9822(01)00122-1"},{"key":"e_1_2_6_40_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddr013"},{"key":"e_1_2_6_41_1","doi-asserted-by":"publisher","DOI":"10.1038\/nprot.2010.5"},{"key":"e_1_2_6_42_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet\u20102012\u2010101284"},{"key":"e_1_2_6_43_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth0810-575"},{"key":"e_1_2_6_44_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.12.004"},{"key":"e_1_2_6_45_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jsb.2011.09.006"}],"container-title":["Human Mutation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fhumu.22294","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/humu.22294","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/humu.22294","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/humu.22294","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,12,29]],"date-time":"2022-12-29T16:54:22Z","timestamp":1672332862000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/humu.22294"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,4,11]]},"references-count":44,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2013,5]]}},"alternative-id":["10.1002\/humu.22294"],"URL":"https:\/\/doi.org\/10.1002\/humu.22294","archive":["Portico"],"relation":{},"ISSN":["1059-7794","1098-1004"],"issn-type":[{"value":"1059-7794","type":"print"},{"value":"1098-1004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,4,11]]}}}