{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,9]],"date-time":"2026-11-09T05:19:46Z","timestamp":1794201586036,"version":"4.8.0"},"reference-count":25,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2019,1,1]],"date-time":"2019-01-01T00:00:00Z","timestamp":1546300800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2019,7,3]],"date-time":"2019-07-03T00:00:00Z","timestamp":1562112000000},"content-version":"vor","delay-in-days":183,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["DK076683"],"award-info":[{"award-number":["DK076683"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["DK068306"],"award-info":[{"award-number":["DK068306"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["Basic Science Research Program"],"award-info":[{"award-number":["Basic Science Research Program"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003725","name":"National Research Foundation of Korea","doi-asserted-by":"publisher","award":["2018R1A2A3074572"],"award-info":[{"award-number":["2018R1A2A3074572"]}],"id":[{"id":"10.13039\/501100003725","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003725","name":"National Research Foundation of Korea","doi-asserted-by":"publisher","award":["2018R1A5A2025079"],"award-info":[{"award-number":["2018R1A5A2025079"]}],"id":[{"id":"10.13039\/501100003725","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003725","name":"National Research Foundation of Korea","doi-asserted-by":"publisher","award":["Allen Distinguished Investigator Program"],"award-info":[{"award-number":["Allen Distinguished Investigator Program"]}],"id":[{"id":"10.13039\/501100003725","id-type":"DOI","asserted-by":"publisher"}]},{"name":"The Paul G. Allen Frontiers Group","id":[{"id":"https:\/\/ror.org\/01degd278","id-type":"ROR","asserted-by":"crossref"}]},{"DOI":"10.13039\/100000968","name":"American Heart Association","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000968","id-type":"DOI","asserted-by":"publisher"}]},{"name":"NIH-NHLBI","award":["Program of Excellence in Glycoscience HL107147"],"award-info":[{"award-number":["Program of Excellence in Glycoscience HL107147"]}]},{"name":"NIH-NHLBI","award":["Mark Lauer Pediatric Research Grant"],"award-info":[{"award-number":["Mark Lauer Pediatric Research Grant"]}]},{"name":"NIH-NHLBI","award":["Leopoldina Fellowship Program"],"award-info":[{"award-number":["Leopoldina Fellowship Program"]}]},{"name":"German National Academy of Sciences Leopoldina","award":["LPDS 2015-07"],"award-info":[{"award-number":["LPDS 2015-07"]}],"id":[{"id":"https:\/\/ror.org\/03v0k6341","id-type":"ROR","asserted-by":"crossref"}]}],"content-domain":{"domain":["ajhg.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[2019,1]]},"DOI":"10.1016\/j.ajhg.2018.11.003","type":"journal-article","created":{"date-parts":[[2019,1,3]],"date-time":"2019-01-03T11:42:17Z","timestamp":1546515737000},"page":"45-54","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":54,"title":["Mutations of ADAMTS9 Cause Nephronophthisis-Related Ciliopathy"],"prefix":"10.1016","volume":"104","author":[{"given":"Yo Jun","family":"Choi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan","family":"Halbritter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniela A.","family":"Braun","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Markus","family":"Schueler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Schapiro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John Hoon","family":"Rim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sumeda","family":"Nandadasa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Won-il","family":"Choi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eugen","family":"Widmeier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shirlee","family":"Shril","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Friederike","family":"K\u00f6rber","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sidharth K.","family":"Sethi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard P.","family":"Lifton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bodo B.","family":"Beck","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Suneel S.","family":"Apte","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heon Yung","family":"Gee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Friedhelm","family":"Hildebrandt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ajhg.2018.11.003_bib1","doi-asserted-by":"crossref","first-page":"1855","DOI":"10.1681\/ASN.2006121344","article-title":"Nephronophthisis-associated ciliopathies","volume":"18","author":"Hildebrandt","year":"2007","journal-title":"J.\u00a0Am. Soc. Nephrol."},{"key":"10.1016\/j.ajhg.2018.11.003_bib2","doi-asserted-by":"crossref","first-page":"1533","DOI":"10.1056\/NEJMra1010172","article-title":"Ciliopathies","volume":"364","author":"Hildebrandt","year":"2011","journal-title":"N.\u00a0Engl. J. Med."},{"key":"10.1016\/j.ajhg.2018.11.003_bib3","doi-asserted-by":"crossref","first-page":"a028191","DOI":"10.1101\/cshperspect.a028191","article-title":"Ciliopathies","volume":"9","author":"Braun","year":"2017","journal-title":"Cold Spring Harb. Perspect. Biol."},{"key":"10.1016\/j.ajhg.2018.11.003_bib4","doi-asserted-by":"crossref","first-page":"865","DOI":"10.1007\/s00439-013-1297-0","article-title":"Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a\u00a0nephronophthisis-related ciliopathy","volume":"132","author":"Halbritter","year":"2013","journal-title":"Hum. Genet."},{"key":"10.1016\/j.ajhg.2018.11.003_bib5","doi-asserted-by":"crossref","first-page":"468","DOI":"10.1038\/ki.2015.317","article-title":"Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity","volume":"89","author":"Braun","year":"2016","journal-title":"Kidney Int."},{"key":"10.1016\/j.ajhg.2018.11.003_bib6","first-page":"1347","article-title":"Parametric and nonparametric linkage analysis: A unified multipoint approach","volume":"58","author":"Kruglyak","year":"1996","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2018.11.003_bib7","doi-asserted-by":"crossref","first-page":"1945","DOI":"10.1086\/302911","article-title":"Parametric and nonparametric multipoint linkage analysis with imprinting and two-locus-trait models: Application to mite sensitization","volume":"66","author":"Strauch","year":"2000","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2018.11.003_bib8","doi-asserted-by":"crossref","first-page":"12","DOI":"10.1038\/75514","article-title":"Allegro, a new computer program for multipoint linkage analysis","volume":"25","author":"Gudbjartsson","year":"2000","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2018.11.003_bib9","doi-asserted-by":"crossref","first-page":"e1000353","DOI":"10.1371\/journal.pgen.1000353","article-title":"A systematic approach to mapping recessive disease genes in individuals from outbred populations","volume":"5","author":"Hildebrandt","year":"2009","journal-title":"PLoS Genet."},{"key":"10.1016\/j.ajhg.2018.11.003_bib10","doi-asserted-by":"crossref","first-page":"880","DOI":"10.1038\/ki.2013.450","article-title":"Whole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies","volume":"85","author":"Gee","year":"2014","journal-title":"Kidney Int."},{"key":"10.1016\/j.ajhg.2018.11.003_bib11","doi-asserted-by":"crossref","first-page":"756","DOI":"10.1136\/jmedgenet-2012-100973","article-title":"High-throughput mutation analysis in patients with a nephronophthisis-associated ciliopathy applying multiplexed barcoded array-based PCR amplification and next-generation sequencing","volume":"49","author":"Halbritter","year":"2012","journal-title":"J.\u00a0Med. Genet."},{"key":"10.1016\/j.ajhg.2018.11.003_bib12","doi-asserted-by":"crossref","first-page":"2725","DOI":"10.1038\/nprot.2014.181","article-title":"3D spheroid model of mIMCD3 cells for studying ciliopathies and renal epithelial disorders","volume":"9","author":"Giles","year":"2014","journal-title":"Nat. Protoc."},{"key":"10.1016\/j.ajhg.2018.11.003_bib13","doi-asserted-by":"crossref","first-page":"1048","DOI":"10.1038\/nature08895","article-title":"Functional genomic screen for modulators of ciliogenesis and cilium length","volume":"464","author":"Kim","year":"2010","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2018.11.003_bib14","doi-asserted-by":"crossref","first-page":"1519","DOI":"10.1016\/j.celrep.2015.05.005","article-title":"ADAMTS9-mediated extracellular matrix dynamics regulates umbilical cord vascular smooth muscle differentiation and rotation","volume":"11","author":"Nandadasa","year":"2015","journal-title":"Cell Rep."},{"key":"10.1016\/j.ajhg.2018.11.003_bib15","doi-asserted-by":"crossref","first-page":"1018","DOI":"10.1038\/nature04117","article-title":"Vertebrate smoothened functions at the primary cilium","volume":"437","author":"Corbit","year":"2005","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2018.11.003_bib16","doi-asserted-by":"crossref","first-page":"1910","DOI":"10.1128\/MCB.01089-09","article-title":"Kinetics of hedgehog-dependent full-length Gli3 accumulation in primary cilia and subsequent degradation","volume":"30","author":"Wen","year":"2010","journal-title":"Mol. Cell. Biol."},{"key":"10.1016\/j.ajhg.2018.11.003_bib17","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1016\/j.ajhg.2014.12.002","article-title":"DCDC2 mutations cause a renal-hepatic ciliopathy by disrupting Wnt signaling","volume":"96","author":"Schueler","year":"2015","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2018.11.003_bib18","doi-asserted-by":"crossref","first-page":"9503","DOI":"10.1074\/jbc.M211009200","article-title":"Characterization of ADAMTS-9 and ADAMTS-20 as a distinct ADAMTS subfamily related to Caenorhabditis elegans GON-1","volume":"278","author":"Somerville","year":"2003","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.ajhg.2018.11.003_bib19","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1016\/j.matbio.2015.03.001","article-title":"Insights on ADAMTS proteases and ADAMTS-like proteins from mammalian genetics","volume":"44\u201346","author":"Dubail","year":"2015","journal-title":"Matrix Biol."},{"key":"10.1016\/j.ajhg.2018.11.003_bib20","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1016\/j.matbio.2018.06.002","article-title":"ADAMTS proteins in human disorders","volume":"71\u201372","author":"Mead","year":"2018","journal-title":"Matrix Biol."},{"key":"10.1016\/j.ajhg.2018.11.003_bib21","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1186\/s13059-015-0676-3","article-title":"The ADAMTS (A Disintegrin and Metalloproteinase with Thrombospondin motifs) family","volume":"16","author":"Kelwick","year":"2015","journal-title":"Genome Biol."},{"key":"10.1016\/j.ajhg.2018.11.003_bib22","doi-asserted-by":"crossref","first-page":"702","DOI":"10.1002\/dvg.22784","article-title":"A new Adamts9 conditional mouse allele identifies its non-redundant role in interdigital web regression","volume":"52","author":"Dubail","year":"2014","journal-title":"Genesis."},{"key":"10.1016\/j.ajhg.2018.11.003_bib23","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1038\/ng.519","article-title":"AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis","volume":"42","author":"Louie","year":"2010","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2018.11.003_bib24","doi-asserted-by":"crossref","first-page":"652","DOI":"10.1016\/j.ceb.2012.06.002","article-title":"The extracellular matrix and ciliary signaling","volume":"24","author":"Seeger-Nukpezah","year":"2012","journal-title":"Curr. Opin. Cell Biol."},{"key":"10.1016\/j.ajhg.2018.11.003_bib25","doi-asserted-by":"crossref","first-page":"1112","DOI":"10.1038\/nmat4994","article-title":"Organoid cystogenesis reveals a critical role of microenvironment in human polycystic kidney disease","volume":"16","author":"Cruz","year":"2017","journal-title":"Nat. Mater."}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929718304063?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929718304063?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2019,9,24]],"date-time":"2019-09-24T08:18:47Z","timestamp":1569313127000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929718304063"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,1]]},"references-count":25,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2019,1]]}},"alternative-id":["S0002929718304063"],"URL":"https:\/\/doi.org\/10.1016\/j.ajhg.2018.11.003","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2019,1]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Mutations of ADAMTS9 Cause Nephronophthisis-Related Ciliopathy","name":"articletitle","label":"Article Title"},{"value":"The American Journal of Human Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ajhg.2018.11.003","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2018 American Society of Human Genetics.","name":"copyright","label":"Copyright"}]}}