{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T01:43:18Z","timestamp":1790991798155,"version":"4.1.0"},"reference-count":13,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2019,8,1]],"date-time":"2019-08-01T00:00:00Z","timestamp":1564617600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt C"],"published-print":{"date-parts":[[2019,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>In 2016, we published an article applying Gene Ontology Analysis to the genes that had been reported to be associated with arthrogryposis (multiple congenital contractures) (Hall &amp; Kiefer, 2016). At that time, 320 genes had been reported to have mutations associated with arthrogryposis. All were associated with decreased fetal movement. These 320 genes were analyzed by biological process and cellular component categories, and yielded 22 distinct groupings. Since that time, another 82 additional genes have been reported, now totaling 402 genes, which when mutated, are associated with arthrogryposis (arthrogryposis multiplex congenita). So, we decided to update the analysis in order to stimulate further research and possible treatment. Now, 29 groupings can be identified, but only 19 groups have more than one gene.<\/jats:p>","DOI":"10.1002\/ajmg.c.31733","type":"journal-article","created":{"date-parts":[[2019,8,1]],"date-time":"2019-08-01T16:09:29Z","timestamp":1564675769000},"page":"310-326","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":54,"title":["Gene ontology analysis of arthrogryposis (multiple congenital contractures)"],"prefix":"10.1002","volume":"181","author":[{"given":"Jeff","family":"Kiefer","sequence":"first","affiliation":[{"name":"Systems Oncology  Scottsdale Arizona"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5062-491X","authenticated-orcid":false,"given":"Judith G.","family":"Hall","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics University of British Columbia and BC Children's Hospital  Vancouver British Columbia Canada"},{"name":"Department of Pediatrics University of British Columbia and BC Children's Hospital  Vancouver British Columbia Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,8]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI84457"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btp101"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkq1018"},{"key":"e_1_2_6_5_1","first-page":"D364","article-title":"CORUM: The comprehensive resource of mammalian protein complexes\u20102019","volume":"33","author":"Giurgiu M.","year":"2018","journal-title":"Nucleic Acids Research"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/bdra.20611"},{"key":"e_1_2_6_7_1","volume-title":"Emery and Rimoin's principle and practice of medical genetics","author":"Hall J. 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