{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T10:59:53Z","timestamp":1791197993224,"version":"4.1.0"},"reference-count":14,"publisher":"Oxford University Press (OUP)","issue":"2","license":[{"start":{"date-parts":[[2014,10,1]],"date-time":"2014-10-01T00:00:00Z","timestamp":1412121600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2014,10,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>In this commentary, Philip Hieter and Kym Boycott discuss the importance of model organisms for understanding pathogenesis of rare human genetic diseases, and highlight the work of Brooks et al., \u201cDysfunction of 60S ribosomal protein L10 (RPL10) disrupts neurodevelopment and causes X-linked microcephaly in humans,\u201d published in this issue of GENETICS.<\/jats:p>","DOI":"10.1534\/genetics.114.170217","type":"journal-article","created":{"date-parts":[[2014,10,14]],"date-time":"2014-10-14T16:09:36Z","timestamp":1413302976000},"page":"443-445","source":"Crossref","is-referenced-by-count":10,"title":["Understanding Rare Disease Pathogenesis: A Grand Challenge for Model Organisms"],"prefix":"10.1093","volume":"198","author":[{"given":"Philip","family":"Hieter","sequence":"first","affiliation":[{"name":"Michael Smith Laboratories, University of British Columbia, 2185 East Mall, Vancouver, BC, Canada V6T 1Z4"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kym M","family":"Boycott","sequence":"additional","affiliation":[{"name":"Children\u2019s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada K1H 8L1"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2014,10,1]]},"reference":[{"key":"2022011301110898000_bib1","author":"Altshuler","year":"2012"},{"issue":"5","key":"2022011301110898000_bib2","first-page":"677","article-title":"Genetic disorders in children and young adults: a population study.","volume":"42","author":"Baird","year":"1988","journal-title":"Am. 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