{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,5]],"date-time":"2026-11-05T08:33:19Z","timestamp":1793867599647,"version":"4.6.1"},"reference-count":10,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2016,4,25]],"date-time":"2016-04-25T00:00:00Z","timestamp":1461542400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100010803","name":"Department of Biotechnology","doi-asserted-by":"crossref","award":["BT\/PR3193\/MED\/12\/521\/2011"],"award-info":[{"award-number":["BT\/PR3193\/MED\/12\/521\/2011"]}],"id":[{"id":"10.13039\/501100010803","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2016,7]]},"abstract":"<jats:sec><jats:label\/><jats:p>We report on a sib pair of Indian origin presenting with intellectual disability, dysmorphism, and macrocephaly. Exome sequencing revealed a homozygous splice site <jats:italic>HERC1<\/jats:italic> mutation in both probands. Functional analysis revealed use of an alternate splice site resulting in formation of a downstream stop codon and nonsense mediated decay. In the light of recent reports of <jats:italic>HERC1<\/jats:italic> mutations in two families with a similar phenotypic presentation, this report reiterates the pathogenic nature and clinical consequences of <jats:italic>HERC1<\/jats:italic> disruption. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37654","type":"journal-article","created":{"date-parts":[[2016,4,25]],"date-time":"2016-04-25T05:18:47Z","timestamp":1461561527000},"page":"1868-1873","source":"Crossref","is-referenced-by-count":33,"title":["A splice site mutation in <i>HERC1<\/i> leads to syndromic intellectual disability with macrocephaly and facial dysmorphism: Further delineation of the phenotypic spectrum"],"prefix":"10.1002","volume":"170","author":[{"given":"Shagun","family":"Aggarwal","sequence":"first","affiliation":[{"name":"Department of Medical Genetics Nizam's Institute of Medical Sciences Hyderabad India"},{"name":"Division of Diagnostics Centre for DNA Fingerprinting and Diagnostics Hyderabad India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aneek Das","family":"Bhowmik","sequence":"additional","affiliation":[{"name":"Division of Diagnostics Centre for DNA Fingerprinting and Diagnostics Hyderabad India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vedam L.","family":"Ramprasad","sequence":"additional","affiliation":[{"name":"MedGenome Labs Bangalore India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sakthivel","family":"Murugan","sequence":"additional","affiliation":[{"name":"MedGenome Labs Bangalore India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ashwin","family":"Dalal","sequence":"additional","affiliation":[{"name":"Division of Diagnostics Centre for DNA Fingerprinting and Diagnostics Hyderabad India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2016,4,25]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00018-015-1878-2"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.C500451200"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/16.22.10881"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00018-005-5119-y"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1000784"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31401"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2015.140"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12634"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22237"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jdermsci.2015.04.005"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.37654","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.37654","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,5]],"date-time":"2023-10-05T23:19:41Z","timestamp":1696547981000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.37654"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,4,25]]},"references-count":10,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2016,7]]}},"alternative-id":["10.1002\/ajmg.a.37654"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.37654","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,4,25]]}}}