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We report a 7-wk-old infant who was admitted with neonatal cholestasis, and who was diagnosed with a novel homozygous stop-gain variant in <jats:italic>NPC1<\/jats:italic> by rapid whole-genome sequencing (WGS). WGS results were obtained 16 d before return of the standard clinical genetic test results and prompted initiation of targeted therapy.<\/jats:p>","DOI":"10.1101\/mcs.a001966","type":"journal-article","created":{"date-parts":[[2017,6,27]],"date-time":"2017-06-27T16:30:58Z","timestamp":1498581058000},"page":"a001966","source":"Crossref","is-referenced-by-count":18,"title":["Rapid whole-genome sequencing identifies a novel homozygous <i>NPC1<\/i> variant associated with Niemann\u2013Pick type C1 disease in a 7-week-old male with cholestasis"],"prefix":"10.1101","volume":"3","author":[{"given":"Amber","family":"Hildreth","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristen","family":"Wigby","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shimul","family":"Chowdhury","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shareef","family":"Nahas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jaime","family":"Barea","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paulina","family":"Ordonez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sergey","family":"Batalov","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Dimmock","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephen","family":"Kingsmore","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"on behalf of the RCIGM Investigators","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"246","published-online":{"date-parts":[[2017,5,26]]},"reference":[{"key":"2021112506125799000_3.5.a001966.1","doi-asserted-by":"publisher","DOI":"10.1126\/science.277.5323.228"},{"key":"2021112506125799000_3.5.a001966.2","doi-asserted-by":"crossref","first-page":"529","DOI":"10.1586\/14737159.2013.811907","article-title":"Clinical analysis of genome next-generation sequencing data using the Omicia platform","volume":"13","year":"2013","journal-title":"Expert Rev Mol Diagn"},{"key":"2021112506125799000_3.5.a001966.3","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1186\/s13256-016-0925-4","article-title":"Visceral symptoms as a key diagnostic sign for the early infantile form of Niemann\u2013Pick disease type C in a Russian patient: a case report","volume":"10","year":"2016","journal-title":"J Med Case Rep"},{"key":"2021112506125799000_3.5.a001966.4","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1016\/j.pediatrneurol.2012.04.005","article-title":"Early miglustat therapy in infantile Niemann\u2013Pick disease type C","volume":"47","year":"2012","journal-title":"Pediatr Neurol"},{"key":"2021112506125799000_3.5.a001966.5","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2005.00490.x"},{"key":"2021112506125799000_3.5.a001966.6","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-7-36"},{"key":"2021112506125799000_3.5.a001966.7","unstructured":"http:\/\/evs.gs.washington.edu\/EVS\/. 2016. 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