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Here,\n                    <jats:italic>FAM172A<\/jats:italic>\n                    is reported as a new candidate gene for CHARGE syndrome. This discovery has allowed us to reveal a molecular process that is dysregulated in both\n                    <jats:italic>CHD7<\/jats:italic>\n                    mutation-positive and -negative cases, such defect being correctable in vitro with rapamycin.\n                  <\/jats:p>","DOI":"10.1073\/pnas.1715378115","type":"journal-article","created":{"date-parts":[[2018,1,8]],"date-time":"2018-01-08T15:39:02Z","timestamp":1515425942000},"update-policy":"https:\/\/doi.org\/10.1073\/pnas.cm10313","source":"Crossref","is-referenced-by-count":42,"title":["Dysregulation of cotranscriptional alternative splicing underlies CHARGE syndrome"],"prefix":"10.1073","volume":"115","author":[{"given":"Catherine","family":"B\u00e9langer","sequence":"first","affiliation":[{"name":"Molecular Genetics of Development Laboratory, Department of Biological Sciences, University of Quebec at Montreal, Montreal, QC H2X 3Y7, Canada;"},{"name":"BioMed Research Center, University of Quebec at Montreal, 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