{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T05:32:01Z","timestamp":1791869521518,"version":"4.3.4"},"reference-count":83,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2019,12,13]],"date-time":"2019-12-13T00:00:00Z","timestamp":1576195200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R01\u2010014456"],"award-info":[{"award-number":["R01\u2010014456"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt C"],"published-print":{"date-parts":[[2020,3]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    CHARGE syndrome is characterized by a pattern of congenital anomalies (Coloboma of the eye, Heart defects, Atresia of the choanae, Retardation of growth, Genital abnormalities, and Ear abnormalities). De novo mutations of chromodomain helicase DNA binding protein 7 (\n                    <jats:italic>CHD7<\/jats:italic>\n                    ) are the primary cause of CHARGE syndrome. The clinical phenotype is highly variable including a wide spectrum of congenital heart defects. Here, we review the range of congenital heart defects and the molecular effects of CHD7 on cardiovascular development that lead to an over\u2010representation of atrioventricular septal, conotruncal, and aortic arch defects in CHARGE syndrome. Further, we review the overlap of cardiovascular and noncardiovascular comorbidities present in CHARGE and their impact on the peri\u2010operative morbidity and mortality in individuals with CHARGE syndrome.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.c.31761","type":"journal-article","created":{"date-parts":[[2019,12,13]],"date-time":"2019-12-13T04:30:24Z","timestamp":1576211424000},"page":"81-89","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":38,"title":["Congenital heart defects in CHARGE: The molecular role of CHD7 and effects on cardiac phenotype and clinical outcomes"],"prefix":"10.1002","volume":"184","author":[{"given":"Joshua K.","family":"Meisner","sequence":"first","affiliation":[{"name":"Department of Pediatrics University of Michigan  Ann Arbor Michigan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8070-2007","authenticated-orcid":false,"given":"Donna M.","family":"Martin","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Michigan  Ann Arbor Michigan"},{"name":"Department of Human Genetics University of Michigan  Ann Arbor Michigan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,12,13]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1053\/j.semtcvs.2015.10.016"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.athoracsur.2017.04.019"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2005.10.044"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddw198"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature08733"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1715378115"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2009.01334.x"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2010.087106"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1080\/21541264.2018.1521213"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijporl.2008.10.005"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.65.2.217"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1177\/000992289803700302"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/bdra.20403"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/stem.2969"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4825"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2017.04.004"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1401923111"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.2008.01077.x"},{"issue":"5","key":"e_1_2_6_20_1","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1159\/000351127","article-title":"More clinical overlap between 22q11.2 deletion syndrome and CHARGE syndrome than often anticipated","volume":"4","author":"Corsten\u2010Janssen N.","year":"2013","journal-title":"Molecular Syndromology"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36747"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCGENETICS.113.000054"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31590"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijcha.2016.05.015"},{"key":"e_1_2_6_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(87)80555-3"},{"key":"e_1_2_6_26_1","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCRESAHA.112.300853"},{"key":"e_1_2_6_27_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejcts.2008.11.005"},{"key":"e_1_2_6_28_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2249.2008.03681.x"},{"key":"e_1_2_6_29_1","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCULATIONAHA.110.947002"},{"key":"e_1_2_6_30_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37435"},{"key":"e_1_2_6_31_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(79)80513-2"},{"issue":"2","key":"e_1_2_6_32_1","doi-asserted-by":"crossref","first-page":"122","DOI":"10.3928\/0191-3913-19790301-10","article-title":"Colobomatous microphthalmia, heart disease, hearing loss, and mental retardation\u2014A syndrome","volume":"16","author":"Hittner H. 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