Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands
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Published:2017-10-09
Issue:11
Volume:49
Page:1593-1601
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ISSN:1061-4036
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Container-title:Nature Genetics
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language:en
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Short-container-title:Nat Genet
Author:
Jin Sheng Chih, Homsy Jason, Zaidi Samir, Lu QiongshiORCID, Morton Sarah, DePalma Steven RORCID, Zeng Xue, Qi Hongjian, Chang Weni, Sierant Michael C, Hung Wei-Chien, Haider ShozebORCID, Zhang Junhui, Knight JamesORCID, Bjornson Robert D, Castaldi Christopher, Tikhonoa Irina R, Bilguvar Kaya, Mane Shrikant M, Sanders Stephan J, Mital SeemaORCID, Russell Mark W, Gaynor J William, Deanfield John, Giardini Alessandro, Porter George AORCID, Srivastava Deepak, Lo Cecelia WORCID, Shen Yufeng, Watkins W Scott, Yandell Mark, Yost H Joseph, Tristani-Firouzi Martin, Newburger Jane W, Roberts Amy E, Kim Richard, Zhao Hongyu, Kaltman Jonathan R, Goldmuntz Elizabeth, Chung Wendy K, Seidman Jonathan G, Gelb Bruce DORCID, Seidman Christine EORCID, Lifton Richard P, Brueckner MartinaORCID
Publisher
Springer Science and Business Media LLC
Reference62 articles.
1. van der Linde, D. et al. Birth prevalence of congenital heart disease worldwide: a systematic review and meta-analysis. J. Am. Coll. Cardiol. 58, 2241–2247 (2011). 2. Egbe, A., Lee, S., Ho, D., Uppu, S. & Srivastava, S. Prevalence of congenital anomalies in newborns with congenital heart disease diagnosis. Ann. Pediatr. Cardiol. 7, 86–91 (2014). 3. Marino, B.S. et al. Neurodevelopmental outcomes in children with congenital heart disease: evaluation and management: a scientific statement from the American Heart Association. Circulation 126, 1143–1172 (2012). 4. Soemedi, R. et al. Contribution of global rare copy-number variants to the risk of sporadic congenital heart disease. Am. J. Hum. Genet. 91, 489–501 (2012). 5. Glessner, J.T. et al. Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data. Circ. Res. 115, 884–896 (2014).
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