Chromosome microarray testing for patients with congenital heart defects reveals novel disease causing loci and high diagnostic yield

Author:

Geng Juan,Picker Jonathan,Zheng Zhaojing,Zhang Xiaoqing,Wang Jian,Hisama Fuki,Brown David W,Mullen Mary P,Harris David,Stoler Joan,Seman Ann,Miller David T,Fu Qihua,Roberts Amy E,Shen Yiping

Publisher

Springer Science and Business Media LLC

Subject

Genetics,Biotechnology

Reference40 articles.

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2. Riggs ER, Jackson L, Miller DT, Van Vooren S: Phenotypic information in genomic variant databases enhances clinical care and research: The international standards for cytogenomic arrays consortium experience. Hum Mutat. 2012, 33 (5): 787-796. 10.1002/humu.22052.

3. Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, Faucett WA, Feuk L, Friedman JM, Hamosh A, Jackson L, Kaminsky EB, Kok K, Krantz ID, Kuhn RM, Lee C, Ostell JM, Rosenberg C, Scherer SW, Spinner NB, Stavropoulos DJ, Tepperberg JH, Thorland EC, Vermeesch JR, Waggoner DJ, Watson MS, et al: Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet. 2010, 86 (5): 749-764. 10.1016/j.ajhg.2010.04.006.

4. Manning M, Hudgins L: Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities. Gen Med. 2010, 12 (11): 742-745. 10.1097/GIM.0b013e3181f8baad.

5. van der Linde D, Konings EEM, Slager MA, Witsenburg M, Helbing WA, Takkenberg JJM, Roos-Hesselink JW: Birth prevalence of congenital heart disease worldwide. J Am Coll Cardiol. 2011, 58 (21): 2241-2247. 10.1016/j.jacc.2011.08.025.

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