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Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield.
Genet Med. 2020 Apr;22(4):736-744. doi: 10.1038/s41436-019-0708-6. Epub 2019 Nov 29.
Genet Med. 2020.
PMID: 31780822
Free PMC article.
Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development.
Yates CL, Monaghan KG, Copenheaver D, Retterer K, Scuffins J, Kucera CR, Friedman B, Richard G, Juusola J.
Yates CL, et al. Among authors: copenheaver d.
Genet Med. 2017 Oct;19(10):1171-1178. doi: 10.1038/gim.2017.31. Epub 2017 Apr 20.
Genet Med. 2017.
PMID: 28425981
Free article.
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Clinical utility of exome sequencing in infantile heart failure.
Ritter A, Bedoukian E, Berger JH, Copenheaver D, Gray C, Krantz I, Izumi K, Juusola J, Leonard J, Lin K, Medne L, Santani A, Skraban C, Yang S, Ahrens-Nicklas RC.
Ritter A, et al. Among authors: copenheaver d.
Genet Med. 2020 Feb;22(2):423-426. doi: 10.1038/s41436-019-0654-3. Epub 2019 Sep 17.
Genet Med. 2020.
PMID: 31527676
Free PMC article.
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Bohring-Opitz syndrome caused by an ASXL1 mutation inherited from a germline mosaic mother.
Bedoukian E, Copenheaver D, Bale S, Deardorff M.
Bedoukian E, et al. Among authors: copenheaver d.
Am J Med Genet A. 2018 May;176(5):1249-1252. doi: 10.1002/ajmg.a.38686.
Am J Med Genet A. 2018.
PMID: 29681100
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