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Page 1
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.
Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield.
Gubbels CS, VanNoy GE, Madden JA, Copenheaver D, Yang S, Wojcik MH, Gold NB, Genetti CA, Stoler J, Parad RB, Roumiantsev S, Bodamer O, Beggs AH, Juusola J, Agrawal PB, Yu TW. Gubbels CS, et al. Among authors: copenheaver d. 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.
Implementation of First-Tier Rapid Genome Sequencing in Non-Critical Care Pediatric Wards.
Keefe AC, Scott AA, Kruidenier L, Conta J, Sternen D, Clowes-Candadai S, Stasi SM, Parish-Morris J, Sikes M, Adam MP, Beck AE, Hayek JC, Glass I, Bennett JT, Mirzaa G, Kruszka P, McWalter K, Copenheaver D, Friedman B, Bamshad M, Dipple KM, Wenger TL. Keefe AC, et al. Among authors: copenheaver d. J Pediatr. 2025 Jun 23:114699. doi: 10.1016/j.jpeds.2025.114699. Online ahead of print. J Pediatr. 2025. PMID: 40562302
SeqFirst: Building equity access to a precise genetic diagnosis in critically ill newborns.
Wenger TL, Scott A, Kruidenier L, Sikes M, Keefe A, Buckingham KJ, Marvin CT, Shively KM, Bacus T, Sommerland OM, Anderson K, Gildersleeve H, Davis CJ, Love-Nichols J, MacDuffie KE, Miller DE, Yu JH, Snook A, Johnson B, Veenstra DL, Parish-Morris J, McWalter K, Retterer K, Copenheaver D, Friedman B, Juusola J, Ryan E, Varga R, Doherty DA, Dipple K, Chong JX, Kruszka P, Bamshad MJ. Wenger TL, et al. Among authors: copenheaver d. Am J Hum Genet. 2025 Mar 6;112(3):508-522. doi: 10.1016/j.ajhg.2025.02.003. Epub 2025 Feb 24. Am J Hum Genet. 2025. PMID: 39999847 Free PMC article.