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Page 1
High-frequency detection of deletions and variable rearrangements at the ornithine transcarbamylase (OTC) locus by oligonucleotide array CGH.
Shchelochkov OA, Li FY, Geraghty MT, Gallagher RC, Van Hove JL, Lichter-Konecki U, Fernhoff PM, Copeland S, Reimschisel T, Cederbaum S, Lee B, Chinault AC, Wong LJ. Shchelochkov OA, et al. Among authors: copeland s. Mol Genet Metab. 2009 Mar;96(3):97-105. doi: 10.1016/j.ymgme.2008.11.167. Epub 2009 Jan 12. Mol Genet Metab. 2009. PMID: 19138872
Characterization of new ACADSB gene sequence mutations and clinical implications in patients with 2-methylbutyrylglycinuria identified by newborn screening.
Alfardan J, Mohsen AW, Copeland S, Ellison J, Keppen-Davis L, Rohrbach M, Powell BR, Gillis J, Matern D, Kant J, Vockley J. Alfardan J, et al. Among authors: copeland s. Mol Genet Metab. 2010 Aug;100(4):333-8. doi: 10.1016/j.ymgme.2010.04.014. Epub 2010 May 23. Mol Genet Metab. 2010. PMID: 20547083 Free PMC article.
Case Definitions for Conditions Identified by Newborn Screening Public Health Surveillance.
Sontag MK, Sarkar D, Comeau AM, Hassell K, Botto LD, Parad R, Rose SR, Wintergerst KA, Smith-Whitley K, Singh S, Yusuf C, Ojodu J, Copeland S, Hinton CF. Sontag MK, et al. Among authors: copeland s. Int J Neonatal Screen. 2018;4(2):16. doi: 10.3390/ijns4020016. Epub 2018 May 9. Int J Neonatal Screen. 2018. PMID: 29862374 Free PMC article.
Feeding and swallowing dysfunction in genetic syndromes.
Cooper-Brown L, Copeland S, Dailey S, Downey D, Petersen MC, Stimson C, Van Dyke DC. Cooper-Brown L, et al. Among authors: copeland s. Dev Disabil Res Rev. 2008;14(2):147-57. doi: 10.1002/ddrr.19. Dev Disabil Res Rev. 2008. PMID: 18646013 Review.
Standardizing newborn screening results for health information exchange.
Abhyankar S, Lloyd-Puryear MA, Goodwin R, Copeland S, Eichwald J, Therrell BL, Zuckerman A, Downing G, McDonald CJ. Abhyankar S, et al. Among authors: copeland s. AMIA Annu Symp Proc. 2010 Nov 13;2010:1-5. AMIA Annu Symp Proc. 2010. PMID: 21346929 Free PMC article.
218 results