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An exon 1 deletion in OTC identified using chromosomal microarray analysis in a mother and her two affected deceased newborns: implications for the prenatal diagnosis of ornithine transcarbamylase deficiency.
Quintero-Rivera F, Deignan JL, Peredo J, Grody WW, Crandall B, Sims M, Cederbaum SD. Quintero-Rivera F, et al. Among authors: grody ww. Mol Genet Metab. 2010 Dec;101(4):413-6. doi: 10.1016/j.ymgme.2010.08.008. Epub 2010 Aug 14. Mol Genet Metab. 2010. PMID: 20817516
Molecular Diagnosis of Cystic Fibrosis.
Deignan JL, Grody WW. Deignan JL, et al. Among authors: grody ww. Curr Protoc Hum Genet. 2016 Jan 1;88:9.28.1-9.28.6. doi: 10.1002/0471142905.hg0928s88. Curr Protoc Hum Genet. 2016. PMID: 26724724
Ornithine deficiency in the arginase double knockout mouse.
Deignan JL, Livesay JC, Yoo PK, Goodman SI, O'Brien WE, Iyer RK, Cederbaum SD, Grody WW. Deignan JL, et al. Among authors: grody ww. Mol Genet Metab. 2006 Sep-Oct;89(1-2):87-96. doi: 10.1016/j.ymgme.2006.04.007. Epub 2006 Jun 5. Mol Genet Metab. 2006. PMID: 16753325
Polyamine homeostasis in arginase knockout mice.
Deignan JL, Livesay JC, Shantz LM, Pegg AE, O'Brien WE, Iyer RK, Cederbaum SD, Grody WW. Deignan JL, et al. Among authors: grody ww. Am J Physiol Cell Physiol. 2007 Oct;293(4):C1296-301. doi: 10.1152/ajpcell.00393.2006. Epub 2007 Aug 8. Am J Physiol Cell Physiol. 2007. PMID: 17686999 Free article.
Clinical exome sequencing for genetic identification of rare Mendelian disorders.
Lee H, Deignan JL, Dorrani N, Strom SP, Kantarci S, Quintero-Rivera F, Das K, Toy T, Harry B, Yourshaw M, Fox M, Fogel BL, Martinez-Agosto JA, Wong DA, Chang VY, Shieh PB, Palmer CG, Dipple KM, Grody WW, Vilain E, Nelson SF. Lee H, et al. Among authors: grody ww. JAMA. 2014 Nov 12;312(18):1880-7. doi: 10.1001/jama.2014.14604. JAMA. 2014. PMID: 25326637 Free PMC article.
253 results