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Exome sequencing of child-parent trios with bladder exstrophy: Findings in 26 children.
Pitsava G, Feldkamp ML, Pankratz N, Lane J, Kay DM, Conway KM, Shaw GM, Reefhuis J, Jenkins MM, Almli LM, Olshan AF, Pangilinan F, Brody LC, Sicko RJ, Hobbs CA, Bamshad M, McGoldrick D, Nickerson DA, Finnell RH, Mullikin J, Romitti PA, Mills JL; University of Washington Center for Mendelian Genomics, NISC Comparative Sequencing Program and the National Birth Defects Prevention Study. Pitsava G, et al. Among authors: brody lc. Am J Med Genet A. 2021 Oct;185(10):3028-3041. doi: 10.1002/ajmg.a.62439. Epub 2021 Aug 5. Am J Med Genet A. 2021. PMID: 34355505 Free PMC article.
A polymorphism, R653Q, in the trifunctional enzyme methylenetetrahydrofolate dehydrogenase/methenyltetrahydrofolate cyclohydrolase/formyltetrahydrofolate synthetase is a maternal genetic risk factor for neural tube defects: report of the Birth Defects Research Group.
Brody LC, Conley M, Cox C, Kirke PN, McKeever MP, Mills JL, Molloy AM, O'Leary VB, Parle-McDermott A, Scott JM, Swanson DA. Brody LC, et al. Am J Hum Genet. 2002 Nov;71(5):1207-15. doi: 10.1086/344213. Epub 2002 Oct 16. Am J Hum Genet. 2002. PMID: 12384833 Free PMC article.
Evaluation of transcobalamin II polymorphisms as neural tube defect risk factors in an Irish population.
Swanson DA, Pangilinan F, Mills JL, Kirke PN, Conley M, Weiler A, Frey T, Parle-McDermott A, O'Leary VB, Seltzer RR, Moynihan KA, Molloy AM, Burke H, Scott JM, Brody LC. Swanson DA, et al. Among authors: brody lc. Birth Defects Res A Clin Mol Teratol. 2005 Apr;73(4):239-44. doi: 10.1002/bdra.20122. Birth Defects Res A Clin Mol Teratol. 2005. PMID: 15782407
Folate-related genes and omphalocele.
Mills JL, Druschel CM, Pangilinan F, Pass K, Cox C, Seltzer RR, Conley MR, Brody LC. Mills JL, et al. Among authors: brody lc. Am J Med Genet A. 2005 Jul 1;136(1):8-11. doi: 10.1002/ajmg.a.30772. Am J Med Genet A. 2005. PMID: 15937947
Screening for new MTHFR polymorphisms and NTD risk.
O'Leary VB, Mills JL, Parle-McDermott A, Pangilinan F, Molloy AM, Cox C, Weiler A, Conley M, Kirke PN, Scott JM, Brody LC; Birth Defects Research Group. O'Leary VB, et al. Among authors: brody lc. Am J Med Genet A. 2005 Oct 1;138A(2):99-106. doi: 10.1002/ajmg.a.30846. Am J Med Genet A. 2005. PMID: 16145688
202 results