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Genome-wide meta-analysis identifies BARX1 and EML4-MTA3 as new loci associated with infantile hypertrophic pyloric stenosis.
Fadista J, Skotte L, Geller F, Bybjerg-Grauholm J, Gørtz S, Romitti PA, Caggana M, Kay DM, Matsson H, Boyd HA, Hougaard DM, Nordenskjöld A, Mills JL, Melbye M, Feenstra B. Fadista J, et al. Among authors: romitti pa. Hum Mol Genet. 2019 Jan 15;28(2):332-340. doi: 10.1093/hmg/ddy347. Hum Mol Genet. 2019. PMID: 30281099 Free PMC article.
Folate and vitamin B12-related genes and risk for omphalocele.
Mills JL, Carter TC, Kay DM, Browne ML, Brody LC, Liu A, Romitti PA, Caggana M, Druschel CM. Mills JL, et al. Among authors: romitti pa. Hum Genet. 2012 May;131(5):739-46. doi: 10.1007/s00439-011-1117-3. Epub 2011 Nov 25. Hum Genet. 2012. PMID: 22116453 Free PMC article.
Anorectal atresia and variants at predicted regulatory sites in candidate genes.
Carter TC, Kay DM, Browne ML, Liu A, Romitti PA, Kuehn D, Conley MR, Caggana M, Druschel CM, Brody LC, Mills JL. Carter TC, et al. Among authors: romitti pa. Ann Hum Genet. 2013 Jan;77(1):31-46. doi: 10.1111/j.1469-1809.2012.00734.x. Epub 2012 Nov 6. Ann Hum Genet. 2013. PMID: 23127126 Free PMC article.
A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9.
Justice CM, Yagnik G, Kim Y, Peter I, Jabs EW, Erazo M, Ye X, Ainehsazan E, Shi L, Cunningham ML, Kimonis V, Roscioli T, Wall SA, Wilkie AO, Stoler J, Richtsmeier JT, Heuzé Y, Sanchez-Lara PA, Buckley MF, Druschel CM, Mills JL, Caggana M, Romitti PA, Kay DM, Senders C, Taub PJ, Klein OD, Boggan J, Zwienenberg-Lee M, Naydenov C, Kim J, Wilson AF, Boyadjiev SA. Justice CM, et al. Among authors: romitti pa. Nat Genet. 2012 Dec;44(12):1360-4. doi: 10.1038/ng.2463. Epub 2012 Nov 18. Nat Genet. 2012. PMID: 23160099 Free PMC article.
Rare copy number variants implicated in posterior urethral valves.
Boghossian NS, Sicko RJ, Kay DM, Rigler SL, Caggana M, Tsai MY, Yeung EH, Pankratz N, Cole BR, Druschel CM, Romitti PA, Browne ML, Fan R, Liu A, Brody LC, Mills JL. Boghossian NS, et al. Among authors: romitti pa. Am J Med Genet A. 2016 Mar;170(3):622-33. doi: 10.1002/ajmg.a.37493. Epub 2015 Dec 14. Am J Med Genet A. 2016. PMID: 26663319 Free PMC article.
260 results