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Page 1
Exome sequencing identifies variants in infants with sacral agenesis.
Pitsava G, Feldkamp ML, Pankratz N, Lane J, Kay DM, Conway KM, Hobbs C, Shaw GM, Reefhuis J, Jenkins MM, Almli LM, Moore C, Werler M, Browne ML, Cunniff C, Olshan AF, Pangilinan F, Brody LC, Sicko RJ, Finnell RH, Bamshad MJ, McGoldrick D, Nickerson DA, Mullikin JC, Romitti PA, Mills JL; UW Center for Mendelian Genomics, NISC Comparative Sequencing Program and the National Birth Defects Prevention Study. Pitsava G, et al. Among authors: cunniff c. Birth Defects Res. 2022 Apr;114(7):215-227. doi: 10.1002/bdr2.1987. Epub 2022 Mar 10. Birth Defects Res. 2022. PMID: 35274497 Free PMC article.
Aicardi syndrome: more than meets the eye.
Carney SH, Brodsky MC, Good WV, Glasier CM, Greibel ML, Cunniff C. Carney SH, et al. Among authors: cunniff c. Surv Ophthalmol. 1993 May-Jun;37(6):419-24. doi: 10.1016/0039-6257(93)90139-x. Surv Ophthalmol. 1993. PMID: 8516753
The muscular Dystrophy Surveillance Tracking and Research Network (MD STARnet): surveillance methodology.
Miller LA, Romitti PA, Cunniff C, Druschel C, Mathews KD, Meaney FJ, Matthews D, Kantamneni J, Feng ZF, Zemblidge N, Miller TM, Andrews J, Fox D, Ciafaloni E, Pandya S, Montgomery A, Kenneson A. Miller LA, et al. Among authors: cunniff c. Birth Defects Res A Clin Mol Teratol. 2006 Nov;76(11):793-7. doi: 10.1002/bdra.20279. Birth Defects Res A Clin Mol Teratol. 2006. PMID: 17036307 Free PMC article.
A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome.
Rieder MJ, Green GE, Park SS, Stamper BD, Gordon CT, Johnson JM, Cunniff CM, Smith JD, Emery SB, Lyonnet S, Amiel J, Holder M, Heggie AA, Bamshad MJ, Nickerson DA, Cox TC, Hing AV, Horst JA, Cunningham ML. Rieder MJ, et al. Among authors: cunniff cm. Am J Hum Genet. 2012 May 4;90(5):907-14. doi: 10.1016/j.ajhg.2012.04.002. Am J Hum Genet. 2012. PMID: 22560091 Free PMC article.
Prevalence of Duchenne and Becker muscular dystrophies in the United States.
Romitti PA, Zhu Y, Puzhankara S, James KA, Nabukera SK, Zamba GK, Ciafaloni E, Cunniff C, Druschel CM, Mathews KD, Matthews DJ, Meaney FJ, Andrews JG, Conway KM, Fox DJ, Street N, Adams MM, Bolen J; MD STARnet. Romitti PA, et al. Among authors: cunniff c. Pediatrics. 2015 Mar;135(3):513-21. doi: 10.1542/peds.2014-2044. Epub 2015 Feb 16. Pediatrics. 2015. PMID: 25687144 Free PMC article.
Fluconazole use and birth defects in the National Birth Defects Prevention Study.
Howley MM, Carter TC, Browne ML, Romitti PA, Cunniff CM, Druschel CM; National Birth Defects Prevention Study. Howley MM, et al. Among authors: cunniff cm. Am J Obstet Gynecol. 2016 May;214(5):657.e1-9. doi: 10.1016/j.ajog.2015.11.022. Epub 2015 Nov 30. Am J Obstet Gynecol. 2016. PMID: 26640069 Free PMC article.
Muscular Dystrophy Surveillance, Tracking, and Research Network pilot: Population-based surveillance of major muscular dystrophies at four U.S. sites, 2007-2011.
Do TN, Street N, Donnelly J, Adams MM, Cunniff C, Fox DJ, Weinert RO, Oleszek J, Romitti PA, Westfield CP, Bolen J; Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet). Do TN, et al. Among authors: cunniff c. Birth Defects Res. 2018 Nov 15;110(19):1404-1411. doi: 10.1002/bdr2.1371. Epub 2018 Aug 2. Birth Defects Res. 2018. PMID: 30070776 Free PMC article.
132 results