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Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome.
van Bon BW, Mefford HC, Menten B, Koolen DA, Sharp AJ, Nillesen WM, Innis JW, de Ravel TJ, Mercer CL, Fichera M, Stewart H, Connell LE, Ounap K, Lachlan K, Castle B, Van der Aa N, van Ravenswaaij C, Nobrega MA, Serra-Juhé C, Simonic I, de Leeuw N, Pfundt R, Bongers EM, Baker C, Finnemore P, Huang S, Maloney VK, Crolla JA, van Kalmthout M, Elia M, Vandeweyer G, Fryns JP, Janssens S, Foulds N, Reitano S, Smith K, Parkel S, Loeys B, Woods CG, Oostra A, Speleman F, Pereira AC, Kurg A, Willatt L, Knight SJ, Vermeesch JR, Romano C, Barber JC, Mortier G, Pérez-Jurado LA, Kooy F, Brunner HG, Eichler EE, Kleefstra T, de Vries BB. van Bon BW, et al. Among authors: nobrega ma. J Med Genet. 2009 Aug;46(8):511-23. doi: 10.1136/jmg.2008.063412. Epub 2009 Apr 15. J Med Genet. 2009. PMID: 19372089 Free PMC article.
A fine-scale chimpanzee genetic map from population sequencing.
Auton A, Fledel-Alon A, Pfeifer S, Venn O, Ségurel L, Street T, Leffler EM, Bowden R, Aneas I, Broxholme J, Humburg P, Iqbal Z, Lunter G, Maller J, Hernandez RD, Melton C, Venkat A, Nobrega MA, Bontrop R, Myers S, Donnelly P, Przeworski M, McVean G. Auton A, et al. Among authors: nobrega ma. Science. 2012 Apr 13;336(6078):193-8. doi: 10.1126/science.1216872. Epub 2012 Mar 15. Science. 2012. PMID: 22422862 Free PMC article.
TBX5 drives Scn5a expression to regulate cardiac conduction system function.
Arnolds DE, Liu F, Fahrenbach JP, Kim GH, Schillinger KJ, Smemo S, McNally EM, Nobrega MA, Patel VV, Moskowitz IP. Arnolds DE, et al. Among authors: nobrega ma. J Clin Invest. 2012 Jul;122(7):2509-18. doi: 10.1172/JCI62617. Epub 2012 Jun 25. J Clin Invest. 2012. PMID: 22728936 Free PMC article.
Transcriptional Patterning of the Ventricular Cardiac Conduction System.
Burnicka-Turek O, Broman MT, Steimle JD, Boukens BJ, Petrenko NB, Ikegami K, Nadadur RD, Qiao Y, Arnolds DE, Yang XH, Patel VV, Nobrega MA, Efimov IR, Moskowitz IP. Burnicka-Turek O, et al. Among authors: nobrega ma. Circ Res. 2020 Jul 17;127(3):e94-e106. doi: 10.1161/CIRCRESAHA.118.314460. Epub 2020 Apr 15. Circ Res. 2020. PMID: 32290757 Free PMC article.
The emerging genetic landscape underlying cardiac conduction system function.
Arnolds DE, Chu A, McNally EM, Nobrega MA, Moskowitz IP. Arnolds DE, et al. Among authors: nobrega ma. Birth Defects Res A Clin Mol Teratol. 2011 Jun;91(6):578-85. doi: 10.1002/bdra.20800. Epub 2011 Apr 28. Birth Defects Res A Clin Mol Teratol. 2011. PMID: 21538814 Free PMC article. Review.
A promoter interaction map for cardiovascular disease genetics.
Montefiori LE, Sobreira DR, Sakabe NJ, Aneas I, Joslin AC, Hansen GT, Bozek G, Moskowitz IP, McNally EM, Nóbrega MA. Montefiori LE, et al. Among authors: nobrega ma. Elife. 2018 Jul 10;7:e35788. doi: 10.7554/eLife.35788. Elife. 2018. PMID: 29988018 Free PMC article.
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