• 262 Citations
  • 8 h-Index
20082018

Research output per year

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Publications

  • 262 Citations
  • 8 h-Index
  • 12 Article
2018

Dysregulation of TBX1 dosage in the anterior heart field results in congenital heart disease resembling the 22q11.2 duplication syndrome

Hasten, E., McDonald-McGinn, D. M., Crowley, T. B., Zackai, E., Emanuel, B. S., Morrow, B. E. & Racedo, S. E., Jun 1 2018, In : Human molecular genetics. 27, 11, p. 1847-1857 11 p.

Research output: Contribution to journalArticle

4 Scopus citations
2017

Genetic drivers of kidney defects in the digeorge syndrome

Lopez-Rivera, E., Liu, Y. P., Verbitsky, M., Anderson, B. R., Capone, V. P., Otto, E. A., Yan, Z., Mitrotti, A., Martino, J., Steers, N. J., Fasel, D. A., Vukojevic, K., Deng, R., Racedo, S. E., Liu, Q., Werth, M., Westland, R., Vivante, A., Makar, G. S., Bodria, M. & 62 others, Sampson, M. G., Gillies, C. E., Vega-Warner, V., Maiorana, M., Petrey, D. S., Honig, B., Lozanovski, V. J., Salomon, R., Heidet, L., Carpentier, W., Gaillard, D., Carrea, A., Gesualdo, L., Cusi, D., Izzi, C., Scolari, F., Van Wijk, J. A. E., Arapovic, A., Saraga-Babic, M., Saraga, M., Kunac, N., Samii, A., McDonald-McGinn, D. M., Crowley, T. B., Zackai, E. H., Drozdz, D., Miklaszewska, M., Tkaczyk, M., Sikora, P., Szczepanska, M., Mizerska-Wasiak, M., Krzemien, G., Szmigielska, A., Zaniew, M., Darlow, J. M., Puri, P., Barton, D., Casolari, E., Furth, S. L., Warady, B. A., Gucev, Z., Hakonarson, H., Flogelova, H., Tasic, V., Latos-Bielenska, A., Materna-Kiryluk, A., Allegri, L., Wong, C. S., Drummond, I. A., D'Agati, V., Imamoto, A., Barasch, J. M., Hildebrandt, F., Kiryluk, K., Lifton, R. P., Morrow, B. E., Jeanpierre, C., Papaioannou, V. E., Ghiggeri, G. M., Gharavi, A. G., Katsanis, N. & Sanna-Cherchi, S., Feb 23 2017, In : New England Journal of Medicine. 376, 8, p. 742-754 13 p.

Research output: Contribution to journalArticle

43 Scopus citations

Reduced dosage of β-catenin provides significant rescue of cardiac outflow tract anomalies in a Tbx1 conditional null mouse model of 22q11.2 deletion syndrome

Racedo, S., Hasten, E., Lin, M., Devakanmalai, G. S., Guo, T., Ozbudak, E. M., Cai, C. L., Zheng, D. & Morrow, B. E., Mar 1 2017, In : PLoS Genetics. 13, 3, e1006687.

Research output: Contribution to journalArticle

7 Scopus citations
2016

LPA receptor activity is basal specific and coincident with early pregnancy and involution during mammary gland postnatal development

Acosta, D., Bagchi, S., Broin, P., Hollern, D., Racedo, S. E., Morrow, B., Sellers, R. S., Greally, J. M., Golden, A., Andrechek, E., Wood, T. & Montagna, C., Nov 3 2016, In : Scientific reports. 6, 35810.

Research output: Contribution to journalArticle

4 Scopus citations

Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome

Mlynarski, E. E., Xie, M., Taylor, D., Sheridan, M. B., Guo, T., Racedo, S. E., McDonald-McGinn, D. M., Chow, E. W. C., Vorstman, J., Swillen, A., Devriendt, K., Breckpot, J., Digilio, M. C., Marino, B., Dallapiccola, B., Philip, N., Simon, T. J., Roberts, A. E., Piotrowicz, M., Bearden, C. E. & 11 others, Eliez, S., Gothelf, D., Coleman, K., Kates, W. R., Devoto, M., Zackai, E., Heine- Suñer, D., Goldmuntz, E., Bassett, A. S., Morrow, B. E. & Emanuel, B. S., Mar 1 2016, In : Human Genetics. 135, 3, p. 273-285 13 p.

Research output: Contribution to journalArticle

24 Scopus citations
2015

Copy-number variation of the glucose transporter gene SLC2A3 and congenital heart defects in the 22q11.2 deletion syndrome

Mlynarski, E. E., Sheridan, M. B., Xie, M., Guo, T., Racedo, S. E., McDonald-Mcginn, D. M., Gai, X., Chow, E. W. C., Vorstman, J., Swillen, A., Devriendt, K., Breckpot, J., Digilio, M. C., Marino, B., Dallapiccola, B., Philip, N., Simon, T. J., Roberts, A. E., Piotrowicz, M., Bearden, C. E. & 12 others, Eliez, S., Gothelf, D., Coleman, K., Kates, W. R., Devoto, M., Zackai, E., Heine-Suñer, D., Shaikh, T. H., Bassett, A. S., Goldmuntz, E., Morrow, B. E. & Emanuel, B. S., May 7 2015, In : American Journal of Human Genetics. 96, 5, p. 753-764 12 p.

Research output: Contribution to journalArticle

41 Scopus citations

Mouse and human CRKL is dosage sensitive for cardiac outflow tract formation

Racedo, S. E., McDonald-Mcginn, D. M., Chung, J. H., Goldmuntz, E., Zackai, E., Emanuel, B. S., Zhou, B., Funke, B. & Morrow, B. E., Feb 5 2015, In : American Journal of Human Genetics. 96, 2, p. 235-244 10 p.

Research output: Contribution to journalArticle

32 Scopus citations
2014

Tbx1 is required autonomously for cell survival and fate in the pharyngeal core mesoderm to form the muscles of mastication

Kong, P., Racedo, S. E., Macchiarulo, S., Hu, Z., Carpenter, C., Guo, T., Wang, T., Zheng, D. & Morrow, B. E., Aug 2014, In : Human molecular genetics. 23, 16, p. 4215-4231 17 p., ddu140.

Research output: Contribution to journalArticle

19 Scopus citations
2012

Dynamic changes of the Golgi apparatus during bovine in vitro oocyte maturation

Racedo, S. E., Rawe, V. Y. & Niemann, H., Apr 1 2012, In : Reproduction. 143, 4, p. 439-447 9 p.

Research output: Contribution to journalArticle

10 Scopus citations
2009

Dynamics of microtubules, motor proteins and 20S proteasomes during bovine oocyte IVM

Racedo, S. E., Branzini, M. C., Salamone, D., Wójcik, C., Rawe, V. Y. & Niemann, H., Feb 16 2009, In : Reproduction, Fertility and Development. 21, 2, p. 304-312 9 p.

Research output: Contribution to journalArticle

6 Scopus citations

Epigenetic modifications and related mRNA expression during bovine oocyte in vitro maturation

Racedo, S. E., Wrenzycki, C., Lepikhov, K., Salamone, D., Walter, J. & Niemann, H., Sep 21 2009, In : Reproduction, Fertility and Development. 21, 6, p. 738-748 11 p.

Research output: Contribution to journalArticle

38 Scopus citations
2008

Effects of follicle size and stages of maturation on mRNA expression in bovine in vitro matured oocytes

Racedo, S. E., Wrenzycki, C., Herrmann, D., Salamone, D. & Niemann, H., Jan 1 2008, In : Molecular Reproduction and Development. 75, 1, p. 17-25 9 p.

Research output: Contribution to journalArticle

34 Scopus citations