Editorial: Chromosome structural variants: Epidemiology, identification and contribution to human diseases

por Dong, Zirui, David, Dezso, Gonzaga-Jauregui, Claudia, Morton, Cynthia C., Zepeda-Mendoza, Cinthya J.
Publicado 2022

Molecular characterization and reclassification of a 1.18 Mbp DMD duplication following positive carrier screening for Duchenne/Becker muscular dystrophy

por Zepeda‐Mendoza, Cinthya J., Bontrager, Jordan E., Fisher, Camille F., McDonald, Amber, George‐Abraham, Jaya K., Hasadsri, Linda
Publicado 2022

An intragenic duplication of TRPS1 leading to abnormal transcripts and causing trichorhinophalangeal syndrome type I

por Zepeda-Mendoza, Cinthya J., Cousin, Margot A., Basu, Shubham, Jenkinson, Garrett, Oliver, Gavin, Pittock, Siobhan T., Baughn, Linda B., Klee, Eric W., Babovic-Vuksanovic, Dusica
Publicado 2019

Prenatal characterization of a novel inverted SMAD2 duplication by mate pair sequencing in a fetus with dextrocardia

por Zepeda‐Mendoza, Cinthya J., Essendrup, Anna, Smoley, Stephanie A., Johnson, Sarah H., Hoppman, Nicole L, Vasmatzis, George, Jackson, Daniel L., Kearney, Hutton M., Baughn, Linda B.
Publicado 2020

Identical repeated backbone of the human genome

por Zepeda-Mendoza, Cinthya J, Lemus, Tzitziki, Yáñez, Omar, García, Delfino, Valle-García, David, Meza-Sosa, Karla F, Gutiérrez-Arcelus, María, Márquez-Ortiz, Yamile, Domínguez-Vidaña, Rocío, Gonzaga-Jauregui, Claudia, Flores, Margarita, Palacios, Rafael
Publicado 2010

Quantitative analysis of chromatin interaction changes upon a 4.3 Mb deletion at mouse 4E2

por Zepeda-Mendoza, Cinthya J., Mukhopadhyay, Swagatam, Wong, Emily S., Harder, Nathalie, Splinter, Erik, de Wit, Elzo, Eckersley-Maslin, Melanie A., Ried, Thomas, Eils, Roland, Rohr, Karl, Mills, Alea, de Laat, Wouter, Flicek, Paul, Sengupta, Anirvan M., Spector, David L.
Publicado 2015

Characterization of unusual iAMP21 B‐lymphoblastic leukemia (iAMP21‐ALL) from the Mayo Clinic and Children's Oncology Group

por Koleilat, Alaa, Smadbeck, James B., Zepeda‐Mendoza, Cinthya J., Williamson, Cynthia M., Pitel, Beth A., Golden, Crystal L., Xu, Xinjie, Greipp, Patricia T., Ketterling, Rhett P., Hoppman, Nicole L., Peterson, Jess F., Harrison, Christine J., Akkari, Yassmine M. N., Tsuchiya, Karen D., Shago, Mary, Baughn, Linda B.
Publicado 2022

Role of SWI/SNF in acute leukemia maintenance and enhancer-mediated Myc regulation

por Shi, Junwei, Whyte, Warren A., Zepeda-Mendoza, Cinthya J., Milazzo, Joseph P., Shen, Chen, Roe, Jae-Seok, Minder, Jessica L., Mercan, Fatih, Wang, Eric, Eckersley-Maslin, Melanie A., Campbell, Amy E., Kawaoka, Shinpei, Shareef, Sarah, Zhu, Zhu, Kendall, Jude, Muhar, Matthias, Haslinger, Christian, Yu, Ming, Roeder, Robert G., Wigler, Michael H., Blobel, Gerd A., Zuber, Johannes, Spector, David L., Young, Richard A., Vakoc, Christopher R.
Publicado 2013