Familial segregation of a 5q15‐q21.2 deletion associated with facial dysmorphism and speech delay

por Zepeda‐Mendoza, Cinthya, Goodenberger, McKinsey L., Kuhl, Ashley, Rice, Gregory M., Hoppman, Nicole
Publicado 2019

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

Position effects of 22q13 rearrangements on candidate genes in Phelan-McDermid syndrome

por Srikanth, Sujata, Jain, Lavanya, Zepeda-Mendoza, Cinthya, Cascio, Lauren, Jones, Kelly, Pauly, Rini, DuPont, Barb, Rogers, Curtis, Sarasua, Sara, Phelan, Katy, Morton, Cynthia, Boccuto, Luigi
Publicado 2021

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

The Prognostic Role of MYC Structural Variants Identified by NGS and FISH in Multiple Myeloma

por Sharma, Neeraj, Smadbeck, James B., Abdallah, Nadine, Zepeda-Mendoza, Cinthya, Binder, Moritz, Pearce, Kathryn E., Asmann, Yan W., Peterson, Jess F., Ketterling, Rhett P., Greipp, Patricia T., Bergsagel, P. Leif, Rajkumar, S. Vincent, Kumar, Shaji K., Baughn, Linda B.
Publicado 2021

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

Myeloid malignancies with 5q and 7q deletions are associated with extreme genomic complexity, biallelic TP53 variants, and very poor prognosis

por Pitel, Beth A., Sharma, Neeraj, Zepeda-Mendoza, Cinthya, Smadbeck, James B., Pearce, Kathryn E., Cook, Joselle M., Vasmatzis, George, Sachs, Zohar, Kanagal-Shamanna, Rashmi, Viswanatha, David, Xiao, Sheng, Jenkins, Robert B., Xu, Xinjie, Hoppman, Nicole L., Ketterling, Rhett P., Peterson, Jess F., Greipp, Patricia T., Baughn, Linda B.
Publicado 2021

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

Prospective evaluation of genome sequencing to compare conventional cytogenetics in acute myeloid leukemia

por Pitel, Beth A., Zepeda-Mendoza, Cinthya, Sachs, Zohar, Tang, Hongwei, Shivaram, Suganti, Sharma, Neeraj, Smadbeck, James B., Smoley, Stephanie A., Pearce, Kathryn E., Luoma, Ivy M., Cook, Joselle, Litzow, Mark R., Hoppman, Nicole L., Viswanatha, David, Xu, Xinjie, Ketterling, Rhett P., Greipp, Patricia T., Peterson, Jess F., Baughn, Linda B.
Publicado 2023

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