The Iceberg under Water: Unexplored Complexity of Chromoanagenesis in Congenital Disorders

door Zepeda-Mendoza, Cinthya J., Morton, Cynthia C.
Gepubliceerd in Am J Hum Genet (2019)

Computational Prediction of Position Effects of Human Chromosome Rearrangements

door Zepeda-Mendoza, Cinthya J., Menon, Shreya, Morton, Cynthia C.
Gepubliceerd in Curr Protoc Hum Genet (2018)

Transient Pairing of Homologous Oct4 Alleles Accompanies the Onset of Embryonic Stem Cell Differentiation

door Hogan, Megan S., Parfitt, David-Emlyn, Zepeda-Mendoza, Cinthya J., Shen, Michael M., Spector, David L.
Gepubliceerd in Cell Stem Cell (2015)

Phenotypic interpretation of complex chromosomal rearrangements informed by nucleotide-level resolution and structural organization of chromatin

door Zepeda-Mendoza, Cinthya J., Bardon, Alexandra, Kammin, Tammy, Harris, David J., Cox, Helen, Redin, Claire, Ordulu, Zehra, Talkowski, Michael E., Morton, Cynthia C.
Gepubliceerd in Eur J Hum Genet (2018)

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

door 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
Gepubliceerd in Cold Spring Harb Mol Case Stud (2019)

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

door 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.
Gepubliceerd in Clin Case Rep (2020)

Identical repeated backbone of the human genome

door 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
Gepubliceerd in 2010

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

door 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.
Gepubliceerd in BMC Genomics (2015)

Estrogen-related receptor gamma implicated in a phenotype including hearing loss and mild developmental delay

door Schilit, Samantha LP, Currall, Benjamin B, Yao, Ruen, Hanscom, Carrie, Collins, Ryan L, Pillalamarri, Vamsee, Lee, Dong-Young, Kammin, Tammy, Zepeda-Mendoza, Cinthya J, Mononen, Tarja, Nolan, Lisa S, Gusella, James F, Talkowski, Michael E, Shen, Jun, Morton, Cynthia C
Gepubliceerd in Eur J Hum Genet (2016)

Variable expressivity of syndromic BMP4-related eye, brain, and digital anomalies: A review of the literature and description of three new cases

door Blackburn, Patrick R., Zepeda-Mendoza, Cinthya J., Kruisselbrink, Teresa M., Schimmenti, Lisa A., García-Miñaur, Sixto, Palomares, María, Nevado, Julián, Mori, María A., Le Meur, Guylène, Klee, Eric W., Le Caignec, Cédric, Lapunzina, Pablo, Isidor, Bertrand, Babovic-Vuksanovic, Dusica
Gepubliceerd in Eur J Hum Genet (2019)

Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements

door Zepeda-Mendoza, Cinthya J., Ibn-Salem, Jonas, Kammin, Tammy, Harris, David J., Rita, Debra, Gripp, Karen W., MacKenzie, Jennifer J., Gropman, Andrea, Graham, Brett, Shaheen, Ranad, Alkuraya, Fowzan S., Brasington, Campbell K., Spence, Edward J., Masser-Frye, Diane, Bird, Lynne M., Spiegel, Erica, Sparkes, Rebecca L., Ordulu, Zehra, Talkowski, Michael E., Andrade-Navarro, Miguel A., Robinson, Peter N., Morton, Cynthia C.
Gepubliceerd in Am J Hum Genet (2017)

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

door 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.
Gepubliceerd in 2013

Loss of LDAH associated with prostate cancer and hearing loss

door Currall, Benjamin B, Chen, Ming, Sallari, Richard C, Cotter, Maura, Wong, Kristen E, Robertson, Nahid G, Penney, Kathryn L, Lunardi, Andrea, Reschke, Markus, Hickox, Ann E, Yin, Yanbo, Wong, Garrett T, Fung, Jacqueline, Brown, Kerry K, Williamson, Robin E, Sinnott-Armstrong, Nicholas A, Kammin, Tammy, Ivanov, Andrew, Zepeda-Mendoza, Cinthya J, Shen, Jun, Quade, Bradley J, Signoretti, Sabina, Arnos, Kathleen S, Banks, Alexander S, Patsopoulos, Nikolaos, Liberman, M Charles, Kellis, Manolis, Pandolfi, Pier Paolo, Morton, Cynthia C
Gepubliceerd in Hum Mol Genet (2018)

Corrigendum: Loss of LDAH associated with prostate cancer and hearing loss

door Currall, Benjamin B, Chen, Ming, Sallari, Richard C, Cotter, Maura, Wong, Kristen E, Robertson, Nahid G, Penney, Kathryn L, Lunardi, Andrea, Reschke, Markus, Hickox, Ann E, Yin, Yanbo, Wong, Garrett T, Fung, Jacqueline, Brown, Kerry K, Williamson, Robin E, Sinnott-Armstrong, Nicholas A, Kammin, Tammy, Ivanov, Andrew, Zepeda-Mendoza, Cinthya J, Shen, Jun, Quade, Bradley J, Signoretti, Sabina, Arnos, Kathleen S, Banks, Alexander S, Patsopoulos, Nikolaos, Liberman, M Charles, Kellis, Manolis, Pandolfi, Pier Paolo, Morton, Cynthia C
Gepubliceerd in Hum Mol Genet (2019)

The Genomic Landscape of Balanced Cytogenetic Abnormalities Associated with Human Congenital Anomalies

door Redin, Claire, Brand, Harrison, Collins, Ryan L., Kammin, Tammy, Mitchell, Elyse, Hodge, Jennelle C., Hanscom, Carrie, Pillalamarri, Vamsee, Seabra, Catarina M., Abbott, Mary-Alice, Abdul-Rahman, Omar A., Aberg, Erika, Adley, Rhett, Alcaraz-Estrada, Sofia L., Alkuraya, Fowzan S., An, Yu, Anderson, Mary-Anne, Antolik, Caroline, Anyane-Yeboa, Kwame, Atkin, Joan F., Bartell, Tina, Bernstein, Jonathan A., Beyer, Elizabeth, Blumenthal, Ian, Bongers, Ernie M.H.F., Brilstra, Eva H., Brown, Chester W., Brüggenwirth, Hennie T., Callewaert, Bert, Chiang, Colby, Corning, Ken, Cox, Helen, Cuppen, Edwin, Currall, Benjamin B., Cushing, Tom, David, Dezso, Deardorff, Matthew A., Dheedene, Annelies, D’Hooghe, Marc, de Vries, Bert B.A., Earl, Dawn L., Ferguson, Heather L., Fisher, Heather, FitzPatrick, David R., Gerrol, Pamela, Giachino, Daniela, Glessner, Joseph T., Gliem, Troy, Grady, Margo, Graham, Brett H., Griffis, Cristin, Gripp, Karen W., Gropman, Andrea L., Hanson-Kahn, Andrea, Harris, David J., Hayden, Mark A., Hill, Rosamund, Hochstenbach, Ron, Hoffman, Jodi D., Hopkin, Robert J., Hubshman, Monika W., Innes, A. Micheil, Irons, Mira, Irving, Melita, Jacobsen, Jessie C., Janssens, Sandra, Jewett, Tamison, Johnson, John P., Jongmans, Marjolijn C., Kahler, Stephen G., Koolen, David A., Korzelius, Jerome, Kroisel, Peter M., Lacassie, Yves, Lawless, William, Lemyre, Emmanuelle, Leppig, Kathleen, Levin, Alex V., Li, Haibo, Li, Hong, Liao, Eric C., Lim, Cynthia, Lose, Edward J., Lucente, Diane, Macera, Michael J., Manavalan, Poornima, Mandrile, Giorgia, Marcelis, Carlo L., Margolin, Lauren, Mason, Tamara, Masser-Frye, Diane, McClellan, Michael W., Zepeda Mendoza, Cinthya J., Menten, Björn, Middelkamp, Sjors, Mikami, Liya R., Moe, Emily, Mohammed, Shehla, Mononen, Tarja, Mortenson, Megan E., Moya, Graciela, Nieuwint, Aggie W., Ordulu, Zehra, Parkash, Sandhya, Pauker, Susan P., Pereira, Shahrin, Perrin, Danielle, Phelan, Katy, Piña Aguilar, Raul E., Poddighe, Pino J., Pregno, Giulia, Raskin, Salmo, Reis, Linda, Rhead, William, Rita, Debra, Renkens, Ivo, Roelens, Filip, Ruliera, Jayla, Rump, Patrick, Schilit, Samantha L.P., Shaheen, Ranad, Sparkes, Rebecca, Spiegel, Erica, Stevens, Blair, Stone, Matthew R., Tagoe, Julia, Thakuria, Joseph V., van Bon, Bregje W., van de Kamp, Jiddeke, van Der Burgt, Ineke, van Essen, Ton, van Ravenswaaij-Arts, Conny M., van Roosmalen, Markus J., Vergult, Sarah, Volker-Touw, Catharina M.L., Warburton, Dorothy P., Waterman, Matthew J., Wiley, Susan, Wilson, Anna, Yerena-de Vega, Maria de la Concepcion A., Zori, Roberto T., Levy, Brynn, Brunner, Han G., de Leeuw, Nicole, Kloosterman, Wigard P., Thorland, Erik C., Morton, Cynthia C., Gusella, James F., Talkowski, Michael E.
Gepubliceerd in Nat Genet (2016)