From microscopes to microarrays: dissecting recurrent chromosomal rearrangements

Por Emanuel, Beverly S., Saitta, Sulagna C.
Publicado em 2007

MAP’ing CNS Development and Cognition: An ERKsome Process

Por Samuels, Ivy S., Saitta, Sulagna C., Landreth, Gary E.
Publicado em 2009

Interstitial Chromosome 3p14.1 Deletion due to a Maternal Insertion: Phenotype and Association with Balanced Parental Rearrangement

Por Hajek, Catherine, Wang, Jia-Chi, Mahon, Loretta W., Martinez, Ariadna, Saitta, Sulagna C.
Publicado no Mol Syndromol (2016)

Deletion of ERK2 Mitogen-Activated Protein Kinase Identifies Its Key Roles in Cortical Neurogenesis and Cognitive Function

Por Samuels, Ivy S., Karlo, J. Colleen, Faruzzi, Alicia N., Pickering, Kathryn, Herrup, Karl, Sweatt, J. David, Saitta, Sulagna C., Landreth, Gary E.
Publicado no J Neurosci (2008)

Recurrent interstitial 1p36 deletions: evidence for germline mosaicism and complex rearrangement breakpoints

Por Gajecka, Marzena, Saitta, Sulagna C., Gentles, Andrew J., Campbell, Lindsey, Ciprero, Karen, Geiger, Elizabeth, Catherwood, Anne, Rosenfeld, Jill A., Shaikh, Tamim, Shaffer, Lisa G.
Publicado em 2010

Low copy repeats mediate distal chromosome 22q11.2 deletions: Sequence analysis predicts breakpoint mechanisms

Por Shaikh, Tamim H., O’Connor, Ronald J., Pierpont, Mary Ella, McGrath, James, Hacker, April M., Nimmakayalu, Manjunath, Geiger, Elizabeth, Emanuel, Beverly S., Saitta, Sulagna C.
Publicado em 2007

Independent De Novo 22q11.2 Deletions in First Cousins With DiGeorge/Velocardiofacial Syndrome

Por Saitta, Sulagna C., Harris, Stacy E., McDonald-McGinn, Donna M., Emanuel, Beverly S., Tonnesen, Melissa K., Zackai, Elaine H., Seitz, Suzanne C., Driscoll, Deborah A.
Publicado em 2004

Aberrant interchromosomal exchanges are the predominant cause of the 22q11.2 deletion

Por Saitta, Sulagna C., Harris, Stacy E., Gaeth, Ann P., Driscoll, Deborah A., McDonald-McGinn, Donna M., Maisenbacher, Melissa K., Yersak, Jill M., Chakraborty, Prabir K., Hacker, April M., Zackai, Elaine H., Ashley, Terry, Emanuel, Beverly S.
Publicado em 2003

EFFECTS OF COMT GENOTYPE ON BEHAVIORAL SYMPTOMATOLOGY IN THE 22q11.2 DELETION SYNDROME

Por Bearden, Carrie E., Jawad, Abbas F., Lynch, David R., Monterossso, John R., Sokol, Set, McDonald-McGinn, Donna M., Saitta, Sulagna C., Harris, Stacy E., Moss, Edward, Wang, Paul P., Zackai, Elaine, Emanuel, Beverly S., Simon, Tony J.
Publicado em 2005

Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart Defects

Por Boyle, Lia, Wamelink, Mirjam M.C., Salomons, Gajja S., Roos, Birthe, Pop, Ana, Dauber, Andrew, Hwa, Vivian, Andrew, Melissa, Douglas, Jessica, Feingold, Murray, Kramer, Nancy, Saitta, Sulagna, Retterer, Kyle, Cho, Megan T., Begtrup, Amber, Monaghan, Kristin G., Wynn, Julia, Chung, Wendy K.
Publicado no Am J Hum Genet (2016)

Mouse and human phenotypes indicate a critical conserved role for ERK2 signaling in neural crest development

Por Newbern, Jason, Zhong, Jian, Wickramasinghe, Rasika S., Li, Xiaoyan, Wu, Yaohong, Samuels, Ivy, Cherosky, Natalie, Karlo, J. Colleen, O'Loughlin, Brianne, Wikenheiser, Jamie, Gargesha, Madhusudhana, Doughman, Yong Qiu, Charron, Jean, Ginty, David D., Watanabe, Michiko, Saitta, Sulagna C., Snider, William D., Landreth, Gary E.
Publicado em 2008

TUBB4A de novo mutations cause isolated hypomyelination

Por Pizzino, Amy, Pierson, Tyler Mark, Guo, Yiran, Helman, Guy, Fortini, Sebastian, Guerrero, Kether, Saitta, Sulagna, Murphy, Jennifer Louise Patrick, Padiath, Quasar, Xie, Yi, Hakonarson, Hakon, Xu, Xun, Funari, Tara, Fox, Michelle, Taft, Ryan J., van der Knaap, Marjo S., Bernard, Geneviève, Schiffmann, Raphael, Simons, Cas, Vanderver, Adeline
Publicado em 2014

Clinical Features of Three Girls With Mosaic Genome-Wide Paternal Uniparental Isodisomy

Por Kalish, Jennifer M., Conlin, Laura K., Bhatti, Tricia R., Dubbs, Holly A., Harris, Mary Catherine, Izumi, Kosuke, Mostoufi-Moab, Sogol, Mulchandani, Surabhi, Saitta, Sulagna, States, Lisa J., Swarr, Daniel T., Wilkens, Alisha B., Zackai, Elaine H., Zelley, Kristin, Bartolomei, Marisa S., Nichols, Kim E., Palladino, Andrew A., Spinner, Nancy B., Deardorff, Matthew A.
Publicado em 2013

Identification of familial and de novo microduplications of 22q11.21–q11.23 distal to the 22q11.21 microdeletion syndrome region

Por Coppinger, Justine, McDonald-McGinn, Donna, Zackai, Elaine, Shane, Kate, Atkin, Joan F., Asamoah, Alexander, Leland, Robert, Weaver, David D., Lansky-Shafer, Susan, Schmidt, Karen, Feldman, Heidi, Cohen, William, Phalin, Judy, Powell, Berkley, Ballif, Blake C., Theisen, Aaron, Geiger, Elizabeth, Haldeman-Englert, Chad, Shaikh, Tamim H., Saitta, Sulagna, Bejjani, Bassem A., Shaffer, Lisa G.
Publicado em 2009

PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome

Por Nevado, Julián, Rosenfeld, Jill A, Mena, Rocío, Palomares-Bralo, María, Vallespín, Elena, Ángeles Mori, María, Tenorio, Jair A, Gripp, Karen W, Denenberg, Elizabeth, del Campo, Miguel, Plaja, Alberto, Martín-Arenas, Rubén, Santos-Simarro, Fernando, Armengol, Lluis, Gowans, Gordon, Orera, María, Sanchez-Hombre, M Carmen, Corbacho-Fernández, Esther, Fernández-Jaén, Alberto, Haldeman-Englert, Chad, Saitta, Sulagna, Dubbs, Holly, Bénédicte, Duban B, Li, Xia, Devaney, Lani, Dinulos, Mary Beth, Vallee, Stephanie, Crespo, M Carmen, Fernández, Blanca, Fernández-Montaño, Victoria E, Rueda-Arenas, Inmaculada, de Torres, María Luisa, Ellison, Jay W, Raskin, Salmo, Venegas-Vega, Carlos A, Fernández-Ramírez, Fernando, Delicado, Alicia, García-Miñaúr, Sixto, Lapunzina, Pablo
Publicado no Eur J Hum Genet (2015)

PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution

Por Mirzaa, Ghayda, Timms, Andrew E., Conti, Valerio, Boyle, Evan August, Girisha, Katta M., Martin, Beth, Kircher, Martin, Olds, Carissa, Juusola, Jane, Collins, Sarah, Park, Kaylee, Carter, Melissa, Glass, Ian, Krägeloh-Mann, Inge, Chitayat, David, Parikh, Aditi Shah, Bradshaw, Rachael, Torti, Erin, Braddock, Stephen, Burke, Leah, Ghedia, Sondhya, Stephan, Mark, Stewart, Fiona, Prasad, Chitra, Napier, Melanie, Saitta, Sulagna, Straussberg, Rachel, Gabbett, Michael, O’Connor, Bridget C., Keegan, Catherine E., Yin, Lim Jiin, Lai, Angeline Hwei Meeng, Martin, Nicole, McKinnon, Margaret, Addor, Marie-Claude, Boccuto, Luigi, Schwartz, Charles E., Lanoel, Agustina, Conway, Robert L., Devriendt, Koenraad, Tatton-Brown, Katrina, Pierpont, Mary Ella, Painter, Michael, Worgan, Lisa, Reggin, James, Hennekam, Raoul, Tsuchiya, Karen, Pritchard, Colin C., Aracena, Mariana, Gripp, Karen W., Cordisco, Maria, Van Esch, Hilde, Garavelli, Livia, Curry, Cynthia, Goriely, Anne, Kayserilli, Hulya, Shendure, Jay, Graham, John, Guerrini, Renzo, Dobyns, William B.
Publicado no JCI Insight (2016)

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance

Por Kaiser, Frank J., Ansari, Morad, Braunholz, Diana, Concepción Gil-Rodríguez, María, Decroos, Christophe, Wilde, Jonathan J., Fincher, Christopher T., Kaur, Maninder, Bando, Masashige, Amor, David J., Atwal, Paldeep S., Bahlo, Melanie, Bowman, Christine M., Bradley, Jacquelyn J., Brunner, Han G., Clark, Dinah, Del Campo, Miguel, Di Donato, Nataliya, Diakumis, Peter, Dubbs, Holly, Dyment, David A., Eckhold, Juliane, Ernst, Sarah, Ferreira, Jose C., Francey, Lauren J., Gehlken, Ulrike, Guillén-Navarro, Encarna, Gyftodimou, Yolanda, Hall, Bryan D., Hennekam, Raoul, Hudgins, Louanne, Hullings, Melanie, Hunter, Jennifer M., Yntema, Helger, Innes, A. Micheil, Kline, Antonie D., Krumina, Zita, Lee, Hane, Leppig, Kathleen, Lynch, Sally Ann, Mallozzi, Mark B., Mannini, Linda, Mckee, Shane, Mehta, Sarju G., Micule, Ieva, Mohammed, Shehla, Moran, Ellen, Mortier, Geert R., Moser, Joe-Ann S., Noon, Sarah E., Nozaki, Naohito, Nunes, Luis, Pappas, John G., Penney, Lynette S., Pérez-Aytés, Antonio, Petersen, Michael B., Puisac, Beatriz, Revencu, Nicole, Roeder, Elizabeth, Saitta, Sulagna, Scheuerle, Angela E., Schindeler, Karen L., Siu, Victoria M., Stark, Zornitza, Strom, Samuel P., Thiese, Heidi, Vater, Inga, Willems, Patrick, Williamson, Kathleen, Wilson, Louise C., Hakonarson, Hakon, Quintero-Rivera, Fabiola, Wierzba, Jolanta, Musio, Antonio, Gillessen-Kaesbach, Gabriele, Ramos, Feliciano J., Jackson, Laird G., Shirahige, Katsuhiko, Pié, Juan, Christianson, David W., Krantz, Ian D., Fitzpatrick, David R., Deardorff, Matthew A.
Publicado em 2014