Clinical phenotypes of MAGEL2 mutations and deletions

Por Buiting, Karin, Di Donato, Nataliya, Beygo, Jasmin, Bens, Susanne, von der Hagen, Maja, Hackmann, Karl, Horsthemke, Bernhard
Publicado em 2014

Partial deletion of GLRB and GRIA2 in a patient with intellectual disability

Por Hackmann, Karl, Matko, Sarah, Gerlach, Eva-Maria, von der Hagen, Maja, Klink, Barbara, Schrock, Evelin, Rump, Andreas, Di Donato, Nataliya
Publicado em 2013

Identification and characterisation of a novel constitutional PIK3CA mutation in a child lacking the typical segmental overgrowth of “PIK3CA-Related Overgrowth Spectrum” (PROS)

Por Di Donato, Nataliya, Rump, Andreas, Mirzaa, Ghayda M., Alcantara, Diana, Oliver, Antony, Schrock, Evelin, Dobyns, William B., O’Driscoll, Mark
Publicado no Hum Mutat (2015)

Constitutional de novo and postzygotic mutations in isolated cases of cerebral cavernous malformations

Por Rath, Matthias, Spiegler, Stefanie, Nath, Neetika, Schwefel, Konrad, Di Donato, Nataliya, Gerber, Johannes, Korenke, G. Christoph, Hellenbroich, Yorck, Hehr, Ute, Gross, Stephanie, Sure, Ulrich, Zoll, Barbara, Gilberg, Eberhard, Kaderali, Lars, Felbor, Ute
Publicado no Mol Genet Genomic Med (2016)

Identification and Functional Testing of ERCC2 Mutations in a Multi-national Cohort of Patients with Familial Breast- and Ovarian Cancer

Por Rump, Andreas, Benet-Pages, Anna, Schubert, Steffen, Kuhlmann, Jan Dominik, Janavičius, Ramūnas, Macháčková, Eva, Foretová, Lenka, Kleibl, Zdenek, Lhota, Filip, Zemankova, Petra, Betcheva-Krajcir, Elitza, Mackenroth, Luisa, Hackmann, Karl, Lehmann, Janin, Nissen, Anke, DiDonato, Nataliya, Opitz, Romy, Thiele, Holger, Kast, Karin, Wimberger, Pauline, Holinski-Feder, Elke, Emmert, Steffen, Schröck, Evelin, Klink, Barbara
Publicado no PLoS Genet (2016)

Next-generation sequencing in X-linked intellectual disability

Por Tzschach, Andreas, Grasshoff, Ute, Beck-Woedl, Stefanie, Dufke, Claudia, Bauer, Claudia, Kehrer, Martin, Evers, Christina, Moog, Ute, Oehl-Jaschkowitz, Barbara, Di Donato, Nataliya, Maiwald, Robert, Jung, Christine, Kuechler, Alma, Schulz, Solveig, Meinecke, Peter, Spranger, Stephanie, Kohlhase, Jürgen, Seidel, Jörg, Reif, Silke, Rieger, Manuela, Riess, Angelika, Sturm, Marc, Bickmann, Julia, Schroeder, Christopher, Dufke, Andreas, Riess, Olaf, Bauer, Peter
Publicado no Eur J Hum Genet (2015)

Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant

Por Di Donato, Nataliya, Jean, Ying Y., Maga, A. Murat, Krewson, Briana D., Shupp, Alison B., Avrutsky, Maria I., Roy, Achira, Collins, Sarah, Olds, Carissa, Willert, Rebecca A., Czaja, Agnieszka M., Johnson, Rachel, Stover, Jessi A., Gottlieb, Steven, Bartholdi, Deborah, Rauch, Anita, Goldstein, Amy, Boyd-Kyle, Victoria, Aldinger, Kimberly A., Mirzaa, Ghayda M., Nissen, Anke, Brigatti, Karlla W., Puffenberger, Erik G., Millen, Kathleen J., Strauss, Kevin A., Dobyns, William B., Troy, Carol M., Jinks, Robert N.
Publicado no Am J Hum Genet (2016)

Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies

Por Acuna-Hidalgo, Rocio, Deriziotis, Pelagia, Steehouwer, Marloes, Gilissen, Christian, Graham, Sarah A., van Dam, Sipko, Hoover-Fong, Julie, Telegrafi, Aida B., Destree, Anne, Smigiel, Robert, Lambie, Lindsday A., Kayserili, Hülya, Altunoglu, Umut, Lapi, Elisabetta, Uzielli, Maria Luisa, Aracena, Mariana, Nur, Banu G., Mihci, Ercan, Moreira, Lilia M. A., Borges Ferreira, Viviane, Horovitz, Dafne D. G., da Rocha, Katia M., Jezela-Stanek, Aleksandra, Brooks, Alice S., Reutter, Heiko, Cohen, Julie S., Fatemi, Ali, Smitka, Martin, Grebe, Theresa A., Di Donato, Nataliya, Deshpande, Charu, Vandersteen, Anthony, Marques Lourenço, Charles, Dufke, Andreas, Rossier, Eva, Andre, Gwenaelle, Baumer, Alessandra, Spencer, Careni, McGaughran, Julie, Franke, Lude, Veltman, Joris A., De Vries, Bert B. A., Schinzel, Albert, Fisher, Simon E., Hoischen, Alexander, van Bon, Bregje W.
Publicado no PLoS Genet (2017)

Baraitser–Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases

Por Verloes, Alain, Di Donato, Nataliya, Masliah-Planchon, Julien, Jongmans, Marjolijn, Abdul-Raman, Omar A, Albrecht, Beate, Allanson, Judith, Brunner, Han, Bertola, Debora, Chassaing, Nicolas, David, Albert, Devriendt, Koen, Eftekhari, Pirayeh, Drouin-Garraud, Valérie, Faravelli, Francesca, Faivre, Laurence, Giuliano, Fabienne, Guion Almeida, Leina, Juncos, Jorge, Kempers, Marlies, Eker, Hatice Koçak, Lacombe, Didier, Lin, Angela, Mancini, Grazia, Melis, Daniela, Lourenço, Charles Marques, Siu, Victoria Mok, Morin, Gilles, Nezarati, Marjan, Nowaczyk, Malgorzata J M, Ramer, Jeanette C, Osimani, Sara, Philip, Nicole, Pierpont, Mary Ella, Procaccio, Vincent, Roseli, Zeichi-Seide, Rossi, Massimiliano, Rusu, Cristina, Sznajer, Yves, Templin, Ludivine, Uliana, Vera, Klaus, Mirjam, Van Bon, Bregje, Van Ravenswaaij, Conny, Wainer, Bruce, Fry, Andrew E, Rump, Andreas, Hoischen, Alexander, Drunat, Séverine, Rivière, Jean-Baptiste, Dobyns, William B, Pilz, Daniela T
Publicado no Eur J Hum Genet (2015)

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

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

Por Snijders Blok, Lot, Madsen, Erik, Juusola, Jane, Gilissen, Christian, Baralle, Diana, Reijnders, Margot R.F., Venselaar, Hanka, Helsmoortel, Céline, Cho, Megan T., Hoischen, Alexander, Vissers, Lisenka E.L.M., Koemans, Tom S., Wissink-Lindhout, Willemijn, Eichler, Evan E., Romano, Corrado, Van Esch, Hilde, Stumpel, Connie, Vreeburg, Maaike, Smeets, Eric, Oberndorff, Karin, van Bon, Bregje W.M., Shaw, Marie, Gecz, Jozef, Haan, Eric, Bienek, Melanie, Jensen, Corinna, Loeys, Bart L., Van Dijck, Anke, Innes, A. Micheil, Racher, Hilary, Vermeer, Sascha, Di Donato, Nataliya, Rump, Andreas, Tatton-Brown, Katrina, Parker, Michael J., Henderson, Alex, Lynch, Sally A., Fryer, Alan, Ross, Alison, Vasudevan, Pradeep, Kini, Usha, Newbury-Ecob, Ruth, Chandler, Kate, Male, Alison, Dijkstra, Sybe, Schieving, Jolanda, Giltay, Jacques, van Gassen, Koen L.I., Schuurs-Hoeijmakers, Janneke, Tan, Perciliz L., Pediaditakis, Igor, Haas, Stefan A., Retterer, Kyle, Reed, Patrick, Monaghan, Kristin G., Haverfield, Eden, Natowicz, Marvin, Myers, Angela, Kruer, Michael C., Stein, Quinn, Strauss, Kevin A., Brigatti, Karlla W., Keating, Katherine, Burton, Barbara K., Kim, Katherine H., Charrow, Joel, Norman, Jennifer, Foster-Barber, Audrey, Kline, Antonie D., Kimball, Amy, Zackai, Elaine, Harr, Margaret, Fox, Joyce, McLaughlin, Julie, Lindstrom, Kristin, Haude, Katrina M., van Roozendaal, Kees, Brunner, Han, Chung, Wendy K., Kooy, R. Frank, Pfundt, Rolph, Kalscheuer, Vera, Mehta, Sarju G., Katsanis, Nicholas, Kleefstra, Tjitske
Publicado no Am J Hum Genet (2015)