Genetic islands of Streptococcus agalactiae strains NEM316 and 2603VR and their presence in other Group B Streptococcal strains

অনুযায়ী Herbert, Mark A, Beveridge, Catriona JE, McCormick, David, Aten, Emmelien, Jones, Nicola, Snyder, Lori AS, Saunders, Nigel J
প্রকাশিত 2005

Terminal Osseous Dysplasia Is Caused by a Single Recurrent Mutation in the FLNA Gene

অনুযায়ী Sun, Yu, Almomani, Rowida, Aten, Emmelien, Celli, Jacopo, van der Heijden, Jaap, Venselaar, Hanka, Robertson, Stephen P., Baroncini, Anna, Franco, Brunella, Basel-Vanagaite, Lina, Horii, Emiko, Drut, Ricardo, Ariyurek, Yavuz, den Dunnen, Johan T., Breuning, Martijn H.
প্রকাশিত 2010

The prevalence of genetic diagnoses in fetuses with severe congenital heart defects

অনুযায়ী van Nisselrooij, Amber E. L., Lugthart, Malou A., Clur, Sally-Ann, Linskens, Ingeborg H., Pajkrt, Eva, Rammeloo, Lukas A., Rozendaal, Lieke, Blom, Nico A., van Lith, Jan M. M., Knegt, Alida C., Hoffer, Mariëtte J. V., Aten, Emmelien, Santen, Gijs W. E., Haak, Monique C.
প্রকাশিত Genet Med (2020)

Structural genomic variation in childhood epilepsies with complex phenotypes

অনুযায়ী Helbig, Ingo, Swinkels, Marielle E M, Aten, Emmelien, Caliebe, Almuth, van 't Slot, Ruben, Boor, Rainer, von Spiczak, Sarah, Muhle, Hiltrud, Jähn, Johanna A, van Binsbergen, Ellen, van Nieuwenhuizen, Onno, Jansen, Floor E, Braun, Kees P J, de Haan, Gerrit-Jan, Tommerup, Niels, Stephani, Ulrich, Hjalgrim, Helle, Poot, Martin, Lindhout, Dick, Brilstra, Eva H, Møller, Rikke S, Koeleman, Bobby PC
প্রকাশিত 2014

The Implicitome: A Resource for Rationalizing Gene-Disease Associations

অনুযায়ী Hettne, Kristina M., Thompson, Mark, van Haagen, Herman H. H. B. M., van der Horst, Eelke, Kaliyaperumal, Rajaram, Mina, Eleni, Tatum, Zuotian, Laros, Jeroen F. J., van Mulligen, Erik M., Schuemie, Martijn, Aten, Emmelien, Li, Tong Shu, Bruskiewich, Richard, Good, Benjamin M., Su, Andrew I., Kors, Jan A., den Dunnen, Johan, van Ommen, Gert-Jan B., Roos, Marco, ‘t Hoen, Peter A.C., Mons, Barend, Schultes, Erik A.
প্রকাশিত PLoS One (2016)

The phenotypic spectrum of Schaaf-Yang syndrome – 18 new affected individuals from 14 families

অনুযায়ী Fountain, Michael D., Aten, Emmelien, Cho, Megan T., Juusola, Jane, Walkiewicz, Magdalena A., Ray, Joseph W., Xia, Fan, Yang, Yaping, Graham, Brett H., Bacino, Carlos A., Potocki, Lorraine, van Haeringen, Arie, Ruivenkamp, Claudia A.L., Mancias, Pedro, Northrup, Hope, Kukolich, Mary K., Weiss, Marjan M., van Ravenswaaij-Arts, Conny M.A., Mathijssen, Inge B., Levesque, Sebastien, Meeks, Naomi, Rosenfeld, Jill A., Lemke, Danielle, Hamosh, Ada, Lewis, Suzanne K., Race, Simone, Stewart, Laura L., Hay, Beverly, Lewis, Andrea M., Guerreiro, Rita L., Bras, Jose T., Martins, Marcia P., Derksen-Lubsen, Gerarda, Peeters, Els, Stumpel, Connie, Stegmann, Sander, Bok, Levinus A., Santen, Gijs W.E., Schaaf, Christian P.
প্রকাশিত Genet Med (2016)

Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder

অনুযায়ী Latypova, Xenia, Vincent, Marie, Mollé, Alice, Adebambo, Oluwadamilare A., Fourgeux, Cynthia, Khan, Tahir N., Caro, Alfonso, Rosello, Monica, Orellana, Carmen, Niyazov, Dmitriy, Lederer, Damien, Deprez, Marie, Capri, Yline, Kannu, Peter, Tabet, Anne Claude, Levy, Jonathan, Aten, Emmelien, den Hollander, Nicolette, Splitt, Miranda, Walia, Jagdeep, Immken, Ladonna L., Stankiewicz, Pawel, McWalter, Kirsty, Suchy, Sharon, Louie, Raymond J., Bell, Shannon, Stevenson, Roger E., Rousseau, Justine, Willem, Catherine, Retiere, Christelle, Yang, Xiang-Jiao, Campeau, Philippe M., Martinez, Francisco, Rosenfeld, Jill A., Le Caignec, Cédric, Küry, Sébastien, Mercier, Sandra, Moradkhani, Kamran, Conrad, Solène, Besnard, Thomas, Cogné, Benjamin, Katsanis, Nicholas, Bézieau, Stéphane, Poschmann, Jeremie, Davis, Erica E., Isidor, Bertrand
প্রকাশিত Am J Hum Genet (2021)

Targeted sequencing identifies 91 neurodevelopmental disorder risk genes with autism and developmental disability biases

অনুযায়ী Stessman, Holly A. F., Xiong, Bo, Coe, Bradley P., Wang, Tianyun, Hoekzema, Kendra, Fenckova, Michaela, Kvarnung, Malin, Gerdts, Jennifer, Trinh, Sandy, Cosemans, Nele, Vives, Laura, Lin, Janice, Turner, Tychele N., Santen, Gijs, Ruivenkamp, Claudia, Kriek, Marjolein, van Haeringen, Arie, Aten, Emmelien, Friend, Kathryn, Liebelt, Jan, Barnett, Christopher, Haan, Eric, Shaw, Marie, Gecz, Jozef, Anderlid, Britt-Marie, Nordgren, Ann, Lindstrand, Anna, Schwartz, Charles, Kooy, R. Frank, Vandeweyer, Geert, Helsmoortel, Celine, Romano, Corrado, Alberti, Antonino, Vinci, Mirella, Avola, Emanuela, Giusto, Stefania, Courchesne, Eric, Pramparo, Tiziano, Pierce, Karen, Nalabolu, Srinivasa, Amaral, David, Scheffer, Ingrid E., Delatycki, Martin B., Lockhart, Paul J., Hormozdiari, Fereydoun, Harich, Benjamin, Castells-Nobau, Anna, Xia, Kun, Peeters, Hilde, Nordenskjöld, Magnus, Schenck, Annette, Bernier, Raphael A., Eichler, Evan E.
প্রকাশিত Nat Genet (2017)