Increased Insulin/Insulin Growth Factor Signaling Advances the Onset of Metamorphosis in Drosophila

Por Walkiewicz, Magdalena A., Stern, Michael
Publicado em 2009

De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive

Por Tokita, Mari J., Braxton, Alicia A., Shao, Yunru, Lewis, Andrea M., Vincent, Marie, Küry, Sébastien, Besnard, Thomas, Isidor, Bertrand, Latypova, Xénia, Bézieau, Stéphane, Liu, Pengfei, Motter, Connie S., Melver, Catherine Ward, Robin, Nathaniel H., Infante, Elena M., McGuire, Marianne, El-Gharbawy, Areeg, Littlejohn, Rebecca O., McLean, Scott D., Bi, Weimin, Bacino, Carlos A., Lalani, Seema R., Scott, Daryl A., Eng, Christine M., Yang, Yaping, Schaaf, Christian P., Walkiewicz, Magdalena A.
Publicado no Am J Hum Genet (2016)

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

Por 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.
Publicado no Genet Med (2016)

Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features

Por Santiago-Sim, Teresa, Burrage, Lindsay C., Ebstein, Frédéric, Tokita, Mari J., Miller, Marcus, Bi, Weimin, Braxton, Alicia A., Rosenfeld, Jill A., Shahrour, Maher, Lehmann, Andrea, Cogné, Benjamin, Küry, Sébastien, Besnard, Thomas, Isidor, Bertrand, Bézieau, Stéphane, Hazart, Isabelle, Nagakura, Honey, Immken, LaDonna L., Littlejohn, Rebecca O., Roeder, Elizabeth, Kara, Bulent, Hardies, Katia, Weckhuysen, Sarah, May, Patrick, Lemke, Johannes R., Elpeleg, Orly, Abu-Libdeh, Bassam, James, Kiely N., Silhavy, Jennifer L., Issa, Mahmoud Y., Zaki, Maha S., Gleeson, Joseph G., Seavitt, John R., Dickinson, Mary E., Ljungberg, M. Cecilia, Wells, Sara, Johnson, Sara J., Teboul, Lydia, Eng, Christine M., Yang, Yaping, Kloetzel, Peter-Michael, Heaney, Jason D., Walkiewicz, Magdalena A.
Publicado no Am J Hum Genet (2017)