STXBP1-associated neurodevelopmental disorder: a comparative study of behavioural characteristics

מאת Sinéad O’Brien, Elise Ng-Cordell, The DDD Study, Duncan E. Astle, Gaia Scerif, Kate Baker
יצא לאור 2019-08-01

Clinical and molecular consequences of disease-associated de novo mutations in SATB2

מאת Bengani, Hemant, Handley, Mark, Alvi, Mohsan, Ibitoye, Rita, Lees, Melissa, Lynch, Sally Ann, Lam, Wayne, Fannemel, Madeleine, Nordgren, Ann, Malmgren, H., Kvarnung, M., Mehta, Sarju, McKee, Shane, Whiteford, Margo, Stewart, Fiona, Connell, Fiona, Clayton-Smith, Jill, Mansour, Sahar, Mohammed, Shehla, Fryer, Alan, Morton, Jenny, Grozeva, Detelina, Asam, Tara, Moore, David, Sifrim, Alejandro, McRae, Jeremy, Hurles, Matthew E., Firth, Helen V., Raymond, F. Lucy, Kini, Usha, Nellåker, Christoffer, DDD study, FitzPatrick, David R.
הוצא לאור ב Genet Med (2017)

De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder

מאת Lessel, Davor, Schob, Claudia, Küry, Sébastien, Reijnders, Margot R.F., Harel, Tamar, Eldomery, Mohammad K., Coban-Akdemir, Zeynep, Denecke, Jonas, Edvardson, Shimon, Colin, Estelle, Stegmann, Alexander P.A., Gerkes, Erica H., Tessarech, Marine, Bonneau, Dominique, Barth, Magalie, Besnard, Thomas, Cogné, Benjamin, Revah-Politi, Anya, Strom, Tim M., Rosenfeld, Jill A., Yang, Yaping, Posey, Jennifer E., Immken, LaDonna, Oundjian, Nelly, Helbig, Katherine L., Meeks, Naomi, Zegar, Kelsey, Morton, Jenny, the DDD study, Schieving, Jolanda H., Claasen, Ana, Huentelman, Matthew, Narayanan, Vinodh, Ramsey, Keri, Brunner, Han G., Elpeleg, Orly, Mercier, Sandra, Bézieau, Stéphane, Kubisch, Christian, Kleefstra, Tjitske, Kindler, Stefan, Lupski, James R., Kreienkamp, Hans-Jürgen
הוצא לאור ב Am J Hum Genet (2018)

PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature

מאת Reijnders, Margot R F, Janowski, Robert, Alvi, Mohsan, Self, Jay E, van Essen, Ton J, Vreeburg, Maaike, Rouhl, Rob P W, Stevens, Servi J C, Stegmann, Alexander P A, Schieving, Jolanda, Pfundt, Rolph, van Dijk, Katinke, Smeets, Eric, Stumpel, Connie T R M, Bok, Levinus A, Cobben, Jan Maarten, Engelen, Marc, Mansour, Sahar, Whiteford, Margo, Chandler, Kate E, Douzgou, Sofia, Cooper, Nicola S, Tan, Ene-Choo, Foo, Roger, Lai, Angeline H M, Rankin, Julia, Green, Andrew, Lönnqvist, Tuula, Isohanni, Pirjo, Williams, Shelley, Ruhoy, Ilene, Carvalho, Karen S, Dowling, James J, Lev, Dorit L, Sterbova, Katalin, Lassuthova, Petra, Neupauerová, Jana, Waugh, Jeff L, Keros, Sotirios, Clayton-Smith, Jill, Smithson, Sarah F, Brunner, Han G, van Hoeckel, Ceciel, Anderson, Mel, Clowes, Virginia E, Siu, Victoria Mok, DDD study, The, Selber, Paulo, Leventer, Richard J, Nellaker, Christoffer, Niessing, Dierk, Hunt, David, Baralle, Diana
הוצא לאור ב J Med Genet (2018)