TRIO loss of function is associated with mild intellectual disability and affects dendritic branching and synapse function

Por Ba, Wei, Yan, Yan, Reijnders, Margot R.F., Schuurs-Hoeijmakers, Janneke H.M., Feenstra, Ilse, Bongers, Ernie M.H.F., Bosch, Daniëlle G.M., De Leeuw, Nicole, Pfundt, Rolph, Gilissen, Christian, De Vries, Petra F., Veltman, Joris A., Hoischen, Alexander, Mefford, Heather C., Eichler, Evan E., Vissers, Lisenka E.L.M., Nadif Kasri, Nael, De Vries, Bert B.A.
Publicado no Hum Mol Genet (2016)

B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability

Por Houge, Gunnar, Haesen, Dorien, Vissers, Lisenka E.L.M., Mehta, Sarju, Parker, Michael J., Wright, Michael, Vogt, Julie, McKee, Shane, Tolmie, John L., Cordeiro, Nuno, Kleefstra, Tjitske, Willemsen, Marjolein H., Reijnders, Margot R.F., Berland, Siren, Hayman, Eli, Lahat, Eli, Brilstra, Eva H., van Gassen, Koen L.I., Zonneveld-Huijssoon, Evelien, de Bie, Charlotte I., Hoischen, Alexander, Eichler, Evan E., Holdhus, Rita, Steen, Vidar M., Døskeland, Stein Ove, Hurles, Matthew E., FitzPatrick, David R., Janssens, Veerle
Publicado no J Clin Invest (2015)

De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations

Por Reijnders, Margot R.F., Zachariadis, Vasilios, Latour, Brooke, Jolly, Lachlan, Mancini, Grazia M., Pfundt, Rolph, Wu, Ka Man, van Ravenswaaij-Arts, Conny M.A., Veenstra-Knol, Hermine E., Anderlid, Britt-Marie M., Wood, Stephen A., Cheung, Sau Wai, Barnicoat, Angela, Probst, Frank, Magoulas, Pilar, Brooks, Alice S., Malmgren, Helena, Harila-Saari, Arja, Marcelis, Carlo M., Vreeburg, Maaike, Hobson, Emma, Sutton, V. Reid, Stark, Zornitza, Vogt, Julie, Cooper, Nicola, Lim, Jiin Ying, Price, Sue, Lai, Angeline Hwei Meeng, Domingo, Deepti, Reversade, Bruno, Gecz, Jozef, Gilissen, Christian, Brunner, Han G., Kini, Usha, Roepman, Ronald, Nordgren, Ann, Kleefstra, Tjitske
Publicado no Am J Hum Genet (2016)

De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila

Por Lugtenberg, Dorien, Reijnders, Margot R F, Fenckova, Michaela, Bijlsma, Emilia K, Bernier, Raphael, van Bon, Bregje W M, Smeets, Eric, Vulto-van Silfhout, Anneke T, Bosch, Danielle, Eichler, Evan E, Mefford, Heather C, Carvill, Gemma L, Bongers, Ernie M H F, Schuurs-Hoeijmakers, Janneke HM, Ruivenkamp, Claudia A, Santen, Gijs W E, van den Maagdenberg, Arn M J M, Peeters-Scholte, Cacha M P C D, Kuenen, Sabine, Verstreken, Patrik, Pfundt, Rolph, Yntema, Helger G, de Vries, Petra F, Veltman, Joris A, Hoischen, Alexander, Gilissen, Christian, de Vries, Bert B A, Schenck, Annette, Kleefstra, Tjitske, Vissers, Lisenka E L M
Publicado no Eur J Hum Genet (2016)

Refining analyses of copy number variation identifies specific genes associated with developmental delay

Por Coe, Bradley P., Witherspoon, Kali, Rosenfeld, Jill A., van Bon, Bregje W.M., Vulto-van Silfhout, Anneke T., Bosco, Paolo, Friend, Kathryn L., Baker, Carl, Buono, Serafino, Vissers, Lisenka E.L.M., Schuurs-Hoeijmakers, Janneke H., Hoischen, Alex, Pfundt, Rolph, Krumm, Nik, Carvill, Gemma L., Li, Deana, Amaral, David, Brown, Natasha, Lockhart, Paul J., Scheffer, Ingrid E, Alberti, Antonino, Shaw, Marie, Pettinato, Rosa, Tervo, Raymond, de Leeuw, Nicole, Reijnders, Margot R.F., Torchia, Beth S., Peeters, Hilde, O'Roak, Brian J., Fichera, Marco, Hehir-Kwa, Jayne Y., Shendure, Jay, Mefford, Heather C., Haan, Eric, Gécz, Jozef, de Vries, Bert B.A., Romano, Corrado, Eichler, Evan E.
Publicado em 2014

De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome

Por Kim, Jung-Hyun, Shinde, Deepali N., Reijnders, Margot R.F., Hauser, Natalie S., Belmonte, Rebecca L., Wilson, Gregory R., Bosch, Daniëlle G.M., Bubulya, Paula A., Shashi, Vandana, Petrovski, Slavé, Stone, Joshua K., Park, Eun Young, Veltman, Joris A., Sinnema, Margje, Stumpel, Connie T.R.M., Draaisma, Jos M., Nicolai, Joost, Yntema, Helger G., Lindstrom, Kristin, de Vries, Bert B.A., Jewett, Tamison, Santoro, Stephanie L., Vogt, Julie, Bachman, Kristine K., Seeley, Andrea H., Krokosky, Alyson, Turner, Clesson, Rohena, Luis, Hempel, Maja, Kortüm, Fanny, Lessel, Davor, Neu, Axel, Strom, Tim M., Wieczorek, Dagmar, Bramswig, Nuria, Laccone, Franco A., Behunova, Jana, Rehder, Helga, Gordon, Christopher T., Rio, Marlène, Romana, Serge, Tang, Sha, El-Khechen, Dima, Cho, Megan T., McWalter, Kirsty, Douglas, Ganka, Baskin, Berivan, Begtrup, Amber, Funari, Tara, Schoch, Kelly, Stegmann, Alexander P.A., Stevens, Servi J.C., Zhang, Dong-Er, Traver, David, Yao, Xu, MacArthur, Daniel G., Brunner, Han G., Mancini, Grazia M., Myers, Richard M., Owen, Laurie B., Lim, Ssang-Taek, Stachura, David L., Vissers, Lisenka E.L.M., Ahn, Eun-Young Erin
Publicado no Am J Hum Genet (2016)

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)