Intracerebral hemorrhage in a neonate with an intragenic COL4A2 duplication

Authors: Koene, Saskia, Peeters‐Scholte, Cacha M. P. C. D., Knijnenburg, Jeroen, Vries, Linda S., Scheltema, Phebe N. Adama, Meuwissen, Marije E., Steggerda, Sylke J., Santen, Gijs W. E.

Source: American journal of medical genetics.Part A. 185(2):571-574

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100187345613.0x000001&indx=1&recIds=ETOCvdc_100187345613.0x000001

PUM1 haploinsufficiency is associated with syndromic neurodevelopmental delay and epilepsy

Authors: Voet, Julie, Ceulemans, Berten, Kooy, Frank, Meuwissen, Marije E. C.

Source: American journal of medical genetics.Part A. 182(3):591-594

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100102869233.0x000001&indx=1&recIds=ETOCvdc_100102869233.0x000001

Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP

Authors: Bakshi, Madhura, Wilson, Meredith, Berman, Yemina, Dickson, Rebecca, Fransen, Erik, Helsmoortel, Céline, Van den Ende, Jenneke, Van der Aa, Nathalie, van de Wijdeven, Marina J., Rosenblum, Jessica, Monteiro, Fabíola, Kok, Fernando, Quercia, Nada, Bowdin, Sarah, Dyment, David, Chitayat, David, Alkhunaizi, Ebba, Boonen, Susanne E., Keren, Boris, Jacquette, Aurelia, Faivre, Laurence, Bezieau, Stephane, Isidor, Bertrand, Rieß, Angelika, Moog, Ute, Lynch, Sally Ann, McVeigh, Terri, Elpeleg, Orly, Smeland, Marie Falkenberg, Fannemel, Madeleine, van Haeringen, Arie, Maas, Saskia M., Veenstra-Knol, H.E., Schouten, Meyke, Willemsen, Marjolein H., Marcelis, Carlo L., Ockeloen, Charlotte, van der Burgt, Ineke, Feenstra, Ilse, van der Smagt, Jasper, Jezela-Stanek, Aleksandra, Krajewska-Walasek, Malgorzata, González-Lamuño, Domingo, Anderlid, Britt-Marie, Malmgren, Helena, Nordenskjöld, Magnus, Clement, Emma, Hurst, Jane, Metcalfe, Kay, Mansour, Sahar, Lachlan, Katherine, Clayton-Smith, Jill, Hendon, Laura G., Abdulrahman, Omar A., Morrow, Eric, McMillan, Clare, Gerdts, Jennifer, Peeden, Joseph, Schrier Vergano, Samantha A., Valentino, Caitlin, Chung, Wendy K., Ozmore, Jillian R., Bedrosian-Sermone, Sandra, Dennis, Anna, Treat, Kayla, Hughes, Susan Starling, Safina, Nicole, Le Pichon, Jean-Baptiste, McGuire, Marianne, Infante, Elena, Madan-Khetarpal, Suneeta, Desai, Sonal, Benke, Paul, Krokosky, Alyson, Cristian, Ingrid, Baker, Laura, Gripp, Karen, Stessman, Holly A., Eichenberger, Jacob, Jayakar, Parul, Pizzino, Amy, Manning, Melanie Ann, Slattery, Leah, Van Dijck, Anke, Vulto-van Silfhout, Anneke T., Cappuyns, Elisa, van der Werf, Ilse M., Mancini, Grazia M., Tzschach, Andreas, Bernier, Raphael, Gozes, Illana, Eichler, Evan E., Romano, Corrado, Lindstrand, Anna, Nordgren, Ann, Kvarnung, Malin, Kleefstra, Tjitske, de Vries, Bert B.A., Küry, Sébastien, Rosenfeld, Jill A., Meuwissen, Marije E., Vandeweyer, Geert, Kooy, R. Frank

Source: In Biological Psychiatry 15 February 2019 85(4):287-297

Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP

Authors: Van Dijck, Anke, Vulto-van Silfhout, Anneke T., Cappuyns, Elisa, van der Werf, Ilse M., Mancini, Grazia M., Tzschach, Andreas, Bernier, Raphael, Gozes, Illana, Eichler, Evan E., Romano, Corrado, Lindstrand, Anna, Nordgren, Ann, Kvarnung, Malin, Kleefstra, Tjitske, de Vries, Bert B.A., Küry, Sébastien, Rosenfeld, Jill A., Meuwissen, Marije E., Vandeweyer, Geert, Kooy, R. Frank

Source: Biological psychiatry. 85(4):287-297

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100097537197.0x000001&indx=1&recIds=ETOCvdc_100097537197.0x000001

Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome

Authors: Meuwissen, Marije E. C., Schot, Rachel, Buta, Sofija, Oudesluijs, Grétel, Tinschert, Sigrid, Speer, Scott D., Li, Zhi, van Unen, Leontine, Heijsman, Daphne, Goldmann, Tobias

Source: Journal of experimental medicine. 213(7):1163-1174

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN606996687&indx=1&recIds=ETOCRN606996687

Burden re-analysis of neurodevelopmental disorder cohorts for prioritization of candidate genes

Authors: Smal, Noor, Majdoub, Fatma, Janssens, Katrien, Reyniers, Edwin, Meuwissen, Marije E. C., Ceulemans, Berten, Northrup, Hope, Hill, Jeremy B., Liu, Lingying, Errichiello, Edoardo, Gana, Simone, Strong, Alanna, Rohena, Luis, Franciskovich, Rachel, Murali, Chaya N., Huybrechs, An, Sulem, Telma, Fridriksdottir, Run, Sulem, Patrick, Stefansson, Kari, Bai, Yan, Rosenfeld, Jill A., Lalani, Seema R., Streff, Haley, Kooy, R. Frank, Weckhuysen, Sarah

Source: European Journal of Human Genetics: EJHG; 20240101, Issue: Preprints p1-9, 9p

Loss of USP18 in microglia induces white matter pathology

Authors: Schwabenland, Marius, Mossad, Omar, Peres, Adam G., Kessler, Franziska, Maron, Feres Jose Mocayar, Harsan, Laura-Adela, Bienert, Thomas, von Elverfeldt, Dominik, Knobeloch, Klaus-Peter, Staszewski, Ori, Heppner, Frank L., Meuwissen, Marije E. C., Mancini, Grazia M. S., Prinz, Marco, Blank, Thomas

Source: Acta neuropathologica communications. 7(1)

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100130969153.0x000001&indx=1&recIds=ETOCvdc_100130969153.0x000001

This result is not displayed to guests.
Login for full access.

This result is not displayed to guests.
Login for full access.

De novo variants in FBXO11cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms

Authors: Jansen, Sandra, van der Werf, Ilse M., Innes, A. Micheil, Afenjar, Alexandra, Agrawal, Pankaj B., Anderson, Ilse J., Atwal, Paldeep S., van Binsbergen, Ellen, van den Boogaard, Marie-José, Castiglia, Lucia, Coban-Akdemir, Zeynep H., van Dijck, Anke, Doummar, Diane, van Eerde, Albertien M., van Essen, Anthonie J., van Gassen, Koen L., Guillen Sacoto, Maria J., van Haelst, Mieke M., Iossifov, Ivan, Jackson, Jessica L., Judd, Elizabeth, Kaiwar, Charu, Keren, Boris, Klee, Eric W., Klein Wassink-Ruiter, Jolien S., Meuwissen, Marije E., Monaghan, Kristin G., de Munnik, Sonja A., Nava, Caroline, Ockeloen, Charlotte W., Pettinato, Rosa, Racher, Hilary, Rinne, Tuula, Romano, Corrado, Sanders, Victoria R., Schnur, Rhonda E., Smeets, Eric J., Stegmann, Alexander P. A., Stray-Pedersen, Asbjørg, Sweetser, David A., Terhal, Paulien A., Tveten, Kristian, VanNoy, Grace E., de Vries, Petra F., Waxler, Jessica L., Willing, Marcia, Pfundt, Rolph, Veltman, Joris A., Kooy, R. Frank, Vissers, Lisenka E. L. M., de Vries, Bert B. A.

Source: European Journal of Human Genetics: EJHG; May 2019, Vol. 27 Issue: 5 p738-746, 9p

This result is not displayed to guests.
Login for full access.

This result is not displayed to guests.
Login for full access.

This result is not displayed to guests.
Login for full access.

This result is not displayed to guests.
Login for full access.

This result is not displayed to guests.
Login for full access.