Tauopathy in the young autistic brain: novel biomarker and therapeutic target
Grigg, Iris, Ivashko-Pachima, Yanina, Hait, Tom Aharon, Korenková, Vlasta, Touloumi, Olga, Lagoudaki, Roza, Van Dijck, Anke, Marusic, Zlatko, Anicic, Mirna, Vukovic, Jurica, Kooy, R Frank, Grigoriadis, Nikolaos, Gozes, Illana
Published in Translational psychiatry (13.07.2020)
Published in Translational psychiatry (13.07.2020)
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Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants
Smolen, Corrine, Jensen, Matthew, Dyer, Lisa, Pizzo, Lucilla, Tyryshkina, Anastasia, Banerjee, Deepro, Rohan, Laura, Huber, Emily, El Khattabi, Laila, Prontera, Paolo, Caberg, Jean-Hubert, Van Dijck, Anke, Schwartz, Charles, Faivre, Laurence, Callier, Patrick, Mosca-Boidron, Anne-Laure, Lefebvre, Mathilde, Pope, Kate, Snell, Penny, Lockhart, Paul J., Castiglia, Lucia, Galesi, Ornella, Avola, Emanuela, Mattina, Teresa, Fichera, Marco, Luana Mandarà, Giuseppa Maria, Bruccheri, Maria Grazia, Pichon, Olivier, Le Caignec, Cedric, Stoeva, Radka, Cuinat, Silvestre, Mercier, Sandra, Bénéteau, Claire, Blesson, Sophie, Nordsletten, Ashley, Martin-Coignard, Dominique, Sistermans, Erik, Kooy, R. Frank, Amor, David J., Romano, Corrado, Isidor, Bertrand, Juusola, Jane, Girirajan, Santhosh
Published in American journal of human genetics (07.12.2023)
Published in American journal of human genetics (07.12.2023)
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Tracing the invisible mutant ADNP protein in Helsmoortel-Van der Aa syndrome patients
D’Incal, Claudio Peter, Cappuyns, Elisa, Choukri, Kaoutar, De Man, Kevin, Szrama, Kristy, Konings, Anthony, Bastini, Lina, Van Meel, Kim, Buys, Amber, Gabriele, Michele, Rizzuti, Ludovico, Vitriolo, Alessandro, Testa, Giuseppe, Mohn, Fabio, Bühler, Marc, Van der Aa, Nathalie, Van Dijck, Anke, Kooy, R. Frank, Berghe, Wim Vanden
Published in Scientific reports (26.06.2024)
Published in Scientific reports (26.06.2024)
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Chromatin remodeler Activity-Dependent Neuroprotective Protein (ADNP) contributes to syndromic autism
D'Incal, Claudio Peter, Van Rossem, Kirsten Esther, De Man, Kevin, Konings, Anthony, Van Dijck, Anke, Rizzuti, Ludovico, Vitriolo, Alessandro, Testa, Giuseppe, Gozes, Illana, Vanden Berghe, Wim, Kooy, R Frank
Published in Clinical epigenetics (21.03.2023)
Published in Clinical epigenetics (21.03.2023)
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A randomized double-blind, placebo-controlled trial of ganaxolone in children and adolescents with fragile X syndrome
Ligsay, Andrew, Van Dijck, Anke, Nguyen, Danh V, Lozano, Reymundo, Chen, Yanjun, Bickel, Erika S, Hessl, David, Schneider, Andrea, Angkustsiri, Kathleen, Tassone, Flora, Ceulemans, Berten, Kooy, R Frank, Hagerman, Randi J
Published in Journal of neurodevelopmental disorders (02.08.2017)
Published in Journal of neurodevelopmental disorders (02.08.2017)
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De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms
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
Published in European journal of human genetics : EJHG (01.05.2019)
Published in European journal of human genetics : EJHG (01.05.2019)
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Overrepresentation of genetic variation in the AnkyrinG interactome is related to a range of neurodevelopmental disorders
van der Werf, Ilse M, Jansen, Sandra, de Vries, Petra F, Gerstmans, Amber, van de Vorst, Maartje, Van Dijck, Anke, de Vries, Bert B A, Gilissen, Christian, Hoischen, Alexander, Vissers, Lisenka E L M, Kooy, R Frank, Vandeweyer, Geert
Published in European journal of human genetics : EJHG (01.12.2020)
Published in European journal of human genetics : EJHG (01.12.2020)
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Reduced serum levels of pro-inflammatory chemokines in fragile X syndrome
Van Dijck, Anke, Barbosa, Susana, Bermudez-Martin, Patricia, Khalfallah, Olfa, Gilet, Cyprien, Martinuzzi, Emanuela, Elinck, Ellen, Kooy, R Frank, Glaichenhaus, Nicolas, Davidovic, Laetitia
Published in BMC neurology (15.04.2020)
Published in BMC neurology (15.04.2020)
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ADNP dysregulates methylation and mitochondrial gene expression in the cerebellum of a Helsmoortel-Van der Aa syndrome autopsy case
D'Incal, Claudio, Van Dijck, Anke, Ibrahim, Joe, De Man, Kevin, Bastini, Lina, Konings, Anthony, Elinck, Ellen, Gozes, Lllana, Marusic, Zlatko, Anicic, Mirna, Vukovic, Jurica, Van der Aa, Nathalie, Mateiu, Ligia, Vanden Berghe, Wim, Kooy, R Frank
Published in Acta neuropathologica communications (18.04.2024)
Published in Acta neuropathologica communications (18.04.2024)
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The Eight and a Half Year Journey of Undiagnosed AD: Gene Sequencing and Funding of Advanced Genetic Testing Has Led to Hope and New Beginnings
Gozes, Illana, Patterson, Marc C, Van Dijck, Anke, Kooy, R Frank, Peeden, Joseph N, Eichenberger, Jacob A, Zawacki-Downing, Angela, Bedrosian-Sermone, Sandra
Published in Frontiers in endocrinology (Lausanne) (19.05.2017)
Published in Frontiers in endocrinology (Lausanne) (19.05.2017)
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The translational regulator FMRP controls lipid and glucose metabolism in mice and humans
Leboucher, Antoine, Pisani, Didier F., Martinez-Gili, Laura, Chilloux, Julien, Bermudez-Martin, Patricia, Van Dijck, Anke, Ganief, Tariq, Macek, Boris, Becker, Jérôme A.J., Le Merrer, Julie, Kooy, R. Frank, Amri, Ez-Zoubir, Khandjian, Edouard W., Dumas, Marc-Emmanuel, Davidovic, Laetitia
Published in Molecular metabolism (Germany) (01.03.2019)
Published in Molecular metabolism (Germany) (01.03.2019)
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Gait deviations in rare genetic syndromes: is there a common denomitator for patients with Dravet, HVDAS and TSC?
Van De Walle, Patricia, Jansen, An, Schoonjans, An-Sofie, Van Dijck, Anke, Puts, Colette, van Hal, Iris, Weren, Marijn, Esra, Kinaci, Hallemans, Ann
Published in Gait & posture (01.09.2023)
Published in Gait & posture (01.09.2023)
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Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling
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
Published in American journal of human genetics (06.08.2015)
Published in American journal of human genetics (06.08.2015)
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Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging
Flex, Elisabetta, Martinelli, Simone, Van Dijck, Anke, Ciolfi, Andrea, Cecchetti, Serena, Coluzzi, Elisa, Pannone, Luca, Andreoli, Cristina, Radio, Francesca Clementina, Pizzi, Simone, Carpentieri, Giovanna, Bruselles, Alessandro, Catanzaro, Giuseppina, Pedace, Lucia, Miele, Evelina, Carcarino, Elena, Ge, Xiaoyan, Chijiwa, Chieko, Lewis, M.E. Suzanne, Meuwissen, Marije, Kenis, Sandra, Van der Aa, Nathalie, Larson, Austin, Brown, Kathleen, Wasserstein, Melissa P., Skotko, Brian G., Begtrup, Amber, Person, Richard, Karayiorgou, Maria, Roos, J. Louw, Van Gassen, Koen L., Koopmans, Marije, Bijlsma, Emilia K., Santen, Gijs W.E., Barge-Schaapveld, Daniela Q.C.M., Ruivenkamp, Claudia A.L., Hoffer, Mariette J.V., Lalani, Seema R., Streff, Haley, Craigen, William J., Graham, Brett H., van den Elzen, Annette P.M., Kamphuis, Daan J., Õunap, Katrin, Reinson, Karit, Pajusalu, Sander, Wojcik, Monica H., Viberti, Clara, Di Gaetano, Cornelia, Bertini, Enrico, Petrucci, Simona, De Luca, Alessandro, Rota, Rossella, Ferretti, Elisabetta, Matullo, Giuseppe, Dallapiccola, Bruno, Sgura, Antonella, Walkiewicz, Magdalena, Kooy, R. Frank, Tartaglia, Marco
Published in American journal of human genetics (05.09.2019)
Published in American journal of human genetics (05.09.2019)
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Mutations in two large pedigrees highlight the role of ZNF711 in X-linked intellectual disability
van der Werf, Ilse M., Van Dijck, Anke, Reyniers, Edwin, Helsmoortel, Céline, Kumar, Ajay Anand, Kalscheuer, Vera M., de Brouwer, Arjan PM, Kleefstra, Tjitske, van Bokhoven, Hans, Mortier, Geert, Janssens, Sandra, Vandeweyer, Geert, Kooy, R. Frank
Published in Gene (20.03.2017)
Published in Gene (20.03.2017)
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F75THE TRUE CONTRIBUTION OF THE 15Q11.2 BP1-BP2 DELETION TO NEURODEVELOPMENTAL SYMPTOMS
Jønch, Aia, Douard, Elise, Moreau, Clara, Van Dijck, Anke, Kooy, Frank, Sanlaville, Damien, Brasch-Andersen, Charlotte, Lemyre, Emmanuelle, Ousager, Lilian B., Jacquemont, Sébastien
Published in European neuropsychopharmacology (2019)
Published in European neuropsychopharmacology (2019)
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A mouse model for intellectual disability caused by mutations in the X-linked 2′‑O‑methyltransferase Ftsj1 gene
Jensen, Lars R., Garrett, Lillian, Hölter, Sabine M., Rathkolb, Birgit, Rácz, Ildikó, Adler, Thure, Prehn, Cornelia, Hans, Wolfgang, Rozman, Jan, Becker, Lore, Aguilar-Pimentel, Juan Antonio, Puk, Oliver, Moreth, Kristin, Dopatka, Monika, Walther, Diego J., von Bohlen und Halbach, Viola, Rath, Matthias, Delatycki, Martin, Bert, Bettina, Fink, Heidrun, Blümlein, Katharina, Ralser, Markus, Van Dijck, Anke, Kooy, Frank, Stark, Zornitza, Müller, Sabine, Scherthan, Harry, Gecz, Jozef, Wurst, Wolfgang, Wolf, Eckhard, Zimmer, Andreas, Klingenspor, Martin, Graw, Jochen, Klopstock, Thomas, Busch, Dirk, Adamski, Jerzy, Fuchs, Helmut, Gailus-Durner, Valérie, de Angelis, Martin Hrabě, von Bohlen und Halbach, Oliver, Ropers, Hans-Hilger, Kuss, Andreas W.
Published in Biochimica et biophysica acta. Molecular basis of disease (01.09.2019)
Published in Biochimica et biophysica acta. Molecular basis of disease (01.09.2019)
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The relevance of deep genomic analyses in families with variably expressive CNVs in the era of personalized medicine
Pizzo, Lucilla, Jensen, Matthew, Tyryshkina, Anastasia, Smolen, Corrine, Taylor, Cora, Rohan, Laura, Huber, Emily, Snell, Penny, Pope, Kate, Pounraja, Vijay Kumar, Rosenfeld, Jill, McCready, Elizabeth, Zeesman, Susan, Nowaczyk, Małgorzata, Schwartz, Charles, Keren, Boris, Perrine, Charles, Prontera, Paolo, Van Dijck, Anke, Kooy, Frank, Caberg, Jean-Hubert, Voorhoeve, Els, Banka, Siddharth, Sistermans, Erik, Marle, Nathalie, Renieri, Alessandra, Martin-Coignard, Dominique, Isidor, Bertrand, Reymond, Alexandre, Mannik, Katrin, Andrieux, Joris, Amor, David, Romano, Corrado, Girirajan, Santhosh
Published in Molecular genetics and metabolism (01.04.2021)
Published in Molecular genetics and metabolism (01.04.2021)
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Journal Article
OP099 - The relevance of deep genomic analyses in families with variably expressive CNVs in the era of personalized medicine
Pizzo, Lucilla, Jensen, Matthew, Tyryshkina, Anastasia, Smolen, Corrine, Taylor, Cora, Rohan, Laura, Huber, Emily, Snell, Penny, Pope, Kate, Pounraja, Vijay Kumar, Rosenfeld, Jill, McCready, Elizabeth, Zeesman, Susan, Nowaczyk, Małgorzata, Schwartz, Charles, Keren, Boris, Perrine, Charles, Prontera, Paolo, Van Dijck, Anke, Kooy, Frank, Caberg, Jean-Hubert, Voorhoeve, Els, Banka, Siddharth, Sistermans, Erik, Marle, Nathalie, Renieri, Alessandra, Martin-Coignard, Dominique, Isidor, Bertrand, Reymond, Alexandre, Mannik, Katrin, Andrieux, Joris, Amor, David, Romano, Corrado, Girirajan, Santhosh
Published in Molecular genetics and metabolism (01.04.2021)
Published in Molecular genetics and metabolism (01.04.2021)
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Journal Article
The transcriptional regulator ADNP links the BAF (SWI/SNF) complexes with autism
Vandeweyer, Geert, Helsmoortel, Céline, Van Dijck, Anke, Vulto-van Silfhout, Anneke T., Coe, Bradley P., Bernier, Raphael, Gerdts, Jennifer, Rooms, Liesbeth, van den Ende, Jenneke, Bakshi, Madhura, Wilson, Meredith, Nordgren, Ann, Hendon, Laura G., Abdulrahman, Omar A., Romano, Corrado, de Vries, Bert B.A., Kleefstra, Tjitske, Eichler, Evan E., Van der Aa, Nathalie, Kooy, R. Frank
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.09.2014)
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.09.2014)
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