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The Genetics of Intellectual Disability
Jansen, Sandra, Vissers, Lisenka E. L. M., de Vries, Bert B. A.
Published in Brain sciences (30.01.2023)
Published in Brain sciences (30.01.2023)
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SOD1 is a synthetic-lethal target in PPM1D-mutant leukemia cells
Zhang, Linda, Hsu, Joanne I, Braekeleer, Etienne D, Chen, Chun-Wei, Patel, Tajhal D, Martell, Alejandra G, Guzman, Anna G, Wohlan, Katharina, Waldvogel, Sarah M, Uryu, Hidetaka, Tovy, Ayala, Callen, Elsa, Murdaugh, Rebecca L, Richard, Rosemary, Jansen, Sandra, Vissers, Lisenka, de Vries, Bert BA, Nussenzweig, Andre, Huang, Shixia, Coarfa, Cristian, Anastas, Jamie, Takahashi, Koichi, Vassiliou, George, Goodell, Margaret A
Published in eLife (18.06.2024)
Published in eLife (18.06.2024)
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Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability
de Ligt, Joep, Willemsen, Marjolein H, van Bon, Bregje W.M, Kleefstra, Tjitske, Yntema, Helger G, Kroes, Thessa, Vulto-van Silfhout, Anneke T, Koolen, David A, de Vries, Petra, Gilissen, Christian, del Rosario, Marisol, Hoischen, Alexander, Scheffer, Hans, de Vries, Bert B.A, Brunner, Han G, Veltman, Joris A, Vissers, Lisenka E.L.M
Published in The New England journal of medicine (15.11.2012)
Published in The New England journal of medicine (15.11.2012)
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De novo mutations of SETBP1 cause Schinzel-Giedion syndrome
Hoischen, Alexander, van Bon, Bregje W M, Gilissen, Christian, Arts, Peer, van Lier, Bart, Steehouwer, Marloes, de Vries, Petra, de Reuver, Rick, Wieskamp, Nienke, Mortier, Geert, Devriendt, Koen, Amorim, Marta Z, Revencu, Nicole, Kidd, Alexa, Barbosa, Mafalda, Turner, Anne, Smith, Janine, Oley, Christina, Henderson, Alex, Hayes, Ian M, Thompson, Elizabeth M, Brunner, Han G, de Vries, Bert B A, Veltman, Joris A
Published in Nature genetics (01.06.2010)
Published in Nature genetics (01.06.2010)
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Cantú Syndrome Is Caused by Mutations in ABCC9
van Bon, Bregje W.M., Gilissen, Christian, Grange, Dorothy K., Hennekam, Raoul C.M., Kayserili, Hülya, Engels, Hartmut, Reutter, Heiko, Ostergaard, John R., Morava, Eva, Tsiakas, Konstantinos, Isidor, Bertrand, Le Merrer, Martine, Eser, Metin, Wieskamp, Nienke, de Vries, Petra, Steehouwer, Marloes, Veltman, Joris A., Robertson, Stephen P., Brunner, Han G., de Vries, Bert B.A., Hoischen, Alexander
Published in American journal of human genetics (08.06.2012)
Published in American journal of human genetics (08.06.2012)
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Loss-of-Function Mutations in Euchromatin Histone Methyl Transferase 1 ( EHMT1) Cause the 9q34 Subtelomeric Deletion Syndrome
Kleefstra, Tjitske, Brunner, Han G., Amiel, Jeanne, Oudakker, Astrid R., Nillesen, Willy M., Magee, Alex, Geneviève, David, Cormier-Daire, Valérie, van Esch, Hilde, Fryns, Jean-Pierre, Hamel, Ben C.J., Sistermans, Erik A., de Vries, Bert B.A., van Bokhoven, Hans
Published in American journal of human genetics (01.08.2006)
Published in American journal of human genetics (01.08.2006)
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Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability
Lelieveld, Stefan H, Reijnders, Margot R F, Pfundt, Rolph, Yntema, Helger G, Kamsteeg, Erik-Jan, de Vries, Petra, de Vries, Bert B A, Willemsen, Marjolein H, Kleefstra, Tjitske, Löhner, Katharina, Vreeburg, Maaike, Stevens, Servi J C, van der Burgt, Ineke, Bongers, Ernie M H F, Stegmann, Alexander P A, Rump, Patrick, Rinne, Tuula, Nelen, Marcel R, Veltman, Joris A, Vissers, Lisenka E L M, Brunner, Han G, Gilissen, Christian
Published in Nature neuroscience (01.09.2016)
Published in Nature neuroscience (01.09.2016)
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Mutations in a new member of the chromodomain gene family cause CHARGE syndrome
Vissers, Lisenka E L M, van Ravenswaaij, Conny M A, Admiraal, Ronald, Hurst, Jane A, de Vries, Bert B A, Janssen, Irene M, van der Vliet, Walter A, Huys, Erik H L P G, de Jong, Pieter J, Hamel, Ben C J, Schoenmakers, Eric F P M, Brunner, Han G, Veltman, Joris A, van Kessel, Ad Geurts
Published in Nature genetics (01.09.2004)
Published in Nature genetics (01.09.2004)
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The performance of genome sequencing as a first-tier test for neurodevelopmental disorders
van der Sanden, Bart P. G. H., Schobers, Gaby, Corominas Galbany, Jordi, Koolen, David A., Sinnema, Margje, van Reeuwijk, Jeroen, Stumpel, Connie T. R. M., Kleefstra, Tjitske, de Vries, Bert B. A., Ruiterkamp-Versteeg, Martina, Leijsten, Nico, Kwint, Michael, Derks, Ronny, Swinkels, Hilde, den Ouden, Amber, Pfundt, Rolph, Rinne, Tuula, de Leeuw, Nicole, Stegmann, Alexander P., Stevens, Servi J., van den Wijngaard, Arthur, Brunner, Han G., Yntema, Helger G., Gilissen, Christian, Nelen, Marcel R., Vissers, Lisenka E. L. M.
Published in European journal of human genetics : EJHG (01.01.2023)
Published in European journal of human genetics : EJHG (01.01.2023)
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Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture
Vissers, Lisenka E.L.M., Bhatt, Samarth S., Janssen, Irene M., Xia, Zhilian, Lalani, Seema R., Pfundt, Rolph, Derwinska, Katarzyna, de Vries, Bert B.A., Gilissen, Christian, Hoischen, Alexander, Nesteruk, Monika, Wisniowiecka-Kowalnik, Barbara, Smyk, Marta, Brunner, Han G., Cheung, Sau Wai, van Kessel, Ad Geurts, Veltman, Joris A., Stankiewicz, Pawel
Published in Human molecular genetics (01.10.2009)
Published in Human molecular genetics (01.10.2009)
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YY1 mutations disrupt corticogenesis through a cell type specific rewiring of cell-autonomous and non-cell-autonomous transcriptional programs
Pereira, Marlene F., Finazzi, Veronica, Rizzuti, Ludovico, Aprile, Davide, Aiello, Vittorio, Mollica, Luca, Riva, Matteo, Soriani, Chiara, Dossena, Francesco, Shyti, Reinald, Castaldi, Davide, Tenderini, Erika, Carminho-Rodrigues, Maria Teresa, Bally, Julien F., de Vries, Bert B. A., Gabriele, Michele, Vitriolo, Alessandro, Testa, Giuseppe
Published in Molecular psychiatry (01.08.2025)
Published in Molecular psychiatry (01.08.2025)
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Expanding the speech and language phenotype in Koolen-de Vries syndrome: late onset and periodic stuttering a novel feature
St John, Miya, van Reyk, Olivia, Koolen, David A., de Vries, Bert B. A., Amor, David J., Morgan, Angela T.
Published in European journal of human genetics : EJHG (01.05.2023)
Published in European journal of human genetics : EJHG (01.05.2023)
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Characterization of a recurrent 15q24 microdeletion syndrome
Sharp, Andrew J., Selzer, Rebecca R., Veltman, Joris A., Gimelli, Stefania, Gimelli, Giorgio, Striano, Pasquale, Coppola, Antonietta, Regan, Regina, Price, Sue M., Knoers, Nine V., Eis, Peggy S., Brunner, Han G., Hennekam, Raoul C., Knight, Samantha J.L., de Vries, Bert B.A., Zuffardi, Orsetta, Eichler, Evan E.
Published in Human molecular genetics (01.03.2007)
Published in Human molecular genetics (01.03.2007)
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Loss-of-function of activity-dependent neuroprotective protein (ADNP) by a splice-acceptor site mutation causes Helsmoortel–Van der Aa syndrome
D’Incal, Claudio Peter, Annear, Dale John, Elinck, Ellen, van der Smagt, Jasper J., Alders, Mariëlle, Dingemans, Alexander J. M., Mateiu, Ligia, de Vries, Bert B. A., Vanden Berghe, Wim, Kooy, R. Frank
Published in European journal of human genetics : EJHG (01.06.2024)
Published in European journal of human genetics : EJHG (01.06.2024)
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Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype
Zanoni, Paolo, Steindl, Katharina, Sengupta, Deepanwita, Joset, Pascal, Bahr, Angela, Sticht, Heinrich, Lang-Muritano, Mariarosaria, van Ravenswaaij-Arts, Conny M.A., Shinawi, Marwan, Andrews, Marisa, Attie-Bitach, Tania, Maystadt, Isabelle, Belnap, Newell, Benoit, Valerie, Delplancq, Geoffroy, de Vries, Bert B.A., Grotto, Sarah, Lacombe, Didier, Larson, Austin, Mourmans, Jeroen, Õunap, Katrin, Petrilli, Giulia, Pfundt, Rolph, Ramsey, Keri, Blok, Lot Snijders, Tsatsaris, Vassilis, Vitobello, Antonio, Faivre, Laurence, Wheeler, Patricia G., Wevers, Marijke R., Wojcik, Monica, Zweier, Markus, Gozani, Or, Rauch, Anita
Published in Genetics in medicine (01.08.2021)
Published in Genetics in medicine (01.08.2021)
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Prevalence of comorbidities in individuals with neurodevelopmental disorders from the aggregated phenomics data of 51,227 pediatric individuals
Dingemans, Alexander J. M., Jansen, Sandra, van Reeuwijk, Jeroen, de Leeuw, Nicole, Pfundt, Rolph, Schuurs-Hoeijmakers, Janneke, van Bon, Bregje W., Marcelis, Carlo, Ockeloen, Charlotte W., Willemsen, Marjolein, van der Sluijs, Pleuntje J., Santen, Gijs W. E., Kooy, R. Frank, Vulto-van Silfhout, Anneke T., Kleefstra, Tjitske, Koolen, David A., Vissers, Lisenka E. L. M., de Vries, Bert B. A.
Published in Nature medicine (01.07.2024)
Published in Nature medicine (01.07.2024)
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DDX3X-related neurodevelopmental disorder in males – presenting a new cohort of 19 males and a literature review
Kennis, Milou G. P., Rots, Dmitrijs, Bouman, Arjan, Ockeloen, Charlotte W., Boelen, Caroline, Marcelis, Carlo L. M., de Vries, Bert B. A., Elting, Mariet W., Waisfisz, Quinten, Suri, Mohnish, Font-Montgomery, Esperanza, Peck, Dawn S., Donnelly, Deirdre E., Rogers, R. Curtis, Richardson, Ruth, Caumes, Roseline, Chaumette, Boris, Louveau, Cécile, Sallevelt, Suzanne C. E. H., Maas, Saskia M., Smits, Jeroen J., van Haelst, Mieke M., Levy, Rebecca J., Stewart, Helen, Loeys, Bart L., Pfundt, Rolph, Kleefstra, Tjitske, Snijders Blok, Lot
Published in European journal of human genetics : EJHG (01.08.2025)
Published in European journal of human genetics : EJHG (01.08.2025)
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TDP2 protects transcription from abortive topoisomerase activity and is required for normal neural function
Gómez-Herreros, Fernando, Schuurs-Hoeijmakers, Janneke H M, McCormack, Mark, Greally, Marie T, Rulten, Stuart, Romero-Granados, Rocío, Counihan, Timothy J, Chaila, Elijah, Conroy, Judith, Ennis, Sean, Delanty, Norman, Cortés-Ledesma, Felipe, de Brouwer, Arjan P M, Cavalleri, Gianpiero L, El-Khamisy, Sherif F, de Vries, Bert B A, Caldecott, Keith W
Published in Nature genetics (01.05.2014)
Published in Nature genetics (01.05.2014)
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A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells
Awamleh, Zain, Choufani, Sanaa, Wu, Wendy, Rots, Dmitrijs, Dingemans, Alexander J. M., Nadif Kasri, Nael, Boronat, Susana, Ibañez-Mico, Salvador, Cuesta Herraiz, Laura, Ferrer, Irene, Martínez Carrascal, Antonio, Pérez-Jurado, Luis A., Aznar Lain, Gemma, Ortigoza-Escobar, Juan Dario, de Vries, Bert B. A., Koolen, David A., Weksberg, Rosanna
Published in European journal of human genetics : EJHG (01.03.2024)
Published in European journal of human genetics : EJHG (01.03.2024)
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Correction: A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells
Awamleh, Zain, Choufani, Sanaa, Wu, Wendy, Rots, Dmitrijs, Dingemans, Alexander J. M., Nadif Kasri, Nael, Boronat, Susana, Ibañez-Mico, Salvador, Cuesta Herraiz, Laura, Ferrer, Irene, Martínez Carrascal, Antonio, Pérez-Jurado, Luis A., Aznar Lain, Gemma, Ortigoza-Escobar, Juan Dario, de Vries, Bert B. A., Koolen, David A., Weksberg, Rosanna
Published in European journal of human genetics : EJHG (15.02.2024)
Published in European journal of human genetics : EJHG (15.02.2024)
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