Intellectual disability genomics: current state, pitfalls and future challenges
Maia, Nuno, Nabais Sá, Maria João, Melo-Pires, Manuel, de Brouwer, Arjan P M, Jorge, Paula
Published in BMC genomics (20.12.2021)
Published in BMC genomics (20.12.2021)
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Mutations in the Small GTPase Gene RAB39B Are Responsible for X-linked Mental Retardation Associated with Autism, Epilepsy, and Macrocephaly
Giannandrea, Maila, Bianchi, Veronica, Mignogna, Maria Lidia, Sirri, Alessandra, Carrabino, Salvatore, D'Elia, Errico, Vecellio, Matteo, Russo, Silvia, Cogliati, Francesca, Larizza, Lidia, Ropers, Hans-Hilger, Tzschach, Andreas, Kalscheuer, Vera, Oehl-Jaschkowitz, Barbara, Skinner, Cindy, Schwartz, Charles E., Gecz, Jozef, Van Esch, Hilde, Raynaud, Martine, Chelly, Jamel, de Brouwer, Arjan P.M., Toniolo, Daniela, D'Adamo, Patrizia
Published in American journal of human genetics (12.02.2010)
Published in American journal of human genetics (12.02.2010)
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Can the Synergic Contribution of Multigenic Variants Explain the Clinical and Cellular Phenotypes of a Neurodevelopmental Disorder?
Maia, Nuno, Nabais Sá, Maria João, Oliveira, Cláudia, Santos, Flávia, Soares, Célia Azevedo, Prior, Catarina, Tkachenko, Nataliya, Santos, Rosário, de Brouwer, Arjan P M, Jacome, Ariana, Porto, Beatriz, Jorge, Paula
Published in Genes (28.12.2021)
Published in Genes (28.12.2021)
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OFD1 Is Mutated in X-Linked Joubert Syndrome and Interacts with LCA5-Encoded Lebercilin
Coene, Karlien L.M., Roepman, Ronald, Doherty, Dan, Afroze, Bushra, Kroes, Hester Y., Letteboer, Stef J.F., Ngu, Lock H., Budny, Bartlomiej, van Wijk, Erwin, Gorden, Nicholas T., Azhimi, Malika, Thauvin-Robinet, Christel, Veltman, Joris A., Boink, Mireille, Kleefstra, Tjitske, Cremers, Frans P.M., van Bokhoven, Hans, de Brouwer, Arjan P.M.
Published in American journal of human genetics (09.10.2009)
Published in American journal of human genetics (09.10.2009)
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Recurrent De Novo Mutations in PACS1 Cause Defective Cranial-Neural-Crest Migration and Define a Recognizable Intellectual-Disability Syndrome
Schuurs-Hoeijmakers, Janneke H.M., Oh, Edwin C., Vissers, Lisenka E.L.M., Swinkels, Mariëlle E.M., Gilissen, Christian, Willemsen, Michèl A., Holvoet, Maureen, Steehouwer, Marloes, Veltman, Joris A., de Vries, Bert B.A., van Bokhoven, Hans, de Brouwer, Arjan P.M., Katsanis, Nicholas, Devriendt, Koenraad, Brunner, Han G.
Published in American journal of human genetics (07.12.2012)
Published in American journal of human genetics (07.12.2012)
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B3GALNT2 mutations associated with non-syndromic autosomal recessive intellectual disability reveal a lack of genotype-phenotype associations in the muscular dystrophy-dystroglycanopathies
Maroofian, Reza, Riemersma, Moniek, Jae, Lucas T, Zhianabed, Narges, Willemsen, Marjolein H, Wissink-Lindhout, Willemijn M, Willemsen, Michèl A, de Brouwer, Arjan P M, Mehrjardi, Mohammad Yahya Vahidi, Ashrafi, Mahmoud Reza, Kusters, Benno, Kleefstra, Tjitske, Jamshidi, Yalda, Nasseri, Mojila, Pfundt, Rolph, Brummelkamp, Thijn R, Abbaszadegan, Mohammad Reza, Lefeber, Dirk J, van Bokhoven, Hans
Published in Genome medicine (22.12.2017)
Published in Genome medicine (22.12.2017)
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Biallelic GINS2 variant p.(Arg114Leu) causes Meier-Gorlin syndrome with craniosynostosis
Nabais Sá, Maria J, Miller, Kerry A, McQuaid, Mary, Koelling, Nils, Wilkie, Andrew O M, Wurtele, Hugo, de Brouwer, Arjan P M, Oliveira, Jorge
Published in Journal of medical genetics (01.08.2022)
Published in Journal of medical genetics (01.08.2022)
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Identification and Characterization of an Inborn Error of Metabolism Caused by Dihydrofolate Reductase Deficiency
Banka, Siddharth, Blom, Henk J., Walter, John, Aziz, Majid, Urquhart, Jill, Clouthier, Christopher M., Rice, Gillian I., de Brouwer, Arjan P.M., Hilton, Emma, Vassallo, Grace, Will, Andrew, Smith, Desirée E.C., Smulders, Yvo M., Wevers, Ron A., Steinfeld, Robert, Heales, Simon, Crow, Yanick J., Pelletier, Joelle N., Jones, Simon, Newman, William G.
Published in American journal of human genetics (11.02.2011)
Published in American journal of human genetics (11.02.2011)
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Intellectual disability and bleeding diathesis due to deficient CMP--sialic acid transport
Mohamed, Miski, Ashikov, Angel, Guillard, Mailys, Robben, Joris H, Schmidt, Samuel, van den Heuvel, B, de Brouwer, Arjan P M, Gerardy-Schahn, Rita, Deen, Peter M T, Wevers, Ron A, Lefeber, Dirk J, Morava, Eva
Published in Neurology (13.08.2013)
Published in Neurology (13.08.2013)
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A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism
Morava, Eva, Wevers, Ron A., Cantagrel, Vincent, Hoefsloot, Lies H., Al-Gazali, Lihadh, Schoots, Jeroen, van Rooij, Arno, Huijben, Karin, van Ravenswaaij-Arts, Connie M. A., Jongmans, Marjolein C. J., Sykut-Cegielska, Jolanta, Hoffmann, Georg F., Bluemel, Peter, Adamowicz, Maciej, van Reeuwijk, Jeroen, Ng, Bobby G., Bergman, Jorieke E. H., van Bokhoven, Hans, Körner, Christian, Babovic-Vuksanovic, Dusica, Willemsen, Michel A., Gleeson, Joseph G., Lehle, Ludwig, de Brouwer, Arjan P. M., Lefeber, Dirk J.
Published in Brain (London, England : 1878) (01.11.2010)
Published in Brain (London, England : 1878) (01.11.2010)
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Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosis
Pol, Arjan, Renkema, G Herma, Tangerman, Albert, Winkel, Edwin G, Engelke, Udo F, de Brouwer, Arjan P M, Lloyd, Kent C, Araiza, Renee S, van den Heuvel, Lambert, Omran, Heymut, Olbrich, Heike, Oude Elberink, Marijn, Gilissen, Christian, Rodenburg, Richard J, Sass, Jörn Oliver, Schwab, K Otfried, Schäfer, Hendrik, Venselaar, Hanka, Sequeira, J Silvia, Op den Camp, Huub J M, Wevers, Ron A
Published in Nature genetics (01.01.2018)
Published in Nature genetics (01.01.2018)
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Involvement of the kinesin family members KIF4A and KIF5C in intellectual disability and synaptic function
Willemsen, Marjolein H, Ba, Wei, Wissink-Lindhout, Willemijn M, de Brouwer, Arjan P M, Haas, Stefan A, Bienek, Melanie, Hu, Hao, Vissers, Lisenka E L M, van Bokhoven, Hans, Kalscheuer, Vera, Nadif Kasri, Nael, Kleefstra, Tjitske
Published in Journal of medical genetics (01.07.2014)
Published in Journal of medical genetics (01.07.2014)
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Arts Syndrome Is Caused by Loss-of-Function Mutations in PRPS1
de Brouwer, Arjan P.M., Williams, Kelly L., Duley, John A., van Kuilenburg, André B.P., Nabuurs, Sander B., Egmont-Petersen, Michael, Lugtenberg, Dorien, Zoetekouw, Lida, Banning, Martijn J.G., Roeffen, Melissa, Hamel, Ben C.J., Weaving, Linda, Ouvrier, Robert A., Donald, Jennifer A., Wevers, Ron A., Christodoulou, John, van Bokhoven, Hans
Published in American journal of human genetics (01.09.2007)
Published in American journal of human genetics (01.09.2007)
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De novo mutations in PLXND1 and REV3L cause Möbius syndrome
Tomas-Roca, Laura, Tsaalbi-Shtylik, Anastasia, Jansen, Jacob G, Singh, Manvendra K, Epstein, Jonathan A, Altunoglu, Umut, Verzijl, Harriette, Soria, Laura, van Beusekom, Ellen, Roscioli, Tony, Iqbal, Zafar, Gilissen, Christian, Hoischen, Alexander, de Brouwer, Arjan P M, Erasmus, Corrie, Schubert, Dirk, Brunner, Han, Pérez Aytés, Antonio, Marin, Faustino, Aroca, Pilar, Kayserili, Hülya, Carta, Arturo, de Wind, Niels, Padberg, George W, van Bokhoven, Hans
Published in Nature communications (12.06.2015)
Published in Nature communications (12.06.2015)
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Homozygous and heterozygous disruptions of ANK3: at the crossroads of neurodevelopmental and psychiatric disorders
Iqbal, Zafar, Vandeweyer, Geert, van der Voet, Monique, Waryah, Ali Muhammad, Zahoor, Muhammad Yasir, Besseling, Judith A, Roca, Laura Tomas, Vulto-van Silfhout, Anneke T, Nijhof, Bonnie, Kramer, Jamie M, Van der Aa, Nathalie, Ansar, Muhammad, Peeters, Hilde, Helsmoortel, Céline, Gilissen, Christian, Vissers, Lisenka E L M, Veltman, Joris A, de Brouwer, Arjan P M, Frank Kooy, R, Riazuddin, Sheikh, Schenck, Annette, van Bokhoven, Hans, Rooms, Liesbeth
Published in Human molecular genetics (15.05.2013)
Published in Human molecular genetics (15.05.2013)
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A novel mutation in the DLG3 gene encoding the synapse-associated protein 102 (SAP102) causes non-syndromic mental retardation
Zanni, Ginevra, van Esch, Hilde, Bensalem, Anissa, Saillour, Yoann, Poirier, Karine, Castelnau, Laetitia, Ropers, Hans Hilger, de Brouwer, Arjan P. M., Laumonnier, Fréderic, Fryns, Jean-Pierre, Chelly, Jamel
Published in Neurogenetics (01.05.2010)
Published in Neurogenetics (01.05.2010)
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Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation
Lefeber, Dirk J, de Brouwer, Arjan P M, Morava, Eva, Riemersma, Moniek, Schuurs-Hoeijmakers, Janneke H M, Absmanner, Birgit, Verrijp, Kiek, van den Akker, Willem M R, Huijben, Karin, Steenbergen, Gerry, van Reeuwijk, Jeroen, Jozwiak, Adam, Zucker, Nili, Lorber, Avraham, Lammens, Martin, Knopf, Carlos, van Bokhoven, Hans, Grünewald, Stephanie, Lehle, Ludwig, Kapusta, Livia, Mandel, Hanna, Wevers, Ron A
Published in PLoS genetics (01.12.2011)
Published in PLoS genetics (01.12.2011)
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De novo CLTC variants are associated with a variable phenotype from mild to severe intellectual disability, microcephaly, hypoplasia of the corpus callosum, and epilepsy
Nabais Sá, Maria J., Venselaar, Hanka, Wiel, Laurens, Trimouille, Aurélien, Lasseaux, Eulalie, Naudion, Sophie, Lacombe, Didier, Piton, Amélie, Vincent-Delorme, Catherine, Zweier, Christiane, Reis, André, Trollmann, Regina, Ruiz, Anna, Gabau, Elisabeth, Vetro, Annalisa, Guerrini, Renzo, Bakhtiari, Somayeh, Kruer, Michael C., Amor, David J., Cooper, Monica S., Bijlsma, Emilia K., Barakat, Tahsin Stefan, van Dooren, Marieke F., van Slegtenhorst, Marjon, Pfundt, Rolph, Gilissen, Christian, Willemsen, Michèl A., de Vries, Bert B.A., de Brouwer, Arjan P.M., Koolen, David A.
Published in Genetics in medicine (01.04.2020)
Published in Genetics in medicine (01.04.2020)
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