MED12-Related (Neuro)Developmental Disorders: A Question of Causality

von van de Plassche, Stijn R., de Brouwer, Arjan P. M.
Veröffentlicht in Genes (Basel) (2021)

UBE2A, Which Encodes a Ubiquitin-Conjugating Enzyme, Is Mutated in a Novel X-Linked Mental Retardation Syndrome

von Nascimento, Rafaella M. P., Otto, Paulo A., de Brouwer, Arjan P. M., Vianna-Morgante, Angela M.
Veröffentlicht 2006

Hearing loss and PRPS1 mutations: Wide spectrum of phenotypes and potential therapy

von Liu, Xue Zhong, Xie, Dinghua, Yuan, Hui Jun, de Brouwer, Arjan P. M., Christodoulou, John, Yan, Denise
Veröffentlicht in Int J Audiol (2012)

PRPS1 Mutations: Four Distinct Syndromes and Potential Treatment

von de Brouwer, Arjan P.M., van Bokhoven, Hans, Nabuurs, Sander B., Arts, Willem Frans, Christodoulou, John, Duley, John
Veröffentlicht 2010

A de novo variant in the X‐linked gene CNKSR2 is associated with seizures and mild intellectual disability in a female patient

von Polla, Daniel L., Saunders, Harriet R., de Vries, Bert B. A., van Bokhoven, Hans, de Brouwer, Arjan P. M.
Veröffentlicht in Mol Genet Genomic Med (2019)

SUCLA2 Deficiency: A Deafness-Dystonia Syndrome with Distinctive Metabolic Findings (Report of a New Patient and Review of the Literature)

von Maas, Roeltje R., Marina, Adela Della, de Brouwer, Arjan P. M., Wevers, Ron A., Rodenburg, Richard J, Wortmann, Saskia B.
Veröffentlicht in JIMD Rep (2015)

A Novel TECTA Mutation in a Dutch DFNA8/12 Family Confirms Genotype–Phenotype Correlation

von Plantinga, Rutger F., de Brouwer, Arjan P.M., Huygen, Patrick L.M., Kunst, Henricus P.M., Kremer, Hannie, Cremers, Cor W.R.J.
Veröffentlicht 2006

Confirming TDP2 mutation in spinocerebellar ataxia autosomal recessive 23 (SCAR23)

von Zagnoli-Vieira, Guido, Bruni, Francesco, Thompson, Kyle, He, Langping, Walker, Sarah, de Brouwer, Arjan P.M., Taylor, Robert, Niyazov, Dmitriy, Caldecott, Keith W.
Veröffentlicht in Neurol Genet (2018)

Usher syndrome and Nebulin‐associated myopathy in a single patient due to variants in MYO7A and NEB

von Maia, Nuno, Soares, Ana Rita, Fortuna, Ana Maria, Marques, Isabel, Gonçalves, Ana, Santos, Rosário, Melo Pires, Manuel, de Brouwer, Arjan P. M., Jorge, Paula
Veröffentlicht in Clin Case Rep (2020)

Two Novel Pathogenic MID1 Variants and Genotype-Phenotype Correlation Reanalysis in X-Linked Opitz G/BBB Syndrome

von Maia, Nuno, Nabais Sá, Maria J., Tkachenko, Nataliya, Soares, Gabriela, Marques, Isabel, Rodrigues, Bárbara, Fortuna, Ana M., Santos, Rosário, de Brouwer, Arjan P.M., Jorge, Paula
Veröffentlicht in Mol Syndromol (2017)

A New Chromosome X Exon-Specific Microarray Platform for Screening of Patients with X-Linked Disorders

von Bashiardes, Stavros, Kousoulidou, Ludmila, van Bokhoven, Hans, Ropers, Hans-Hilger, Chelly, Jamel, Moraine, Claude, de Brouwer, Arjan P.M., Van Esch, Hilde, Froyen, Guy, Patsalis, Philippos C.
Veröffentlicht 2009

De Novo variants in EEF2 cause a neurodevelopmental disorder with benign external hydrocephalus

von Nabais Sá, Maria J, Olson, Alexandra N, Yoon, Grace, Nimmo, Graeme A M, Gomez, Christopher M, Willemsen, Michèl A, Millan, Francisca, Schneider, Alexandra, Pfundt, Rolph, de Brouwer, Arjan P M, Dinman, Jonathan D, de Vries, Bert B A
Veröffentlicht in Hum Mol Genet (2020)

A compound heterozygous mutation in DPAGT1 results in a congenital disorder of glycosylation with a relatively mild phenotype

von Iqbal, Zafar, Shahzad, Mohsin, Vissers, Lisenka E L M, van Scherpenzeel, Monique, Gilissen, Christian, Razzaq, Attia, Zahoor, Muhammad Yasir, Khan, Shaheen N, Kleefstra, Tjitske, Veltman, Joris A, de Brouwer, Arjan P M, Lefeber, Dirk J, van Bokhoven, Hans, Riazuddin, Sheikh
Veröffentlicht 2013

Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth

von Van Maldergem, Lionel, Hou, Qingming, Kalscheuer, Vera M., Rio, Marlène, Doco-Fenzy, Martine, Medeira, Ana, de Brouwer, Arjan P.M., Cabrol, Christelle, Haas, Stefan A., Cacciagli, Pierre, Moutton, Sébastien, Landais, Emilie, Motte, Jacques, Colleaux, Laurence, Bonnet, Céline, Villard, Laurent, Dupont, Juliette, Man, Heng-Ye
Veröffentlicht 2013

Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population

von Polla, Daniel L., Rahikkala, Elisa, Bode, Michaela K., Määttä, Tuomo, Varilo, Teppo, Loman, Thyrza, Philips, Anju K., Kurki, Mitja, Palotie, Aarno, Körkkö, Jarmo, Vieira, Päivi, Avela, Kristiina, Jacquemin, Valérie, Pirson, Isabelle, Abramowicz, Marc, de Brouwer, Arjan P. M., Kuismin, Outi, van Bokhoven, Hans, Järvelä, Irma
Veröffentlicht in Eur J Hum Genet (2019)

Correction: Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population

von Polla, Daniel L., Rahikkala, Elisa, Bode, Michaela K., Määttä, Tuomo, Varilo, Teppo, Loman, Thyrza, Philips, Anju K., Kurki, Mitja, Palotie, Aarno, Körkkö, Jarmo, Vieira, Päivi, Avela, Kristiina, Jacquemin, Valérie, Pirson, Isabelle, Abramowicz, Marc, de Brouwer, Arjan P. M., Kuismin, Outi, van Bokhoven, Hans, Järvelä, Irma
Veröffentlicht in Eur J Hum Genet (2019)

Homozygosity mapping in outbred families with mental retardation

von Schuurs-Hoeijmakers, Janneke H M, Hehir-Kwa, Jayne Y, Pfundt, Rolph, van Bon, Bregje W M, de Leeuw, Nicole, Kleefstra, Tjitske, Willemsen, Michèl A, van Kessel, Ad Geurts, Brunner, Han G, Veltman, Joris A, van Bokhoven, Hans, de Brouwer, Arjan P M, de Vries, Bert B A
Veröffentlicht 2011

Recurrent De Novo Mutations in PACS1 Cause Defective Cranial-Neural-Crest Migration and Define a Recognizable Intellectual-Disability Syndrome

von 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.
Veröffentlicht 2012

OFD1 Is Mutated in X-Linked Joubert Syndrome and Interacts with LCA5-Encoded Lebercilin

von 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.
Veröffentlicht 2009

Arts Syndrome Is Caused by Loss-of-Function Mutations in PRPS1

von 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 
Veröffentlicht 2007