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Arjan de Brouwer
Arjan de Brouwer
Assistant Professor Genetics, Raboudumc
Verified email at radboudumc.nl
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Year
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation
PS Tarpey, R Smith, E Pleasance, A Whibley, S Edkins, C Hardy, ...
Nature genetics 41 (5), 535-543, 2009
6812009
SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder
V Cantagrel, DJ Lefeber, BG Ng, Z Guan, JL Silhavy, SL Bielas, L Lehle, ...
Cell 142 (2), 203-217, 2010
3082010
X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes
H Hu, SA Haas, J Chelly, H Van Esch, M Raynaud, APM de Brouwer, ...
Molecular psychiatry 21 (1), 133-148, 2016
3042016
Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability
T Kleefstra, JM Kramer, K Neveling, MH Willemsen, TS Koemans, ...
The American Journal of Human Genetics 91 (1), 73-82, 2012
2812012
Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly
M Giannandrea, V Bianchi, ML Mignogna, A Sirri, S Carrabino, E d'Elia, ...
The American Journal of Human Genetics 86 (2), 185-195, 2010
2622010
Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome
DA Koolen, JM Kramer, K Neveling, WM Nillesen, HL Moore-Barton, ...
Nature genetics 44 (6), 639-641, 2012
2462012
Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness
SB Wortmann, FM Vaz, T Gardeitchik, LELM Vissers, GH Renkema, ...
Nature genetics 44 (7), 797-802, 2012
2272012
OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin
KLM Coene, R Roepman, D Doherty, B Afroze, HY Kroes, SJF Letteboer, ...
The American Journal of Human Genetics 85 (4), 465-481, 2009
2152009
Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome
T Kleefstra, M Smidt, MJG Banning, AR Oudakker, H Van Esch, ...
Journal of medical genetics 42 (4), 299-306, 2005
2112005
Chromosome 1p21. 3 microdeletions comprising DPYD and MIR137 are associated with intellectual disability
MH Willemsen, A Vallès, LAMH Kirkels, M Mastebroek, NO Loohuis, ...
Journal of medical genetics 48 (12), 810-818, 2011
1792011
Mutations in DDHD2, encoding an intracellular phospholipase A1, cause a recessive form of complex hereditary spastic paraplegia
JHM Schuurs-Hoeijmakers, MT Geraghty, EJ Kamsteeg, S Ben-Salem, ...
The American Journal of Human Genetics 91 (6), 1073-1081, 2012
1752012
Homozygous and heterozygous disruptions of ANK3: at the crossroads of neurodevelopmental and psychiatric disorders
Z Iqbal, G Vandeweyer, M van der Voet, AM Waryah, MY Zahoor, ...
Human molecular genetics 22 (10), 1960-1970, 2013
1722013
Autosomal Recessive Dilated Cardiomyopathy due to DOLK Mutations Results from Abnormal Dystroglycan O-Mannosylation
DJ Lefeber, APM de Brouwer, E Morava, M Riemersma, ...
PLoS genetics 7 (12), e1002427, 2011
1702011
Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy
D Lugtenberg, T Kleefstra, AR Oudakker, WM Nillesen, HG Yntema, ...
European Journal of Human Genetics 17 (4), 444-453, 2009
1682009
Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia
S Vermeer, A Hoischen, RPP Meijer, C Gilissen, K Neveling, N Wieskamp, ...
The American Journal of Human Genetics 87 (6), 813-819, 2010
1552010
TDP2 protects transcription from abortive topoisomerase activity and is required for normal neural function
F Gómez-Herreros, JHM Schuurs-Hoeijmakers, M McCormack, ...
Nature genetics 46 (5), 516-521, 2014
1532014
Phenotype and genotype in 101 males with X-linked creatine transporter deficiency
JM van de Kamp, OT Betsalel, S Mercimek-Mahmutoglu, L Abulhoul, ...
Journal of medical genetics 50 (7), 463-472, 2013
1502013
NANS-mediated synthesis of sialic acid is required for brain and skeletal development
CDM Van Karnebeek, L Bonafé, XY Wen, M Tarailo-Graovac, S Balzano, ...
Nature Genetics 48 (7), 777-784, 2016
1492016
Clinical significance of de novo and inherited copy‐number variation
AT Vulto‐van Silfhout, JY Hehir‐Kwa, BWM van Bon, ...
Human mutation 34 (12), 1679-1687, 2013
1402013
Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24. 3 microdeletion syndrome
MH Willemsen, BA Fernandez, CA Bacino, E Gerkes, APM de Brouwer, ...
European Journal of Human Genetics 18 (4), 429-435, 2010
1322010
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