Arjan P.M. de Brouwer

Overview

Best Publications

• A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.

  Patrick S Tarpey;Raffaella Smith;Erin Pleasance;Annabel Whibley

  678
  Citations

• SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder

  Vincent Cantagrel;Dirk J. Lefeber;Bobby G. Ng;Ziqiang Guan

  334
  Citations

• X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

  H. Hu;S. A. Haas;J. Chelly;J. Chelly;H. Van Esch

  297
  Citations

• Disruption of an EHMT1-Associated Chromatin- Modification Module Causes Intellectual Disability

  Tjitske Kleefstra;Jamie M. Kramer;Kornelia Neveling;Marjolein H. Willemsen

  279
  Citations

• Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly.

  Maila Giannandrea;Veronica Bianchi;Maria Lidia Mignogna;Alessandra Sirri

  262
  Citations

• Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness

  Saskia B Wortmann;Frédéric M Vaz;Thatjana Gardeitchik;Lisenka E L M Vissers

  244
  Citations

• Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome

  David A. Koolen;Jamie M. Kramer;Kornelia Neveling;Willy M. Nillesen

  240
  Citations

• OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin.

  Karlien L.M. Coene;Ronald Roepman;Dan Doherty;Bushra Afroze

  221
  Citations

• Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome

  T. Kleefstra;M. Smidt;M.J.G. Banning;A.R. Oudakker

  219
  Citations

• Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia.

  Janneke H.M. Schuurs-Hoeijmakers;Michael T. Geraghty;Erik-Jan Kamsteeg;Salma Ben-Salem

  192
  Citations

• Homozygous and heterozygous disruptions of ANK3: at the crossroads of neurodevelopmental and psychiatric disorders

  Zafar Iqbal;Geert Vandeweyer;Monique van der Voet;Ali Muhammad Waryah;Ali Muhammad Waryah;Ali Muhammad Waryah

  183
  Citations

• Chromosome 1p21.3 microdeletions comprising DPYD and MIR137 are associated with intellectual disability

  Marjolein H Willemsen;Astrid Vallès;Laurens A M H Kirkels;Mathilde Mastebroek

  174
  Citations

• Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy

  Dorien Lugtenberg;Tjitske Kleefstra;Astrid R. Oudakker;Willy M. Nillesen

  171
  Citations

• Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia.

  Sascha Vermeer;Alexander Hoischen;Rowdy P.P. Meijer;Christian Gilissen

  170
  Citations

• Autosomal Recessive Dilated Cardiomyopathy due to DOLK Mutations Results from Abnormal Dystroglycan O-Mannosylation

  Dirk J. Lefeber;Arjan P. M. de Brouwer;Eva Morava;Moniek Riemersma

  164
  Citations

• Phenotype and genotype in 101 males with X-linked creatine transporter deficiency

  J M van de Kamp;O T Betsalel;S Mercimek-Mahmutoglu;L Abulhoul

  154
  Citations

• TDP2 protects transcription from abortive topoisomerase activity and is required for normal neural function

  Fernando Gómez-Herreros;Janneke H M Schuurs-Hoeijmakers;Janneke H M Schuurs-Hoeijmakers;Mark McCormack;Marie T Greally

  152
  Citations

• Intragenic deletion in DYRK1A leads to mental retardation and primary microcephaly

  B W M van Bon;A Hoischen;J Hehir-Kwa;A P M de Brouwer

  146
  Citations

• Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome

  Marjolein H. Willemsen;Bridget A. Fernandez;Carlos A. Bacino;Erica Gerkes

  145
  Citations

• Regulation of MYCN expression in human neuroblastoma cells

  Joannes F M Jacobs;Hans van Bokhoven;Frank N van Leeuwen;Christina A Hulsbergen-van de Kaa

  30
  Citations