Arjan P.M. de Brouwer

Arjan P.M. de Brouwer publication distribution in Genetics in 2026

The chart shows the distribution of publications by all Research.com ranked scientists in the field of Genetics in 2026. The highlighted bar marks where Arjan P.M. de Brouwer sits on this spectrum.

Arjan P.M. de Brouwer D-index placement in Genetics in 2026

The chart shows the D-index (discipline H-index) distribution of Genetics scientists ranked by Research.com in 2026. The highlighted bar marks where Arjan P.M. de Brouwer sits on this spectrum.

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